102 results on '"Xia, K."'
Search Results
2. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
- Author
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Gehin, C., Lone, M.A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A.M., Gerkes, E.H., Stegmann, A.P.A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E.R., Zamuner, S., Abriata, L.A., Kunnathully, V., Moeller, B.E., Vocat, A., Rommelaere, S., Bocquete, J.P., Ruchti, E., Limoni, G., Campenhoudt, M. Van, Bourgeat, S., Henklein, P., Gilissen, C.F., Bon, B.W.M. van, Pfundt, R.P., Willemsen, M.H., Schieving, J.H., Leonardi, E., Soli, F., Murgia, A., Guo, H, Zhang, Qiumeng, Xia, K., Fagerberg, C.R., Beier, C.P., Larsen, M.J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N.S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A.L., Tran Mau-Them, F., Maddocks, A.B., Bain, J.M., Bhat, M.A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N.L., Friez, M.J., Richardson, E.B., Gowda, V.K., Srinivasan, V.M., Gupta, Y., Lim, T.Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J.E., Jakšić, A.M., McCabe, B.D., Los Rios, P. De, Hornemann, T., D'Angelo, G., Gennarino, V.A., Gehin, C., Lone, M.A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A.M., Gerkes, E.H., Stegmann, A.P.A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E.R., Zamuner, S., Abriata, L.A., Kunnathully, V., Moeller, B.E., Vocat, A., Rommelaere, S., Bocquete, J.P., Ruchti, E., Limoni, G., Campenhoudt, M. Van, Bourgeat, S., Henklein, P., Gilissen, C.F., Bon, B.W.M. van, Pfundt, R.P., Willemsen, M.H., Schieving, J.H., Leonardi, E., Soli, F., Murgia, A., Guo, H, Zhang, Qiumeng, Xia, K., Fagerberg, C.R., Beier, C.P., Larsen, M.J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N.S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A.L., Tran Mau-Them, F., Maddocks, A.B., Bain, J.M., Bhat, M.A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N.L., Friez, M.J., Richardson, E.B., Gowda, V.K., Srinivasan, V.M., Gupta, Y., Lim, T.Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J.E., Jakšić, A.M., McCabe, B.D., Los Rios, P. De, Hornemann, T., D'Angelo, G., and Gennarino, V.A.
- Abstract
Item does not contain fulltext, Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1. Several variants fall into a previously uncharacterized dimeric helical domain that enables CERT homeostatic inactivation, without which sphingolipid production goes unchecked. The clinical severity reflects the degree to which CERT autoregulation is disrupted, and inhibiting CERT pharmacologically corrects morphological and motor abnormalities in a Drosophila model of the disease, which we call ceramide transporter (CerTra) syndrome. These findings uncover a central role for CERT autoregulation in the control of sphingolipid biosynthetic flux, provide unexpected insight into the structural organization of CERT, and suggest a possible therapeutic approach for patients with CerTra syndrome.
- Published
- 2023
3. Impact of asymptomatic COVID-19 patients in global surgical practice during the COVID-19 pandemic
- Author
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Bellato, V, Konishi, T, Pellino, G, An, Y, Piciocchi, A, Sensi, B, Siragusa, L, Khanna, K, Pirozzi, B, Franceschilli, M, Campanelli, M, Efetov, S, Sica, G, Kefleyesus, A, Hoofwijk, A, Eldaly, A, Gonzalez, A, Jawad, A, Jooma, A, Hafez, A, Rubio, A, Landaluce-Olavarria, A, Wu, A, Nagatsu, A, Inoue, A, Kanamoto, A, Ouchi, A, El-Hussuna, A, Vazquez-Melero, A, Wolthuis, A, Peral, A, Lozano, A, Efremov, A, Ryasantsev, A, Di Giorgio, A, Parente, A, Tamburrini, A, Alo, A, Forero-Torres, A, Vahrmeijer, A, Varabei, A, Hinojosa, S, Balkan, A, Frontali, A, Oleg, A, Soler-Silva, A, Makni, A, Andre, A, Cabrera, A, Fernandez, A, Minaya-Bravo, A, Rodriguez-Sanchez, A, Musina, A, Pangeni, A, Zolotko, A, Tonoyan, A, Balla, A, Belli, A, Cavallaro, A, Chierici, A, Divizia, A, Bucci, A, Salido, A, Morini, A, Muratore, A, Vignali, A, Chitul, A, Sebastian, D, Pcolkins, A, Shchegolev, A, Hollenbeck, A, Wisneski, A, Iossa, A, D'Amore, A, Hunter, A, Hesketh, A, La Brocca, A, Spinelli, A, Caires, A, D'Alessandro, A, Correo, A, Macri, A, Navarro-Sanchez, A, Pronk, A, Akunc, A, Mehri, A, Pelta, A, Papadopoulos, A, Kechagias, A, Rashid, A, Ramazanov, A, Chandio, A, Kohyama, A, Nishimura, A, Ohkawa, A, Dulskas, A, Jamal, A, Mariani, A, Unal, A, Karagoz, A, Ozkan, B, Salih, B, Gulcu, B, Pessia, B, Martin-Perez, B, Ielpo, B, Tulelli, B, Yang, B, Mhamed, B, Murphy, B, Langenhoff, B, Belevi, B, Guney, B, Ng, C, Rueda, C, Roxburgh, C, Feo, C, Ferrari, C, Gazia, C, Pratesi, C, Ratto, C, Santacruz, C, Arroyave, C, Macias, C, Fernandez, C, Curtis-Martinez, C, Fortmann, C, Kim, C, Galeano, C, Barroso, C, Baldi, C, Foppa, C, Formisano, C, Li, C, Ding, C, Wang, C, Iacusso, C, Yang, C, Pizzera, C, Skias, C, Chouliras, C, Liakos, C, Matsuda, C, Wu, C, Ozaslan, C, Tanda, C, Tommaso, C, Dagorno, C, Ramos, C, Arcudi, C, Coco, C, Morales, C, Ali, M, Lozano, C, Sala, C, Leo, C, Scarpa, C, Ferro, C, Morales-Garcia, D, Nakano, D, Cristian, D, Hechtl, D, Canovas, D, Calabrese, D, Rega, D, Ferraro, D, Morezzi, D, Sommacale, D, Brogden, D, Miskovic, D, Merlini, D, Pertile, D, Coniglio, D, Zhu, D, Wu, D, Coletta, D, Rubio, D, Sasia, D, Fillipov, D, Russiello, D, Dardanov, D, Consten, E, Smolskas, E, Muttillo, E, Jones, E, Sunami, E, Etienne, E, Chalkiadaki, E, Giacomelli, E, Karbovnichaya, E, Ruiz-Ucar, E, Guaitoli, E, Samadov, E, Jovine, E, Treppiedi, E, Vaterlini, E, Zambaiti, E, Moggia, E, Coetzee, E, Chisari, E, D'Errico, E, Ciofic, E, Pena, E, Kurt, E, Balik, E, Gunay, E, Sivrikoz, E, Andolfi, E, Araimo, E, Lucci, E, Opocher, E, Pinotti, E, Rubino, E, Reyhan, E, Mazzotta, E, Navarro, E, El-Helou, E, Licardie-Bolanos, E, Porto, E, Contreras, E, Boerma, E, Cianchi, F, Marino, F, Uggeri, F, Han, F, Calculli, F, Falaschi, F, Ghignone, F, Perrone, F, Borghi, F, Garcia, F, Agresta, F, Cananzi, F, Mendoza-Moreno, F, Cengiz, F, Almeida, F, Baracchi, F, Carannante, F, La Torre, F, Fernandes, F, Friedmacher, F, Grama, F, Carissimi, F, Pecchini, F, Bianco, F, Colombo, F, Ferrara, F, Litta, F, Carrano, F, Martignoni, F, Tasselli, F, Milone, F, Pata, F, Sammartino, F, Zambianchi, F, Barragan, F, Herrero, F, Schlottmann, F, Den Boer, F, Pfeffer, F, Fujita, F, Navarra, G, Herrera-Almario, G, Pozzo, G, Capolupo, G, Van Ramshorst, G, Liscia, G, Gallo, G, Asawa, G, Wang, G, Raiyani, G, Beets, G, Naval, G, Jin, G, Chang, G, Saakian, G, Kahane, G, Borroni, G, Secco, G, Baiocchi, G, Baronio, G, Pagano, G, Pattacini, G, Lisi, G, Milito, G, Sinibaldi, G, Serrao, G, Bagaglini, G, Sarro, G, Brisinda, G, Candilio, G, Mangiameli, G, Giuliani, G, Martin-Martin, G, Bodzin, G, Leon, G, Mackay, G, Vasil, G, Palmisano, G, Giovanna, G, Fernandez, G, Steingel, G, Zhang, G, Choi, G, Chen, H, Hirose, H, Kayano, H, Ulgur, H, Impellizzeri, H, Ariola, H, Liu, H, Medina, H, Miyauchi, H, Takahashi, H, Hayashi, H, Ishikawa, H, Ishida, H, De Vries, H, Ulman, H, Kon, H, Ota, H, Akamatsu, H, Tamagawa, H, Shoji, H, Egi, H, Matsubara, H, Miki, H, Elfeki, H, Lin, H, Giani, I, Caravaca-Garcia, I, Takemasa, I, Angriman, I, Negoi, I, Volkova, I, Russo, I, Kronberger, I, Shageev, I, Aydin, I, Mora Guzman, I, Novak, I, Giuliano, I, Rachmuth, J, Ngu, J, Glasbey, J, Stoot, J, Zatecky, J, Melenhorst, J, Van Der Wal, J, Leijtens, J, Bogach, J, Elliott, J, De Wilt, J, Han, J, Cui, J, Liu, J, Khan, J, Wirawan, J, Zhang, J, Manyari, J, Doerner, J, Bock, J, Konsten, J, Castro, J, Grobas, J, Pereira, J, Juloski, J, Laina, J, Solorzano, J, Lopez, J, Li, J, Watanabe, J, Kwak, J, Hasegawa, J, Hiro, J, Sergey, K, Zhang, K, Nagahori, K, Martinez, K, Tokuhara, K, Danno, K, Uehara, K, Yoshimatsu, K, Ehara, K, Ueda, K, Suda, K, Yamamoto, K, Ishimaru, K, Kimura, K, Hirata, K, Deen, K, Imaizumi, K, Yamada, J, Tanakura, K, Rida, K, Sugimoto, K, Kotaro, K, Shi, K, Okabayashi, K, Hida, K, Kataoka, K, Hongo, K, Xia, K, Tseng, L, Reime, L, Lorenzon, L, Ruano, L, Zhou, L, De Nes, L, Brandariz, L, Morini, L, Petagna, L, Ripamonti, L, Martinez, L, Pio, L, Sacco, L, Carvalho, L, Zorcolo, L, Perez-Sanchez, L, Esparza, L, Aguilar, L, Garner, M, Sugimoto, M, Nagashima, M, Shiozawa, M, Simone, M, Ferrer-Marquez, M, Carvalho, M, Alifano, M, Arganini, M, Calussi, M, Catarci, M, Allaix, M, Forlin, M, Milone, M, Paci, M, Fodor, M, Antipova, M, Martos, M, Giuffrida, M, Tabernilla, M, Quiros, M, Lemma, M, Correo, M, Malowiecka, M, Bellomo, M, Fernandez, M, Socias, M, Rizk, M, Aurora, M, Antolinez, M, Ninkovic, M, De Roos, M, Lara, M, Agustin, M, Cuadrado, M, Pascual, M, Lemmerer, M, Carlos, R, Okamoto, M, Miyo, M, Inomata, M, Ikenaga, M, Tsujie, M, Yasuno, M, Kotake, M, Sato, M, Yasui, M, Lavazza, M, Rottoli, M, Zuin, M, Zuluaga, M, Cervellera, M, Cesari, M, Zizzo, M, Garino, M, Ghirardi, M, Montuori, M, Podda, M, Santarelli, M, Koc, M, Baini, M, Manigrasso, M, Zuolo, M, Cunha, M, Misca, M, Slavchev, M, Danilov, M, Shigaev, M, Martens, M, Kobayashi, M, Ren, M, Ishizuka, M, Hassan, M, Siblini, M, Sahloul, M, Keramati, M, Karunakaran, M, Markel, M, Majeed, M, Younis, M, Akin, M, Laraibe, M, Derebey, M, Kendirci, M, Fukunaga, M, Matsubara, N, Ordaz, N, Samalavicius, N, Keeratibharat, N, de Angelis, N, Gica, N, Mariani, N, Ramino, N, Falco, N, Smart, N, De Korte, N, Kok, N, Jamieson, N, Aberyasev, N, Bruklich, N, Ichikawa, N, Miyoshi, N, De Palma, N, Figueiredo, N, Torrecilla, N, Dybov, O, Yudin, O, Crepin, O, Gomez, O, Sert, O, Lominchar, P, Menendez, P, De Nardi, P, Tejedor, P, Jordan, P, Tan, P, Marsanic, P, Natalya, P, Banos, P, Rebasa, P, Neary, P, Tanis, P, Giustacchini, P, Anoldo, P, Concejo, P, Cao, P, Chandrasinghe, P, Abeyratne, P, Wang, Q, Klicks, R, Riquelme, R, Galli, R, Gianesini, R, Moorjani, R, Deshpande, R, Gorter, R, Ledesma, R, Ruslan, R, Chhabra, R, Talreja-Pelaez, R, Suzuki, R, Balestri, R, Rosati, R, Kiblawi, R, Martins, R, Angelico, R, Tutino, R, Persiani, R, Pollastri, R, Lopez, R, Perez, R, Hompes, R, Lukanin, R, Roser Termes Serra, R, Brunaccino, R, Nakanishi, R, Stefan, S, Hernandez, S, Di Carlo, S, Ingallinella, S, Domoto, S, Ikeda, S, Mikalauskas, S, Kim, S, Mantova, S, Barbuta, S, Li, S, Yamaguchi, S, Yamagishi, S, Homma, S, Tsujinaka, S, Yoshioka, S, Mori, S, Tewari, S, Rayman, S, Horiuchi, S, Matoba, S, Morita, S, Yaman, S, Vigna, S, Testa, S, Ng, S, Deidda, S, Cicconi, S, Di Maria, S, Sibio, S, Ersoz, S, Pejkova, S, Altarifi, S, He, S, Malakorn, S, Meindert, S, Sumikawa, S, Parmar, S, Uranitsch, S, D'Ugo, S, Giuliani, S, Breukink, S, Lee, S, Hata, T, Ishikawa, T, Akiyoshi, T, Azuma, T, Kobatake, T, Fukuzaki, T, Aiyama, T, Yamada, T, Garmanova, T, Gomez-Sanchez, T, Yamaguchi, T, Flores, T, Usub, T, Tsuruma, T, Shimizu, T, Hristov, T, Van Loon, T, Funakoshi, T, Manzia, T, Kiyomatsu, T, Katayama, T, Kazuhito, U, Elmore, U, Grossi, U, Truchalev, V, Rodriguez, V, Testa, V, Tonini, V, Celentano, V, Bettencourt, V, Mammadov, V, Leyva, V, Mariscal, V, Seid, V, Klemann, V, Turrado-Rodriguez, V, Papagni, V, Vento, V, Frering, V, Vigorita, V, Petrove, V, Lyadov, V, Fu, W, Mi, W, Jeong, W, Leclercq, W, De Sousa, X, Zhao, X, Li, X, Wang, X, Yang, X, Zhang, X, Dong, Y, Erushevich, Y, Takii, Y, Sumi, Y, Loli, Y, Yifat, Y, Shimada, Y, Nabeya, Y, Ide, Y, Wu, Y, Tsukada, Y, Miyamoto, Y, Toiyama, Y, Fujie, Y, Kaneko, Y, Mokutani, Y, Fujii, Y, Kanemitsu, Y, Medkova, Y, Chen, Y, Ruiz, Y, Kinugasa, Y, Sow, Z, Razzaq, Z, Wang, Z, Liu, Z, Han, Z, Tai, Z, Lai, Z, Ng, Z, Dambrauskas, Z, Bellato V., Konishi T., Pellino G., An Y., Piciocchi A., Sensi B., Siragusa L., Khanna K., Pirozzi B. M., Franceschilli M., Campanelli M., Efetov S., Sica G. S., Kefleyesus A., Hoofwijk A. G. M., Eldaly A. S., Gonzalez A., Jawad A., Jooma A., Hafez A. M., Rubio A. V., Landaluce-Olavarria A., Wu A., Nagatsu A., Inoue A., Kanamoto A., Ouchi A., El-Hussuna A., Vazquez-Melero A., Wolthuis A. M., Peral A. M., Lozano A. C., Efremov A., Ryasantsev A. V., Di Giorgio A., Parente A., Tamburrini A., Alo A., Forero-Torres A., Vahrmeijer A. L., Varabei A., Hinojosa S., Balkan A. Z. A., Frontali A., Oleg A., Soler-Silva A., Makni A., Andre A., Cabrera A. M. G., Fernandez A. M. G., Minaya-Bravo A. M., Rodriguez-Sanchez A., Musina A. -M., Pangeni A., Zolotko A., Tonoyan A., Balla A., Belli A., Cavallaro A., Chierici A., Divizia A., Bucci A. F., Salido A. J., Morini A., Muratore A., Vignali A., Chitul A., Sebastian D. A., Pcolkins A., Shchegolev A., Hollenbeck A., Wisneski A., Iossa A., D'Amore A., Hunter A., Hesketh A. J., La Brocca A., Spinelli A., Caires A., D'Alessandro A., Correo A. F. S. L., Macri A., Navarro-Sanchez A., Pronk A., Akunc A., Mehri A., Pelta A., Papadopoulos A., Kechagias A., Rashid A., Ramazanov A., Chandio A., Kohyama A., Nishimura A., Ohkawa A., Dulskas A., Jamal A., Mariani A., Unal A. G., Karagoz A., Ozkan B. B., Salih B., Gulcu B., Pessia B., Martin-Perez B., Ielpo B., Tulelli B., Yang B., Mhamed B., Murphy B., Langenhoff B., Belevi B., Guney B., Ng C., Rueda C., Roxburgh C. S., Feo C. V., Ferrari C., Gazia C., Pratesi C., Ratto C., Santacruz C. C., Arroyave C. R. M., Macias C., Fernandez C. G., Fernandez C. C., Curtis-Martinez C., Fortmann C., Kim C., Galeano C. U., Barroso C., Baldi C., Foppa C., Formisano C., Li C., Ding C., Wang C., Iacusso C., Yang C., Pizzera C., Skias C., Chouliras C., Liakos C., Matsuda C., Wu C. -Y., Ozaslan C., Tanda C., Tommaso C. M., Dagorno C., Ramos C. P. A., Arcudi C., Coco C., Morales C. M., Ali M. Z., Lozano C. C., Sala C., Leo C. A., Scarpa C. R., Ferro C. V., Fernandez C. M., Morales-Garcia D., Nakano D., Cristian D., Hechtl D., Canovas D. T., Calabrese D., Rega D., Ferraro D., Morezzi D., Sommacale D., Brogden D., Miskovic D., Merlini D., Pertile D., Coniglio D., Zhu D., Wu D., Coletta D., Rubio D. R., Sasia D., Fillipov D., Russiello D., Dardanov D., Consten E. C. J., Smolskas E., Muttillo E. M., Jones E., Sunami E., Etienne E. -H., Chalkiadaki E., Giacomelli E., Karbovnichaya E., Ruiz-Ucar E., Guaitoli E., Samadov E., Jovine E., Treppiedi E., Vaterlini E. M., Zambaiti E., Moggia E., Coetzee E., Chisari E., D'Errico E., Ciofic E., Pena E., Kurt E., Balik E., Gunay E., Sivrikoz E., Andolfi E., Araimo E., Lucci E., Opocher E., Pinotti E., Rubino E., Reyhan E., Mazzotta E., Navarro E. B., El-Helou E., Licardie-Bolanos E., Porto E. I., Contreras E., Boerma E. -J., Cianchi F., Marino F., Uggeri F., Han F., Calculli F., Falaschi F., Ghignone F., Perrone F., Borghi F., Garcia F., Agresta F., Cananzi F. C. M., Mendoza-Moreno F., Cengiz F., Almeida F. M., Baracchi F., Carannante F., La Torre F., Fernandes F., Friedmacher F., Grama F., Carissimi F., Pecchini F., Bianco F., Colombo F., Ferrara F., Litta F., Carrano F. M., Martignoni F., Tasselli F. M., Milone F., Pata F., Sammartino F., Zambianchi F., Barragan F., Herrero F., Schlottmann F., Den Boer F. C., Pfeffer F., Fujita F., Navarra G., Herrera-Almario G., Pozzo G., Capolupo G. T., Van Ramshorst G. H., Liscia G., Gallo G., Asawa G., Wang G., Raiyani G., Beets G., Naval G. S., Jin G., Chang G. J., Saakian G., Kahane G., Borroni G., Secco G. L., Baiocchi G. L., Baronio G., Pagano G., Pattacini G. C., Lisi G., Milito G., Sinibaldi G., Serrao G., Bagaglini G., Sarro G., Brisinda G., Candilio G., Mangiameli G., Giuliani G., Martin-Martin G. P., Bodzin G., Leon G., Mackay G., Vasil G., Palmisano G., Giovanna G. M., Fernandez G. C., Steingel G. B., Zhang G., Choi G. S., Chen H., Hirose H., Kayano H., Ulgur H. S., Impellizzeri H., Ariola H., Liu H., Medina H., Miyauchi H., Takahashi H., Hayashi H., Ishikawa H., Ishida H., De Vries H., Ulman H., Kon H., Ota H., Akamatsu H., Tamagawa H., Shoji H., Egi H., Matsubara H., Miki H., Elfeki H., Lin H. -H., Giani I., Caravaca-Garcia I., Takemasa I., Angriman I., Negoi I., Volkova I., Russo I., Kronberger I. E., Shageev I., Aydin I., Mora Guzman I., Novak I., Giuliano I., Rachmuth J., Ngu J. C. -Y., Glasbey J., Stoot J., Zatecky J., Melenhorst J., Van Der Wal J. B. C., Leijtens J., Bogach J., Elliott J., De Wilt J. H. W., Han J., Cui J., Liu J., Khan J., Wirawan J. P., Zhang J., Manyari J. D. O., Doerner J., Bock J., Konsten J., Castro J. M., Grobas J. P., Pereira J., Juloski J., Laina J. L. B., Solorzano J. J., Lopez J. R. G., Li J., Watanabe J., Kwak J. -M., Hasegawa J., Hiro J., Sergey K., Zhang K., Nagahori K., Martinez K., Tokuhara K., Danno K., Uehara K., Yoshimatsu K., Ehara K., Ueda K., Suda K., Yamamoto K., Ishimaru K., Kimura K., Hirata K., Deen K., Imaizumi K., Yamada J., Tanakura K., Rida K., Sugimoto K., Kotaro K., Shi K., Okabayashi K., Hida K., Kataoka K., Hongo K., Xia K., Tseng L., Reime L., Lorenzon L., Ruano L. M., Zhou L., De Nes L., Brandariz L., Morini L., Petagna L., Ripamonti L., Martinez L. H., Pio L., Sacco L., Carvalho L., Zorcolo L., Perez-Sanchez L. E., Esparza L. H. R., Aguilar L. T., Garner M., Sugimoto M., Nagashima M., Shiozawa M., Simone M., Ferrer-Marquez M., Carvalho M., Alifano M., Arganini M., Calussi M., Catarci M., Allaix M. E., Forlin M., Milone M., Paci M., Fodor M., Antipova M., Martos M. B., Giuffrida M. C., Tabernilla M. D., Quiros M. J. A., Lemma M., Correo M. L. R. D., Malowiecka M., Bellomo M. P., Fernandez M. R., Socias M., Rizk M., Aurora M., Antolinez M. A., Ninkovic M., Giuffrida M., De Roos M. A. J., Lara M. C., Agustin M. C., Cuadrado M., Pascual M., Lemmerer M., Carlos R., Okamoto M., Miyo M., Inomata M., Ikenaga M., Tsujie M., Yasuno M., Kotake M., Sato M., Yasui M., Lavazza M., Rottoli M., Zuin M., Zuluaga M., Cervellera M., Cesari M., Zizzo M., Garino M., Ghirardi M., Montuori M., Podda M., Santarelli M., Koc M. A., Baini M., Manigrasso M., Zuolo M., Cunha M. F., Misca M., Slavchev M., Danilov M., Shigaev M., Martens M., Kobayashi M., Ren M., Ishizuka M., Hassan M. M., Siblini M., Sahloul M., Keramati M. R., Karunakaran M., Markel M., Majeed M., Younis M. U., Akin M. I., Laraibe M., Derebey M., Kendirci M., Fukunaga M., Matsubara N., Ordaz N. E. C., Samalavicius N. E., Keeratibharat N., de Angelis N., Gica N., Mariani N. M., Ramino N., Falco N., Smart N., De Korte N., Kok N. F. M., Jamieson N. B., Aberyasev N., Bruklich N., Ichikawa N., Miyoshi N., De Palma N., Figueiredo N., Torrecilla N. O., Dybov O. 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H., Mantova S., Barbuta S., Li S., Yamaguchi S., Yamagishi S., Homma S., Tsujinaka S., Yoshioka S., Mori S., Tewari S., Rayman S., Horiuchi S., Matoba S., Morita S., Yaman S., Vigna S., Testa S., Ng S., Deidda S., Cicconi S., Di Maria S., Sibio S., Ersoz S., Pejkova S., Altarifi S., He S., Malakorn S., Meindert S., Sumikawa S., Parmar S., Uranitsch S., D'ugo S., Giuliani S., Breukink S., Lee S. -H., Hata T., Ishikawa T., Akiyoshi T., Azuma T., Kobatake T., Fukuzaki T., Aiyama T., Yamada T., Garmanova T., Gomez-Sanchez T., Yamaguchi T., Flores T. D. J., Usub T., Tsuruma T., Shimizu T., Hristov T. G., Van Loon T., Funakoshi T., Manzia T. M., Kiyomatsu T., Katayama T., Kazuhito U., Elmore U., Grossi U., Truchalev V. A., Rodriguez V. S., Testa V., Tonini V., Celentano V., Bettencourt V., Mammadov V., Leyva V. A. G., Mariscal V. G. O., Seid V. E., Klemann V., Turrado-Rodriguez V., Papagni V., Vento V., Frering V., Vigorita V., Petrove V. V., Lyadov V., Fu W., Mi W., Jeong W. 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L., Macri A., Navarro-Sanchez A., Pronk A., Akunc A., Mehri A., Pelta A., Papadopoulos A., Kechagias A., Rashid A., Ramazanov A., Chandio A., Kohyama A., Nishimura A., Ohkawa A., Dulskas A., Jamal A., Mariani A., Unal A. G., Karagoz A., Ozkan B. B., Salih B., Gulcu B., Pessia B., Martin-Perez B., Ielpo B., Tulelli B., Yang B., Mhamed B., Murphy B., Langenhoff B., Belevi B., Guney B., Ng C., Rueda C., Roxburgh C. S., Feo C. V., Ferrari C., Gazia C., Pratesi C., Ratto C., Santacruz C. C., Arroyave C. R. M., Macias C., Fernandez C. G., Fernandez C. C., Curtis-Martinez C., Fortmann C., Kim C., Galeano C. U., Barroso C., Baldi C., Foppa C., Formisano C., Li C., Ding C., Wang C., Iacusso C., Yang C., Pizzera C., Skias C., Chouliras C., Liakos C., Matsuda C., Wu C. -Y., Ozaslan C., Tanda C., Tommaso C. M., Dagorno C., Ramos C. P. A., Arcudi C., Coco C., Morales C. M., Ali M. Z., Lozano C. C., Sala C., Leo C. A., Scarpa C. R., Ferro C. V., Fernandez C. M., Morales-Garcia D., Nakano D., Cristian D., Hechtl D., Canovas D. T., Calabrese D., Rega D., Ferraro D., Morezzi D., Sommacale D., Brogden D., Miskovic D., Merlini D., Pertile D., Coniglio D., Zhu D., Wu D., Coletta D., Rubio D. R., Sasia D., Fillipov D., Russiello D., Dardanov D., Consten E. C. J., Smolskas E., Muttillo E. M., Jones E., Sunami E., Etienne E. -H., Chalkiadaki E., Giacomelli E., Karbovnichaya E., Ruiz-Ucar E., Guaitoli E., Samadov E., Jovine E., Treppiedi E., Vaterlini E. M., Zambaiti E., Moggia E., Coetzee E., Chisari E., D'Errico E., Ciofic E., Pena E., Kurt E., Balik E., Gunay E., Sivrikoz E., Andolfi E., Araimo E., Lucci E., Opocher E., Pinotti E., Rubino E., Reyhan E., Mazzotta E., Navarro E. B., El-Helou E., Licardie-Bolanos E., Porto E. I., Contreras E., Boerma E. -J., Cianchi F., Marino F., Uggeri F., Han F., Calculli F., Falaschi F., Ghignone F., Perrone F., Borghi F., Garcia F., Agresta F., Cananzi F. C. M., Mendoza-Moreno F., Cengiz F., Almeida F. 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S., Impellizzeri H., Ariola H., Liu H., Medina H., Miyauchi H., Takahashi H., Hayashi H., Ishikawa H., Ishida H., De Vries H., Ulman H., Kon H., Ota H., Akamatsu H., Tamagawa H., Shoji H., Egi H., Matsubara H., Miki H., Elfeki H., Lin H. -H., Giani I., Caravaca-Garcia I., Takemasa I., Angriman I., Negoi I., Volkova I., Russo I., Kronberger I. E., Shageev I., Aydin I., Mora Guzman I., Novak I., Giuliano I., Rachmuth J., Ngu J. C. -Y., Glasbey J., Stoot J., Zatecky J., Melenhorst J., Van Der Wal J. B. C., Leijtens J., Bogach J., Elliott J., De Wilt J. H. W., Han J., Cui J., Liu J., Khan J., Wirawan J. P., Zhang J., Manyari J. D. O., Doerner J., Bock J., Konsten J., Castro J. M., Grobas J. P., Pereira J., Juloski J., Laina J. L. B., Solorzano J. J., Lopez J. R. G., Li J., Watanabe J., Kwak J. -M., Hasegawa J., Hiro J., Sergey K., Zhang K., Nagahori K., Martinez K., Tokuhara K., Danno K., Uehara K., Yoshimatsu K., Ehara K., Ueda K., Suda K., Yamamoto K., Ishimaru K., Kimura K., Hirata K., Deen K., Imaizumi K., Yamada J., Tanakura K., Rida K., Sugimoto K., Kotaro K., Shi K., Okabayashi K., Hida K., Kataoka K., Hongo K., Xia K., Tseng L., Reime L., Lorenzon L., Ruano L. M., Zhou L., De Nes L., Brandariz L., Morini L., Petagna L., Ripamonti L., Martinez L. H., Pio L., Sacco L., Carvalho L., Zorcolo L., Perez-Sanchez L. E., Esparza L. H. R., Aguilar L. T., Garner M., Sugimoto M., Nagashima M., Shiozawa M., Simone M., Ferrer-Marquez M., Carvalho M., Alifano M., Arganini M., Calussi M., Catarci M., Allaix M. E., Forlin M., Milone M., Paci M., Fodor M., Antipova M., Martos M. B., Giuffrida M. C., Tabernilla M. D., Quiros M. J. A., Lemma M., Correo M. L. R. D., Malowiecka M., Bellomo M. P., Fernandez M. R., Socias M., Rizk M., Aurora M., Antolinez M. A., Ninkovic M., Giuffrida M., De Roos M. A. J., Lara M. C., Agustin M. C., Cuadrado M., Pascual M., Lemmerer M., Carlos R., Okamoto M., Miyo M., Inomata M., Ikenaga M., Tsujie M., Yasuno M., Kotake M., Sato M., Yasui M., Lavazza M., Rottoli M., Zuin M., Zuluaga M., Cervellera M., Cesari M., Zizzo M., Garino M., Ghirardi M., Montuori M., Podda M., Santarelli M., Koc M. A., Baini M., Manigrasso M., Zuolo M., Cunha M. F., Misca M., Slavchev M., Danilov M., Shigaev M., Martens M., Kobayashi M., Ren M., Ishizuka M., Hassan M. M., Siblini M., Sahloul M., Keramati M. R., Karunakaran M., Markel M., Majeed M., Younis M. U., Akin M. I., Laraibe M., Derebey M., Kendirci M., Fukunaga M., Matsubara N., Ordaz N. E. C., Samalavicius N. E., Keeratibharat N., de Angelis N., Gica N., Mariani N. M., Ramino N., Falco N., Smart N., De Korte N., Kok N. F. M., Jamieson N. B., Aberyasev N., Bruklich N., Ichikawa N., Miyoshi N., De Palma N., Figueiredo N., Torrecilla N. O., Dybov O. G., Yudin O., Crepin O., Gomez O., Sert O. Z., Lominchar P. L., Menendez P., De Nardi P., Tejedor P., Jordan P., Tan P., Marsanic P., Natalya P., Banos P. P., Rebasa P., Neary P. M., Tanis P., Giustacchini P., Anoldo P., Concejo P., Cao P., Chandrasinghe P., Abeyratne P., Wang Q., Klicks R. J., Riquelme R. F., Galli R., Gianesini R., Moorjani R. G., Deshpande R. K., Gorter R., Ledesma R. L., Ruslan R., Chhabra R., Talreja-Pelaez R., Suzuki R., Balestri R., Rosati R., Kiblawi R., Martins R., Angelico R., Tutino R., Persiani R., Pollastri R., Lopez R. G., Perez R. O., Hompes R., Lukanin R., Roser Termes Serra R., Brunaccino R., Nakanishi R., Stefan S., Hernandez S. P. S., Di Carlo S., Ingallinella S., Domoto S., Ikeda S., Mikalauskas S., Kim S. H., Mantova S., Barbuta S., Li S., Yamaguchi S., Yamagishi S., Homma S., Tsujinaka S., Yoshioka S., Mori S., Tewari S., Rayman S., Horiuchi S., Matoba S., Morita S., Yaman S., Vigna S., Testa S., Ng S., Deidda S., Cicconi S., Di Maria S., Sibio S., Ersoz S., Pejkova S., Altarifi S., He S., Malakorn S., Meindert S., Sumikawa S., Parmar S., Uranitsch S., D'ugo S., Giuliani S., Breukink S., Lee S. -H., Hata T., Ishikawa T., Akiyoshi T., Azuma T., Kobatake T., Fukuzaki T., Aiyama T., Yamada T., Garmanova T., Gomez-Sanchez T., Yamaguchi T., Flores T. D. J., Usub T., Tsuruma T., Shimizu T., Hristov T. G., Van Loon T., Funakoshi T., Manzia T. M., Kiyomatsu T., Katayama T., Kazuhito U., Elmore U., Grossi U., Truchalev V. A., Rodriguez V. S., Testa V., Tonini V., Celentano V., Bettencourt V., Mammadov V., Leyva V. A. G., Mariscal V. G. O., Seid V. E., Klemann V., Turrado-Rodriguez V., Papagni V., Vento V., Frering V., Vigorita V., Petrove V. V., Lyadov V., Fu W., Mi W., Jeong W. K., Leclercq W. K. G., De Sousa X., Zhao X., Li X., Wang X., Yang X., Zhang X., Dong Y., Erushevich Y., Takii Y., Sumi Y., Loli Y. T., Yifat Y. L., Shimada Y., Nabeya Y., Ide Y., Wu Y., Tsukada Y., Miyamoto Y., Toiyama Y., Fujie Y., Kaneko Y., Mokutani Y., Fujii Y., Kanemitsu Y., Medkova Y., Chen Y., Ruiz Y. G., Kinugasa Y., Sow Z., Razzaq Z., Wang Z., Liu Z., Han Z., Tai Z., Lai Z., Ng Z. Q., and Dambrauskas Z.
- Published
- 2020
4. Surgeons' fear of getting infected by COVID19: A global survey
- Author
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An, Y, Bellato, V, Konishi, T, Pellino, G, Sensi, B, Siragusa, L, Franceschilli, M, Sica, G, Kefleyesus, A, Hoofwijk, A, Eldaly, A, Gonzalez, A, Jawad, A, Jooma, A, Hafez, A, Rubio, A, Landaluce-Olavarria, A, Wu, A, Nagatsu, A, Inoue, A, Kanamoto, A, Ouchi, A, El-Hussuna, A, Vazquez-Melero, A, Wolthuis, A, Peral, A, Lozano, A, Efremov, A, Ryasantsev, A, Di Giorgio, A, Parente, A, Tamburrini, A, Alo, A, Forero-Torres, A, Vahrmeijer, A, Varabei, A, Hinojosa, S, Balkan, A, Frontali, A, Oleg, A, Soler-Silva, A, Makni, A, Andre, A, Cabrera, A, Fernandez, A, Minaya-Bravo, A, Rodriguez-Sanchez, A, Musina, A, Pangeni, A, Zolotko, A, Tonoyan, A, Balla, A, Belli, A, Cavallaro, A, Chierici, A, Divizia, A, Bucci, A, Salido, A, Morini, A, Muratore, A, Vignali, A, Chitul, A, Sebastian, D, Pcolkins, A, Shchegolev, A, Hollenbeck, A, Wisneski, A, Iossa, A, D'Amore, A, Hunter, A, Hesketh, A, La Brocca, A, Spinelli, A, Caires, A, D'Alessandro, A, Correo, A, Macri, A, Navarro-Sanchez, A, Pronk, A, Akunc, A, Mehri, A, Pelta, A, Papadopoulos, A, Kechagias, A, Rashid, A, Ramazanov, A, Chandio, A, Kohyama, A, Nishimura, A, Ohkawa, A, Dulskas, A, Jamal, A, Mariani, A, Unal, A, Karagoz, A, Ozkan, B, Salih, B, Gulcu, B, Pessia, B, Martin-Perez, B, Ielpo, B, Tulelli, B, Yang, B, Mhamed, B, Murphy, B, Pirozzi, B, Langenhoff, B, Belevi, B, Guney, B, Ng, C, Rueda, C, Roxburgh, C, Feo, C, Ferrari, C, Gazia, C, Pratesi, C, Ratto, C, Santacruz, C, Arroyave, C, Macias, C, Fernandez, C, Curtis-Martinez, C, Fortmann, C, Kim, C, Galeano, C, Barroso, C, Baldi, C, Foppa, C, Formisano, C, Li, C, Ding, C, Wang, C, Iacusso, C, Yang, C, Pizzera, C, Skias, C, Chouliras, C, Liakos, C, Matsuda, C, Wu, C, Ozaslan, C, Tanda, C, Tommaso, C, Dagorno, C, Ramos, C, Arcudi, C, Coco, C, Morales, C, Ali, M, Lozano, C, Sala, C, Leo, C, Scarpa, C, Ferro, C, Morales-Garcia, D, Nakano, D, Cristian, D, Hechtl, D, Canovas, D, Calabrese, D, Rega, D, Ferraro, D, Morezzi, D, Sommacale, D, Brogden, D, Miskovic, D, Merlini, D, Pertile, D, Coniglio, D, Zhu, D, Wu, D, Coletta, D, Rubio, D, Sasia, D, Fillipov, D, Russiello, D, Dardanov, D, Consten, E, Smolskas, E, Muttillo, E, Jones, E, Sunami, E, Etienne, E, Chalkiadaki, E, Giacomelli, E, Karbovnichaya, E, Ruiz-Ucar, E, Guaitoli, E, Samadov, E, Jovine, E, Treppiedi, E, Vaterlini, E, Zambaiti, E, Moggia, E, Coetzee, E, Chisari, E, D'Errico, E, Ciofic, E, Pena, E, Kurt, E, Balik, E, Gunay, E, Sivrikoz, E, Andolfi, E, Araimo, E, Lucci, E, Opocher, E, Pinotti, E, Rubino, E, Reyhan, E, Mazzotta, E, Navarro, E, El-Helou, E, Licardie-Bolanos, E, Porto, E, Contreras, E, Boerma, E, Cianchi, F, Marino, F, Uggeri, F, Han, F, Calculli, F, Falaschi, F, Ghignone, F, Perrone, F, Borghi, F, Garcia, F, Agresta, F, Cananzi, F, Mendoza-Moreno, F, Cengiz, F, Almeida, F, Baracchi, F, Carannante, F, La Torre, F, Fernandes, F, Friedmacher, F, Grama, F, Carissimi, F, Pecchini, F, Bianco, F, Colombo, F, Ferrara, F, Litta, F, Carrano, F, Martignoni, F, Tasselli, F, Milone, F, Pata, F, Sammartino, F, Zambianchi, F, Barragan, F, Herrero, F, Schlottmann, F, Den Boer, F, Pfeffer, F, Fujita, F, Navarra, G, Herrera-Almario, G, Pozzo, G, Capolupo, G, Van Ramshorst, G, Liscia, G, Gallo, G, Asawa, G, Wang, G, Raiyani, G, Beets, G, Naval, G, Jin, G, Chang, G, Saakian, G, Kahane, G, Borroni, G, Secco, G, Baiocchi, G, Baronio, G, Pagano, G, Pattacini, G, Lisi, G, Milito, G, Sinibaldi, G, Serrao, G, Bagaglini, G, Sarro, G, Brisinda, G, Candilio, G, Mangiameli, G, Giuliani, G, Martin-Martin, G, Bodzin, G, Leon, G, Mackay, G, Vasil, G, Palmisano, G, Giovanna, G, Fernandez, G, Steingel, G, Zhang, G, Choi, G, Chen, H, Hirose, H, Kayano, H, Ulgur, H, Impellizzeri, H, Ariola, H, Liu, H, Medina, H, Miyauchi, H, Takahashi, H, Hayashi, H, Ishikawa, H, Ishida, H, De Vries, H, Ulman, H, Kon, H, Ota, H, Akamatsu, H, Tamagawa, H, Shoji, H, Egi, H, Matsubara, H, Miki, H, Elfeki, H, Lin, H, Giani, I, Caravaca-Garcia, I, Takemasa, I, Angriman, I, Negoi, I, Volkova, I, Russo, I, Kronberger, I, Shageev, I, Aydin, I, Mora Guzman, I, Novak, I, Giuliano, I, Rachmuth, J, Ngu, J, Glasbey, J, Stoot, J, Zatecky, J, Melenhorst, J, Van Der Wal, J, Leijtens, J, Bogach, J, Elliott, J, De Wilt, J, Han, J, Cui, J, Liu, J, Khan, J, Wirawan, J, Zhang, J, Manyari, J, Doerner, J, Bock, J, Konsten, J, Castro, J, Grobas, J, Pereira, J, Juloski, J, Laina, J, Solorzano, J, Lopez, J, Li, J, Watanabe, J, Kwak, J, Hasegawa, J, Hiro, J, Sergey, K, Zhang, K, Nagahori, K, Martinez, K, Tokuhara, K, Danno, K, Uehara, K, Yoshimatsu, K, Ehara, K, Ueda, K, Suda, K, Yamamoto, K, Ishimaru, K, Kimura, K, Hirata, K, Deen, K, Imaizumi, K, Yamada, J, Tanakura, K, Rida, K, Sugimoto, K, Kotaro, K, Shi, K, Okabayashi, K, Hida, K, Kataoka, K, Hongo, K, Xia, K, Tseng, L, Reime, L, Lorenzon, L, Ruano, L, Zhou, L, De Nes, L, Brandariz, L, Morini, L, Petagna, L, Ripamonti, L, Martinez, L, Pio, L, Sacco, L, Carvalho, L, Zorcolo, L, Perez-Sanchez, L, Esparza, L, Aguilar, L, Garner, M, Sugimoto, M, Nagashima, M, Shiozawa, M, Simone, M, Ferrer-Marquez, M, Carvalho, M, Alifano, M, Arganini, M, Calussi, M, Catarci, M, Allaix, M, Forlin, M, Milone, M, Paci, M, Fodor, M, Antipova, M, Martos, M, Giuffrida, M, Tabernilla, M, Quiros, M, Lemma, M, Correo, M, Malowiecka, M, Bellomo, M, Fernandez, M, Socias, M, Rizk, M, Aurora, M, Antolinez, M, Ninkovic, M, De Roos, M, Lara, M, Agustin, M, Cuadrado, M, Pascual, M, Lemmerer, M, Carlos, R, Okamoto, M, Miyo, M, Inomata, M, Ikenaga, M, Tsujie, M, Yasuno, M, Kotake, M, Sato, M, Yasui, M, Lavazza, M, Rottoli, M, Zuin, M, Zuluaga, M, Cervellera, M, Cesari, M, Zizzo, M, Garino, M, Ghirardi, M, Montuori, M, Podda, M, Santarelli, M, Koc, M, Baini, M, Campanelli, M, Manigrasso, M, Zuolo, M, Cunha, M, Misca, M, Slavchev, M, Danilov, M, Shigaev, M, Martens, M, Kobayashi, M, Ren, M, Ishizuka, M, Hassan, M, Siblini, M, Sahloul, M, Keramati, M, Karunakaran, M, Markel, M, Majeed, M, Younis, M, Akin, M, Laraibe, M, Derebey, M, Kendirci, M, Fukunaga, M, Matsubara, N, Ordaz, N, Samalavicius, N, Keeratibharat, N, de Angelis, N, Gica, N, Mariani, N, Ramino, N, Falco, N, Smart, N, De Korte, N, Kok, N, Jamieson, N, Aberyasev, N, Bruklich, N, Ichikawa, N, Miyoshi, N, De Palma, N, Figueiredo, N, Torrecilla, N, Dybov, O, Yudin, O, Crepin, O, Gomez, O, Sert, O, Lominchar, P, Menendez, P, De Nardi, P, Tejedor, P, Jordan, P, Tan, P, Marsanic, P, Natalya, P, Banos, P, Rebasa, P, Neary, P, Tanis, P, Giustacchini, P, Anoldo, P, Concejo, P, Cao, P, Chandrasinghe, P, Abeyratne, P, Wang, Q, Klicks, R, Riquelme, R, Galli, R, Gianesini, R, Moorjani, R, Deshpande, R, Gorter, R, Ledesma, R, Ruslan, R, Chhabra, R, Talreja-Pelaez, R, Suzuki, R, Balestri, R, Rosati, R, Kiblawi, R, Martins, R, Angelico, R, Tutino, R, Persiani, R, Pollastri, R, Lopez, R, Perez, R, Hompes, R, Lukanin, R, Roser Termes Serra, R, Brunaccino, R, Nakanishi, R, Stefan, S, Hernandez, S, Di Carlo, S, Ingallinella, S, Domoto, S, Ikeda, S, Mikalauskas, S, Kim, S, Mantova, S, Barbuta, S, Li, S, Yamaguchi, S, Yamagishi, S, Homma, S, Tsujinaka, S, Yoshioka, S, Mori, S, Tewari, S, Rayman, S, Horiuchi, S, Matoba, S, Morita, S, Yaman, S, Vigna, S, Testa, S, Ng, S, Deidda, S, Cicconi, S, Di Maria, S, Sibio, S, Ersoz, S, Pejkova, S, Altarifi, S, He, S, Malakorn, S, Meindert, S, Sumikawa, S, Parmar, S, Uranitsch, S, D'Ugo, S, Giuliani, S, Breukink, S, Lee, S, Hata, T, Ishikawa, T, Akiyoshi, T, Azuma, T, Kobatake, T, Fukuzaki, T, Aiyama, T, Yamada, T, Garmanova, T, Gomez-Sanchez, T, Yamaguchi, T, Flores, T, Usub, T, Tsuruma, T, Shimizu, T, Hristov, T, Van Loon, T, Funakoshi, T, Manzia, T, Kiyomatsu, T, Katayama, T, Kazuhito, U, Elmore, U, Grossi, U, Truchalev, V, Rodriguez, V, Testa, V, Tonini, V, Celentano, V, Bettencourt, V, Mammadov, V, Leyva, V, Mariscal, V, Seid, V, Klemann, V, Turrado-Rodriguez, V, Papagni, V, Vento, V, Frering, V, Vigorita, V, Petrove, V, Lyadov, V, Fu, W, Mi, W, Jeong, W, Leclercq, W, De Sousa, X, Zhao, X, Li, X, Wang, X, Yang, X, Zhang, X, Dong, Y, Erushevich, Y, Takii, Y, Sumi, Y, Loli, Y, Yifat, Y, Shimada, Y, Nabeya, Y, Ide, Y, Wu, Y, Tsukada, Y, Miyamoto, Y, Toiyama, Y, Fujie, Y, Kaneko, Y, Mokutani, Y, Fujii, Y, Kanemitsu, Y, Medkova, Y, Chen, Y, Ruiz, Y, Kinugasa, Y, Sow, Z, Razzaq, Z, Wang, Z, Liu, Z, Han, Z, Tai, Z, Lai, Z, Ng, Z, Dambrauskas, Z, An Y., Bellato V., Konishi T., Pellino G., Sensi B., Siragusa L., Franceschilli M., Sica G. S., Kefleyesus A., Hoofwijk A. G. M., Eldaly A. S., Gonzalez A., Jawad A., Jooma A., Hafez A. M., Rubio A. V., Landaluce-Olavarria A., Wu A., Nagatsu A., Inoue A., Kanamoto A., Ouchi A., El-Hussuna A., Vazquez-Melero A., Wolthuis A. M., Peral A. M., Lozano A. C., Efremov A., Ryasantsev A. V., Di Giorgio A., Parente A., Tamburrini A., Alo A., Forero-Torres A., Vahrmeijer A. L., Varabei A., Hinojosa S., Balkan A. Z. A., Frontali A., Oleg A., Soler-Silva A., Makni A., Andre A., Cabrera A. M. G., Fernandez A. M. G., Minaya-Bravo A. M., Rodriguez-Sanchez A., Musina A. -M., Pangeni A., Zolotko A., Tonoyan A., Balla A., Belli A., Cavallaro A., Chierici A., Divizia A., Bucci A. F., Salido A. J., Morini A., Muratore A., Vignali A., Chitul A., Sebastian D. A., Pcolkins A., Shchegolev A., Hollenbeck A., Wisneski A., Iossa A., D'Amore A., Hunter A., Hesketh A. J., La Brocca A., Spinelli A., Caires A., D'Alessandro A., Correo A. F. S. L., Macri A., Navarro-Sanchez A., Pronk A., Akunc A., Mehri A., Pelta A., Papadopoulos A., Kechagias A., Rashid A., Ramazanov A., Chandio A., Kohyama A., Nishimura A., Ohkawa A., Dulskas A., Jamal A., Mariani A., Unal A. G., Karagoz A., Ozkan B. B., Salih B., Gulcu B., Pessia B., Martin-Perez B., Ielpo B., Tulelli B., Yang B., Mhamed B., Murphy B., Pirozzi B. M., Langenhoff B., Belevi B., Guney B., Ng C., Rueda C., Roxburgh C. S., Feo C. V., Ferrari C., Gazia C., Pratesi C., Ratto C., Santacruz C. C., Arroyave C. R. M., Macias C., Fernandez C. G., Fernandez C. C., Curtis-Martinez C., Fortmann C., Kim C., Galeano C. U., Barroso C., Baldi C., Foppa C., Formisano C., Li C., Ding C., Wang C., Iacusso C., Yang C., Pizzera C., Skias C., Chouliras C., Liakos C., Matsuda C., Wu C. -Y., Ozaslan C., Tanda C., Tommaso C. M., Dagorno C., Ramos C. P. A., Arcudi C., Coco C., Morales C. M., Ali M. Z., Lozano C. C., Sala C., Leo C. A., Scarpa C. R., Ferro C. V., Fernandez C. M., Morales-Garcia D., Nakano D., Cristian D., Hechtl D., Canovas D. T., Calabrese D., Rega D., Ferraro D., Morezzi D., Sommacale D., Brogden D., Miskovic D., Merlini D., Pertile D., Coniglio D., Zhu D., Wu D., Coletta D., Rubio D. R., Sasia D., Fillipov D., Russiello D., Dardanov D., Consten E. C. J., Smolskas E., Muttillo E. M., Jones E., Sunami E., Etienne E. -H., Chalkiadaki E., Giacomelli E., Karbovnichaya E., Ruiz-Ucar E., Guaitoli E., Samadov E., Jovine E., Treppiedi E., Vaterlini E. M., Zambaiti E., Moggia E., Coetzee E., Chisari E., D'Errico E., Ciofic E., Pena E., Kurt E., Balik E., Gunay E., Sivrikoz E., Andolfi E., Araimo E., Lucci E., Opocher E., Pinotti E., Rubino E., Reyhan E., Mazzotta E., Navarro E. B., El-Helou E., Licardie-Bolanos E., Porto E. I., Contreras E., Boerma E. -J., Cianchi F., Marino F., Uggeri F., Han F., Calculli F., Falaschi F., Ghignone F., Perrone F., Borghi F., Garcia F., Agresta F., Cananzi F. C. M., Mendoza-Moreno F., Cengiz F., Almeida F. M., Baracchi F., Carannante F., La Torre F., Fernandes F., Friedmacher F., Grama F., Carissimi F., Pecchini F., Bianco F., Colombo F., Ferrara F., Litta F., Carrano F. M., Martignoni F., Tasselli F. M., Milone F., Pata F., Sammartino F., Zambianchi F., Barragan F., Herrero F., Schlottmann F., Den Boer F. C., Pfeffer F., Fujita F., Navarra G., Herrera-Almario G., Pozzo G., Capolupo G. T., Van Ramshorst G. H., Liscia G., Gallo G., Asawa G., Wang G., Raiyani G., Beets G., Naval G. S., Jin G., Chang G. J., Saakian G., Kahane G., Borroni G., Secco G. L., Baiocchi G. L., Baronio G., Pagano G., Pattacini G. C., Lisi G., Milito G., Sinibaldi G., Serrao G., Bagaglini G., Sarro G., Brisinda G., Candilio G., Mangiameli G., Giuliani G., Martin-Martin G. P., Bodzin G., Leon G., Mackay G., Vasil G., Palmisano G., Giovanna G. M., Fernandez G. C., Steingel G. B., Zhang G., Choi G. S., Chen H., Hirose H., Kayano H., Ulgur H. S., Impellizzeri H., Ariola H., Liu H., Medina H., Miyauchi H., Takahashi H., Hayashi H., Ishikawa H., Ishida H., De Vries H., Ulman H., Kon H., Ota H., Akamatsu H., Tamagawa H., Shoji H., Egi H., Matsubara H., Miki H., Elfeki H., Lin H. -H., Giani I., Caravaca-Garcia I., Takemasa I., Angriman I., Negoi I., Volkova I., Russo I., Kronberger I. E., Shageev I., Aydin I., Mora Guzman I., Novak I., Giuliano I., Rachmuth J., Ngu J. C. -Y., Glasbey J., Stoot J., Zatecky J., Melenhorst J., Van Der Wal J. B. C., Leijtens J., Bogach J., Elliott J., De Wilt J. H. W., Han J., Cui J., Liu J., Khan J., Wirawan J. P., Zhang J., Manyari J. D. O., Doerner J., Bock J., Konsten J., Castro J. M., Grobas J. P., Pereira J., Juloski J., Laina J. L. B., Solorzano J. J., Lopez J. R. 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A., Ninkovic M., Giuffrida M., De Roos M. A. J., Lara M. C., Agustin M. C., Cuadrado M., Pascual M., Lemmerer M., Carlos R., Okamoto M., Miyo M., Inomata M., Ikenaga M., Tsujie M., Yasuno M., Kotake M., Sato M., Yasui M., Lavazza M., Rottoli M., Zuin M., Zuluaga M., Cervellera M., Cesari M., Zizzo M., Garino M., Ghirardi M., Montuori M., Podda M., Santarelli M., Koc M. A., Baini M., Campanelli M., Manigrasso M., Zuolo M., Cunha M. F., Misca M., Slavchev M., Danilov M., Shigaev M., Martens M., Kobayashi M., Ren M., Ishizuka M., Hassan M. M., Siblini M., Sahloul M., Keramati M. R., Karunakaran M., Markel M., Majeed M., Younis M. U., Akin M. I., Laraibe M., Derebey M., Kendirci M., Fukunaga M., Matsubara N., Ordaz N. E. C., Samalavicius N. E., Keeratibharat N., de Angelis N., Gica N., Mariani N. M., Ramino N., Falco N., Smart N., De Korte N., Kok N. F. M., Jamieson N. B., Aberyasev N., Bruklich N., Ichikawa N., Miyoshi N., De Palma N., Figueiredo N., Torrecilla N. O., Dybov O. G., Yudin O., Crepin O., Gomez O., Sert O. Z., Lominchar P. L., Menendez P., De Nardi P., Tejedor P., Jordan P., Tan P., Marsanic P., Natalya P., Banos P. P., Rebasa P., Neary P. M., Tanis P., Giustacchini P., Anoldo P., Concejo P., Cao P., Chandrasinghe P., Abeyratne P., Wang Q., Klicks R. J., Riquelme R. F., Galli R., Gianesini R., Moorjani R. G., Deshpande R. K., Gorter R., Ledesma R. L., Ruslan R., Chhabra R., Talreja-Pelaez R., Suzuki R., Balestri R., Rosati R., Kiblawi R., Martins R., Angelico R., Tutino R., Persiani R., Pollastri R., Lopez R. G., Perez R. O., Hompes R., Lukanin R., Roser Termes Serra R., Brunaccino R., Nakanishi R., Stefan S., Hernandez S. P. S., Di Carlo S., Ingallinella S., Domoto S., Ikeda S., Mikalauskas S., Kim S. H., Mantova S., Barbuta S., Li S., Yamaguchi S., Yamagishi S., Homma S., Tsujinaka S., Yoshioka S., Mori S., Tewari S., Rayman S., Horiuchi S., Matoba S., Morita S., Yaman S., Vigna S., Testa S., Ng S., Deidda S., Cicconi S., Di Maria S., Sibio S., Ersoz S., Pejkova S., Altarifi S., He S., Malakorn S., Meindert S., Sumikawa S., Parmar S., Uranitsch S., D'ugo S., Giuliani S., Breukink S., Lee S. -H., Hata T., Ishikawa T., Akiyoshi T., Azuma T., Kobatake T., Fukuzaki T., Aiyama T., Yamada T., Garmanova T., Gomez-Sanchez T., Yamaguchi T., Flores T. D. J., Usub T., Tsuruma T., Shimizu T., Hristov T. G., Van Loon T., Funakoshi T., Manzia T. M., Kiyomatsu T., Katayama T., Kazuhito U., Elmore U., Grossi U., Truchalev V. A., Rodriguez V. S., Testa V., Tonini V., Celentano V., Bettencourt V., Mammadov V., Leyva V. A. G., Mariscal V. G. O., Seid V. E., Klemann V., Turrado-Rodriguez V., Papagni V., Vento V., Frering V., Vigorita V., Petrove V. V., Lyadov V., Fu W., Mi W., Jeong W. K., Leclercq W. K. G., De Sousa X., Zhao X., Li X., Wang X., Yang X., Zhang X., Dong Y., Erushevich Y., Takii Y., Sumi Y., Loli Y. T., Yifat Y. L., Shimada Y., Nabeya Y., Ide Y., Wu Y., Tsukada Y., Miyamoto Y., Toiyama Y., Fujie Y., Kaneko Y., Mokutani Y., Fujii Y., Kanemitsu Y., Medkova Y., Chen Y., Ruiz Y. G., Kinugasa Y., Sow Z., Razzaq Z., Wang Z., Liu Z., Han Z., Tai Z., Lai Z., Ng Z. Q., Dambrauskas Z., An, Y, Bellato, V, Konishi, T, Pellino, G, Sensi, B, Siragusa, L, Franceschilli, M, Sica, G, Kefleyesus, A, Hoofwijk, A, Eldaly, A, Gonzalez, A, Jawad, A, Jooma, A, Hafez, A, Rubio, A, Landaluce-Olavarria, A, Wu, A, Nagatsu, A, Inoue, A, Kanamoto, A, Ouchi, A, El-Hussuna, A, Vazquez-Melero, A, Wolthuis, A, Peral, A, Lozano, A, Efremov, A, Ryasantsev, A, Di Giorgio, A, Parente, A, Tamburrini, A, Alo, A, Forero-Torres, A, Vahrmeijer, A, Varabei, A, Hinojosa, S, Balkan, A, Frontali, A, Oleg, A, Soler-Silva, A, Makni, A, Andre, A, Cabrera, A, Fernandez, A, Minaya-Bravo, A, Rodriguez-Sanchez, A, Musina, A, Pangeni, A, Zolotko, A, Tonoyan, A, Balla, A, Belli, A, Cavallaro, A, Chierici, A, Divizia, A, Bucci, A, Salido, A, Morini, A, Muratore, A, Vignali, A, Chitul, A, Sebastian, D, Pcolkins, A, Shchegolev, A, Hollenbeck, A, Wisneski, A, Iossa, A, D'Amore, A, Hunter, A, Hesketh, A, La Brocca, A, Spinelli, A, Caires, A, D'Alessandro, A, Correo, A, Macri, A, Navarro-Sanchez, A, Pronk, A, Akunc, A, Mehri, A, Pelta, A, Papadopoulos, A, Kechagias, A, Rashid, A, Ramazanov, A, Chandio, A, Kohyama, A, Nishimura, A, Ohkawa, A, Dulskas, A, Jamal, A, Mariani, A, Unal, A, Karagoz, A, Ozkan, B, Salih, B, Gulcu, B, Pessia, B, Martin-Perez, B, Ielpo, B, Tulelli, B, Yang, B, Mhamed, B, Murphy, B, Pirozzi, B, Langenhoff, B, Belevi, B, Guney, B, Ng, C, Rueda, C, Roxburgh, C, Feo, C, Ferrari, C, Gazia, C, Pratesi, C, Ratto, C, Santacruz, C, Arroyave, C, Macias, C, Fernandez, C, Curtis-Martinez, C, Fortmann, C, Kim, C, Galeano, C, Barroso, C, Baldi, C, Foppa, C, Formisano, C, Li, C, Ding, C, Wang, C, Iacusso, C, Yang, C, Pizzera, C, Skias, C, Chouliras, C, Liakos, C, Matsuda, C, Wu, C, Ozaslan, C, Tanda, C, Tommaso, C, Dagorno, C, Ramos, C, Arcudi, C, Coco, C, Morales, C, Ali, M, Lozano, C, Sala, C, Leo, C, Scarpa, C, Ferro, C, Morales-Garcia, D, Nakano, D, Cristian, D, Hechtl, D, Canovas, D, Calabrese, D, Rega, D, Ferraro, D, Morezzi, D, Sommacale, D, Brogden, D, Miskovic, D, Merlini, D, Pertile, D, Coniglio, D, Zhu, D, Wu, D, Coletta, D, Rubio, D, Sasia, D, Fillipov, D, Russiello, D, Dardanov, D, Consten, E, Smolskas, E, Muttillo, E, Jones, E, Sunami, E, Etienne, E, Chalkiadaki, E, Giacomelli, E, Karbovnichaya, E, Ruiz-Ucar, E, Guaitoli, E, Samadov, E, Jovine, E, Treppiedi, E, Vaterlini, E, Zambaiti, E, Moggia, E, Coetzee, E, Chisari, E, D'Errico, E, Ciofic, E, Pena, E, Kurt, E, Balik, E, Gunay, E, Sivrikoz, E, Andolfi, E, Araimo, E, Lucci, E, Opocher, E, Pinotti, E, Rubino, E, Reyhan, E, Mazzotta, E, Navarro, E, El-Helou, E, Licardie-Bolanos, E, Porto, E, Contreras, E, Boerma, E, Cianchi, F, Marino, F, Uggeri, F, Han, F, Calculli, F, Falaschi, F, Ghignone, F, Perrone, F, Borghi, F, Garcia, F, Agresta, F, Cananzi, F, Mendoza-Moreno, F, Cengiz, F, Almeida, F, Baracchi, F, Carannante, F, La Torre, F, Fernandes, F, Friedmacher, F, Grama, F, Carissimi, F, Pecchini, F, Bianco, F, Colombo, F, Ferrara, F, Litta, F, Carrano, F, Martignoni, F, Tasselli, F, 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Li, S, Yamaguchi, S, Yamagishi, S, Homma, S, Tsujinaka, S, Yoshioka, S, Mori, S, Tewari, S, Rayman, S, Horiuchi, S, Matoba, S, Morita, S, Yaman, S, Vigna, S, Testa, S, Ng, S, Deidda, S, Cicconi, S, Di Maria, S, Sibio, S, Ersoz, S, Pejkova, S, Altarifi, S, He, S, Malakorn, S, Meindert, S, Sumikawa, S, Parmar, S, Uranitsch, S, D'Ugo, S, Giuliani, S, Breukink, S, Lee, S, Hata, T, Ishikawa, T, Akiyoshi, T, Azuma, T, Kobatake, T, Fukuzaki, T, Aiyama, T, Yamada, T, Garmanova, T, Gomez-Sanchez, T, Yamaguchi, T, Flores, T, Usub, T, Tsuruma, T, Shimizu, T, Hristov, T, Van Loon, T, Funakoshi, T, Manzia, T, Kiyomatsu, T, Katayama, T, Kazuhito, U, Elmore, U, Grossi, U, Truchalev, V, Rodriguez, V, Testa, V, Tonini, V, Celentano, V, Bettencourt, V, Mammadov, V, Leyva, V, Mariscal, V, Seid, V, Klemann, V, Turrado-Rodriguez, V, Papagni, V, Vento, V, Frering, V, Vigorita, V, Petrove, V, Lyadov, V, Fu, W, Mi, W, Jeong, W, Leclercq, W, De Sousa, X, Zhao, X, Li, X, Wang, X, Yang, X, Zhang, X, Dong, Y, Erushevich, Y, Takii, Y, Sumi, Y, Loli, Y, Yifat, Y, Shimada, Y, Nabeya, Y, Ide, Y, Wu, Y, Tsukada, Y, Miyamoto, Y, Toiyama, Y, Fujie, Y, Kaneko, Y, Mokutani, Y, Fujii, Y, Kanemitsu, Y, Medkova, Y, Chen, Y, Ruiz, Y, Kinugasa, Y, Sow, Z, Razzaq, Z, Wang, Z, Liu, Z, Han, Z, Tai, Z, Lai, Z, Ng, Z, Dambrauskas, Z, An Y., Bellato V., Konishi T., Pellino G., Sensi B., Siragusa L., Franceschilli M., Sica G. S., Kefleyesus A., Hoofwijk A. G. M., Eldaly A. S., Gonzalez A., Jawad A., Jooma A., Hafez A. M., Rubio A. V., Landaluce-Olavarria A., Wu A., Nagatsu A., Inoue A., Kanamoto A., Ouchi A., El-Hussuna A., Vazquez-Melero A., Wolthuis A. M., Peral A. M., Lozano A. C., Efremov A., Ryasantsev A. V., Di Giorgio A., Parente A., Tamburrini A., Alo A., Forero-Torres A., Vahrmeijer A. L., Varabei A., Hinojosa S., Balkan A. Z. A., Frontali A., Oleg A., Soler-Silva A., Makni A., Andre A., Cabrera A. M. G., Fernandez A. M. G., Minaya-Bravo A. M., Rodriguez-Sanchez A., Musina A. -M., Pangeni A., Zolotko A., Tonoyan A., Balla A., Belli A., Cavallaro A., Chierici A., Divizia A., Bucci A. F., Salido A. J., Morini A., Muratore A., Vignali A., Chitul A., Sebastian D. A., Pcolkins A., Shchegolev A., Hollenbeck A., Wisneski A., Iossa A., D'Amore A., Hunter A., Hesketh A. J., La Brocca A., Spinelli A., Caires A., D'Alessandro A., Correo A. F. S. L., Macri A., Navarro-Sanchez A., Pronk A., Akunc A., Mehri A., Pelta A., Papadopoulos A., Kechagias A., Rashid A., Ramazanov A., Chandio A., Kohyama A., Nishimura A., Ohkawa A., Dulskas A., Jamal A., Mariani A., Unal A. G., Karagoz A., Ozkan B. B., Salih B., Gulcu B., Pessia B., Martin-Perez B., Ielpo B., Tulelli B., Yang B., Mhamed B., Murphy B., Pirozzi B. M., Langenhoff B., Belevi B., Guney B., Ng C., Rueda C., Roxburgh C. S., Feo C. V., Ferrari C., Gazia C., Pratesi C., Ratto C., Santacruz C. C., Arroyave C. R. M., Macias C., Fernandez C. G., Fernandez C. C., Curtis-Martinez C., Fortmann C., Kim C., Galeano C. U., Barroso C., Baldi C., Foppa C., Formisano C., Li C., Ding C., Wang C., Iacusso C., Yang C., Pizzera C., Skias C., Chouliras C., Liakos C., Matsuda C., Wu C. -Y., Ozaslan C., Tanda C., Tommaso C. M., Dagorno C., Ramos C. P. A., Arcudi C., Coco C., Morales C. M., Ali M. Z., Lozano C. C., Sala C., Leo C. A., Scarpa C. R., Ferro C. V., Fernandez C. M., Morales-Garcia D., Nakano D., Cristian D., Hechtl D., Canovas D. T., Calabrese D., Rega D., Ferraro D., Morezzi D., Sommacale D., Brogden D., Miskovic D., Merlini D., Pertile D., Coniglio D., Zhu D., Wu D., Coletta D., Rubio D. R., Sasia D., Fillipov D., Russiello D., Dardanov D., Consten E. C. J., Smolskas E., Muttillo E. M., Jones E., Sunami E., Etienne E. -H., Chalkiadaki E., Giacomelli E., Karbovnichaya E., Ruiz-Ucar E., Guaitoli E., Samadov E., Jovine E., Treppiedi E., Vaterlini E. M., Zambaiti E., Moggia E., Coetzee E., Chisari E., D'Errico E., Ciofic E., Pena E., Kurt E., Balik E., Gunay E., Sivrikoz E., Andolfi E., Araimo E., Lucci E., Opocher E., Pinotti E., Rubino E., Reyhan E., Mazzotta E., Navarro E. B., El-Helou E., Licardie-Bolanos E., Porto E. I., Contreras E., Boerma E. -J., Cianchi F., Marino F., Uggeri F., Han F., Calculli F., Falaschi F., Ghignone F., Perrone F., Borghi F., Garcia F., Agresta F., Cananzi F. C. M., Mendoza-Moreno F., Cengiz F., Almeida F. M., Baracchi F., Carannante F., La Torre F., Fernandes F., Friedmacher F., Grama F., Carissimi F., Pecchini F., Bianco F., Colombo F., Ferrara F., Litta F., Carrano F. M., Martignoni F., Tasselli F. M., Milone F., Pata F., Sammartino F., Zambianchi F., Barragan F., Herrero F., Schlottmann F., Den Boer F. C., Pfeffer F., Fujita F., Navarra G., Herrera-Almario G., Pozzo G., Capolupo G. T., Van Ramshorst G. H., Liscia G., Gallo G., Asawa G., Wang G., Raiyani G., Beets G., Naval G. S., Jin G., Chang G. J., Saakian G., Kahane G., Borroni G., Secco G. L., Baiocchi G. L., Baronio G., Pagano G., Pattacini G. C., Lisi G., Milito G., Sinibaldi G., Serrao G., Bagaglini G., Sarro G., Brisinda G., Candilio G., Mangiameli G., Giuliani G., Martin-Martin G. P., Bodzin G., Leon G., Mackay G., Vasil G., Palmisano G., Giovanna G. M., Fernandez G. C., Steingel G. B., Zhang G., Choi G. S., Chen H., Hirose H., Kayano H., Ulgur H. S., Impellizzeri H., Ariola H., Liu H., Medina H., Miyauchi H., Takahashi H., Hayashi H., Ishikawa H., Ishida H., De Vries H., Ulman H., Kon H., Ota H., Akamatsu H., Tamagawa H., Shoji H., Egi H., Matsubara H., Miki H., Elfeki H., Lin H. -H., Giani I., Caravaca-Garcia I., Takemasa I., Angriman I., Negoi I., Volkova I., Russo I., Kronberger I. E., Shageev I., Aydin I., Mora Guzman I., Novak I., Giuliano I., Rachmuth J., Ngu J. C. -Y., Glasbey J., Stoot J., Zatecky J., Melenhorst J., Van Der Wal J. B. C., Leijtens J., Bogach J., Elliott J., De Wilt J. H. W., Han J., Cui J., Liu J., Khan J., Wirawan J. P., Zhang J., Manyari J. D. O., Doerner J., Bock J., Konsten J., Castro J. M., Grobas J. P., Pereira J., Juloski J., Laina J. L. B., Solorzano J. J., Lopez J. R. G., Li J., Watanabe J., Kwak J. -M., Hasegawa J., Hiro J., Sergey K., Zhang K., Nagahori K., Martinez K., Tokuhara K., Danno K., Uehara K., Yoshimatsu K., Ehara K., Ueda K., Suda K., Yamamoto K., Ishimaru K., Kimura K., Hirata K., Deen K., Imaizumi K., Yamada J., Tanakura K., Rida K., Sugimoto K., Kotaro K., Shi K., Okabayashi K., Hida K., Kataoka K., Hongo K., Xia K., Tseng L., Reime L., Lorenzon L., Ruano L. M., Zhou L., De Nes L., Brandariz L., Morini L., Petagna L., Ripamonti L., Martinez L. H., Pio L., Sacco L., Carvalho L., Zorcolo L., Perez-Sanchez L. E., Esparza L. H. R., Aguilar L. T., Garner M., Sugimoto M., Nagashima M., Shiozawa M., Simone M., Ferrer-Marquez M., Carvalho M., Alifano M., Arganini M., Calussi M., Catarci M., Allaix M. E., Forlin M., Milone M., Paci M., Fodor M., Antipova M., Martos M. B., Giuffrida M. C., Tabernilla M. D., Quiros M. J. A., Lemma M., Correo M. L. R. D., Malowiecka M., Bellomo M. P., Fernandez M. R., Socias M., Rizk M., Aurora M., Antolinez M. A., Ninkovic M., Giuffrida M., De Roos M. A. J., Lara M. C., Agustin M. C., Cuadrado M., Pascual M., Lemmerer M., Carlos R., Okamoto M., Miyo M., Inomata M., Ikenaga M., Tsujie M., Yasuno M., Kotake M., Sato M., Yasui M., Lavazza M., Rottoli M., Zuin M., Zuluaga M., Cervellera M., Cesari M., Zizzo M., Garino M., Ghirardi M., Montuori M., Podda M., Santarelli M., Koc M. A., Baini M., Campanelli M., Manigrasso M., Zuolo M., Cunha M. F., Misca M., Slavchev M., Danilov M., Shigaev M., Martens M., Kobayashi M., Ren M., Ishizuka M., Hassan M. M., Siblini M., Sahloul M., Keramati M. R., Karunakaran M., Markel M., Majeed M., Younis M. U., Akin M. I., Laraibe M., Derebey M., Kendirci M., Fukunaga M., Matsubara N., Ordaz N. E. C., Samalavicius N. E., Keeratibharat N., de Angelis N., Gica N., Mariani N. M., Ramino N., Falco N., Smart N., De Korte N., Kok N. F. M., Jamieson N. B., Aberyasev N., Bruklich N., Ichikawa N., Miyoshi N., De Palma N., Figueiredo N., Torrecilla N. O., Dybov O. G., Yudin O., Crepin O., Gomez O., Sert O. Z., Lominchar P. L., Menendez P., De Nardi P., Tejedor P., Jordan P., Tan P., Marsanic P., Natalya P., Banos P. P., Rebasa P., Neary P. M., Tanis P., Giustacchini P., Anoldo P., Concejo P., Cao P., Chandrasinghe P., Abeyratne P., Wang Q., Klicks R. J., Riquelme R. F., Galli R., Gianesini R., Moorjani R. G., Deshpande R. K., Gorter R., Ledesma R. L., Ruslan R., Chhabra R., Talreja-Pelaez R., Suzuki R., Balestri R., Rosati R., Kiblawi R., Martins R., Angelico R., Tutino R., Persiani R., Pollastri R., Lopez R. G., Perez R. O., Hompes R., Lukanin R., Roser Termes Serra R., Brunaccino R., Nakanishi R., Stefan S., Hernandez S. P. S., Di Carlo S., Ingallinella S., Domoto S., Ikeda S., Mikalauskas S., Kim S. H., Mantova S., Barbuta S., Li S., Yamaguchi S., Yamagishi S., Homma S., Tsujinaka S., Yoshioka S., Mori S., Tewari S., Rayman S., Horiuchi S., Matoba S., Morita S., Yaman S., Vigna S., Testa S., Ng S., Deidda S., Cicconi S., Di Maria S., Sibio S., Ersoz S., Pejkova S., Altarifi S., He S., Malakorn S., Meindert S., Sumikawa S., Parmar S., Uranitsch S., D'ugo S., Giuliani S., Breukink S., Lee S. -H., Hata T., Ishikawa T., Akiyoshi T., Azuma T., Kobatake T., Fukuzaki T., Aiyama T., Yamada T., Garmanova T., Gomez-Sanchez T., Yamaguchi T., Flores T. D. J., Usub T., Tsuruma T., Shimizu T., Hristov T. G., Van Loon T., Funakoshi T., Manzia T. M., Kiyomatsu T., Katayama T., Kazuhito U., Elmore U., Grossi U., Truchalev V. A., Rodriguez V. S., Testa V., Tonini V., Celentano V., Bettencourt V., Mammadov V., Leyva V. A. G., Mariscal V. G. O., Seid V. E., Klemann V., Turrado-Rodriguez V., Papagni V., Vento V., Frering V., Vigorita V., Petrove V. V., Lyadov V., Fu W., Mi W., Jeong W. K., Leclercq W. K. G., De Sousa X., Zhao X., Li X., Wang X., Yang X., Zhang X., Dong Y., Erushevich Y., Takii Y., Sumi Y., Loli Y. T., Yifat Y. L., Shimada Y., Nabeya Y., Ide Y., Wu Y., Tsukada Y., Miyamoto Y., Toiyama Y., Fujie Y., Kaneko Y., Mokutani Y., Fujii Y., Kanemitsu Y., Medkova Y., Chen Y., Ruiz Y. G., Kinugasa Y., Sow Z., Razzaq Z., Wang Z., Liu Z., Han Z., Tai Z., Lai Z., Ng Z. Q., and Dambrauskas Z.
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- 2020
5. Enhancing work hardening and ductility in additively manufactured beta Ti: roles played by grain orientation, morphology and substructure
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Zafari, A, Lui, EWC, Li, M, Xia, K, Zafari, A, Lui, EWC, Li, M, and Xia, K
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- 2022
6. HyperViTGAN: Semisupervised Generative Adversarial Network With Transformer for Hyperspectral Image Classification
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He, Z., Xia, K., (0000-0003-1203-741X) Ghamisi, P., Hu, Y., Fan, S., Zu, B., He, Z., Xia, K., (0000-0003-1203-741X) Ghamisi, P., Hu, Y., Fan, S., and Zu, B.
- Abstract
Generative adversarial networks (GANs) have achieved many excellent results in hyperspectral image (HSI) classification in recent years, as GANs can effectively solve the dilemma of limited training samples in HSI classification. However, due to the class imbalance problem of HSI data, GANs always associate minority-class samples with fake label. To address this issue, we first propose a semisupervised generative adversarial network incorporating a transformer, called HyperViTGAN. The proposed HyperViTGAN is designed with an external semisupervised classifier to avoid self-contradiction when the discriminator performs both classification and discrimination tasks. The generator and discriminator with skip connection are utilized to generate HSI patches by adversarial learning. The proposed HyperViTGAN captures semantic context and low-level textures to reduce the loss of critical information. In addition, the generalization ability of the HyperViTGAN is improved through the use of data augmentation. Experimental results on three well-known HSI datasets, Houston 2013, Indian Pines 2010, and Xuzhou, show that the proposed model achieves competitive HSI classification performance in comparison with the current state-of-the-art classification models.
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- 2022
7. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, Vissers, L.E.L.M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C.A., Bhat, G., Cobian, K., Bird, L.M., Friedman, J., Wright, M.S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C.K., White, K.M., Elpeleg, O., Berger, I., Espineli, E.J., Fagerberg, C., Brasch-Andersen, C., Hansen, L.K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L.M., McKee, S., Mirzaa, G.M., Muss, C., Pappas, J., Peeters, H, Romano, C, Elia, M., Galesi, O., Simon, M.E., Gassen, K.L.I. van, Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I.V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R.K., Nowakowski, T., Bernier, R.A., Eichler, E.E., Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, Vissers, L.E.L.M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C.A., Bhat, G., Cobian, K., Bird, L.M., Friedman, J., Wright, M.S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C.K., White, K.M., Elpeleg, O., Berger, I., Espineli, E.J., Fagerberg, C., Brasch-Andersen, C., Hansen, L.K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L.M., McKee, S., Mirzaa, G.M., Muss, C., Pappas, J., Peeters, H, Romano, C, Elia, M., Galesi, O., Simon, M.E., Gassen, K.L.I. van, Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I.V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R.K., Nowakowski, T., Bernier, R.A., and Eichler, E.E.
- Abstract
Contains fulltext : 245103.pdf (Publisher’s version ) (Open Access), BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. METHODS: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. RESULTS: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare va
- Published
- 2021
8. Nano/ultrafine grained immiscible Fe-Cu alloy with ultrahigh strength produced by selective laser melting
- Author
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Zafari, A, Xia, K, Zafari, A, and Xia, K
- Published
- 2021
9. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
- Author
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Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, Vissers, L.E.L.M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C.A., Bhat, G., Cobian, K., Bird, L.M., Friedman, J., Wright, M.S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C.K., White, K.M., Elpeleg, O., Berger, I., Espineli, E.J., Fagerberg, C., Brasch-Andersen, C., Hansen, L.K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L.M., McKee, S., Mirzaa, G.M., Muss, C., Pappas, J., Peeters, H, Romano, C, Elia, M., Galesi, O., Simon, M.E., Gassen, K.L.I. van, Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I.V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R.K., Nowakowski, T., Bernier, R.A., Eichler, E.E., Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, Vissers, L.E.L.M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C.A., Bhat, G., Cobian, K., Bird, L.M., Friedman, J., Wright, M.S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C.K., White, K.M., Elpeleg, O., Berger, I., Espineli, E.J., Fagerberg, C., Brasch-Andersen, C., Hansen, L.K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L.M., McKee, S., Mirzaa, G.M., Muss, C., Pappas, J., Peeters, H, Romano, C, Elia, M., Galesi, O., Simon, M.E., Gassen, K.L.I. van, Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I.V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R.K., Nowakowski, T., Bernier, R.A., and Eichler, E.E.
- Abstract
Contains fulltext : 245103.pdf (Publisher’s version ) (Open Access), BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. METHODS: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. RESULTS: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare va
- Published
- 2021
10. Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
- Author
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Granadillo, Jorge Luis, P.A. Stegmann, Alexander, Guo, Hui, Xia, K., Angle, Brad, Bontempo, Kelly, Pfundt, R.P., Rosenfeld, J.A., Shinawi, M., Granadillo, Jorge Luis, P.A. Stegmann, Alexander, Guo, Hui, Xia, K., Angle, Brad, Bontempo, Kelly, Pfundt, R.P., Rosenfeld, J.A., and Shinawi, M.
- Abstract
Contains fulltext : 226271.pdf (Publisher’s version ) (Closed access)
- Published
- 2020
11. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- Author
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Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., Eichler, E.E., Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., and Eichler, E.E.
- Abstract
Contains fulltext : 229260.pdf (publisher's version ) (Open Access), Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
- Published
- 2020
12. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
- Author
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Mirzaa, G.M., Chong, J.X., Piton, A., Popp, B., Foss, K., Guo, Hui, Harripaul, R., Xia, K., Scheck, J., Aldinger, K.A., Sajan, S.A., Tang, S., Bonneau, D., Beck, A., White, J., Mahida, S., Harris, J., Smith-Hicks, C., Hoyer, J., Zweier, C., Reis, A., Thiel, C.T., Jamra, R.A., Zeid, N., Yang, A., Farach, L.S., Walsh, L., Payne, K., Rohena, L., Velinov, M., Ziegler, A., Schaefer, E., Gatinois, V., Genevieve, D., Simon, M.E., Kohler, J., Rotenberg, J., Wheeler, P., Larson, A., Ernst, M.E., Akman, C.I., Westman, R., Blanchet, P., Schillaci, L.A., Vincent-Delorme, C., Gripp, K.W., Mattioli, F., Guyader, G.L., Gerard, B., Mathieu-Dramard, M., Morin, G., Sasanfar, R., Ayub, M., Vasli, N., Yang, S., Person, R., Monaghan, K.G., Nickerson, D.A., Binsbergen, E. van, Enns, G.M., Dries, A.M., Rowe, L.J., Tsai, A.C., Svihovec, S., Friedman, J., Agha, Z., Qamar, R., Rodan, L.H., Martinez-Agosto, J., Ockeloen, C.W., Vincent, M., Sunderland, W.J., Bernstein, J.A., Eichler, E.E., Vincent, J.B., Bamshad, M.J., Mirzaa, G.M., Chong, J.X., Piton, A., Popp, B., Foss, K., Guo, Hui, Harripaul, R., Xia, K., Scheck, J., Aldinger, K.A., Sajan, S.A., Tang, S., Bonneau, D., Beck, A., White, J., Mahida, S., Harris, J., Smith-Hicks, C., Hoyer, J., Zweier, C., Reis, A., Thiel, C.T., Jamra, R.A., Zeid, N., Yang, A., Farach, L.S., Walsh, L., Payne, K., Rohena, L., Velinov, M., Ziegler, A., Schaefer, E., Gatinois, V., Genevieve, D., Simon, M.E., Kohler, J., Rotenberg, J., Wheeler, P., Larson, A., Ernst, M.E., Akman, C.I., Westman, R., Blanchet, P., Schillaci, L.A., Vincent-Delorme, C., Gripp, K.W., Mattioli, F., Guyader, G.L., Gerard, B., Mathieu-Dramard, M., Morin, G., Sasanfar, R., Ayub, M., Vasli, N., Yang, S., Person, R., Monaghan, K.G., Nickerson, D.A., Binsbergen, E. van, Enns, G.M., Dries, A.M., Rowe, L.J., Tsai, A.C., Svihovec, S., Friedman, J., Agha, Z., Qamar, R., Rodan, L.H., Martinez-Agosto, J., Ockeloen, C.W., Vincent, M., Sunderland, W.J., Bernstein, J.A., Eichler, E.E., Vincent, J.B., and Bamshad, M.J.
- Abstract
Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access), PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). METHODS: We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the canonical phenotype and examine genotype-phenotype relationships. RESULTS: Probands presented with ID as well as a spectrum of neurodevelopmental features including ASD, among others. All ZNF292 variants were de novo, except in one family with dominant inheritance. ZNF292 encodes a highly conserved zinc finger protein that acts as a transcription factor and is highly expressed in the developing human brain supporting its critical role in neurodevelopment. CONCLUSION: De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD.
- Published
- 2020
13. A Roadmap for the Development of Ivermectin as a Complementary Malaria Vector Control Tool
- Author
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The Ivermectin Roadmappers, Billingsley, P, Binka, F, Chaccour, C, Foy, B, Gold, S, Gonzalez-Silva, M, Jacobson, J, Jagoe, G, Jones, C, Kachur, P, Kobylinski, K, Last, A, Lavery, JV, Mabey, D, Mboera, D, Mbogo, C, Mendez-Lopez, A, Rabinovich, NR, Rees, S, Richards, F, Rist, C, Rockwood, J, Ruiz-Castillo, P, Sattabongkot, J, Saute, F, Slater, H, Steer, A, Xia, K, Zullinger, R, The Ivermectin Roadmappers, Billingsley, P, Binka, F, Chaccour, C, Foy, B, Gold, S, Gonzalez-Silva, M, Jacobson, J, Jagoe, G, Jones, C, Kachur, P, Kobylinski, K, Last, A, Lavery, JV, Mabey, D, Mboera, D, Mbogo, C, Mendez-Lopez, A, Rabinovich, NR, Rees, S, Richards, F, Rist, C, Rockwood, J, Ruiz-Castillo, P, Sattabongkot, J, Saute, F, Slater, H, Steer, A, Xia, K, and Zullinger, R
- Abstract
In the context of stalling progress against malaria, resistance of mosquitoes to insecticides, and residual transmission, mass drug administration (MDA) of ivermectin, an endectocide used for neglected tropical diseases (NTDs), has emerged as a promising complementary vector control method. Ivermectin reduces the life span of Anopheles mosquitoes that feed on treated humans and/or livestock, potentially decreasing malaria parasite transmission when administered at the community level. Following the publication by WHO of the preferred product characteristics for endectocides as vector control tools, this roadmap provides a comprehensive view of processes needed to make ivermectin available as a vector control tool by 2024 with a completely novel mechanism of action. The roadmap covers various aspects, which include 1) the definition of optimal dosage/regimens for ivermectin MDA in both humans and livestock, 2) the risk of resistance to the drug and environmental impact, 3) ethical issues, 4) political and community engagement, 5) translation of evidence into policy, and 6) operational aspects of large-scale deployment of the drug, all in the context of a drug given as a prevention tool acting at the community level. The roadmap reflects the insights of a multidisciplinary group of global health experts who worked together to elucidate the path to inclusion of ivermectin in the toolbox against malaria, to address residual transmission, counteract insecticide resistance, and contribute to the end of this deadly disease.
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- 2020
14. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)
- Author
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Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE, Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, and Eichler, EE
- Abstract
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
- Published
- 2020
15. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- Author
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Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Dalla Bernardina, B, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE, Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Dalla Bernardina, B, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, and Eichler, EE
- Abstract
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
- Published
- 2020
16. Biocomposites Produced from Hardwood Particles by Equal Channel Angular Pressing: Effects of Pre-Treatment
- Author
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Bai, Y, Zhang, X, Xia, K, Bai, Y, Zhang, X, and Xia, K
- Abstract
The benefit of using a combination of alkali pre-treatment and ball milling in processing hardwood particles into biocomposites via equal channel angular pressing (ECAP) was demonstrated. The penetration of bonding additives (polyethyleneimine and tannic acid) into hardwood structures was enhanced by the pre-treatment, resulting in plasticization and cross-linking derived from the additives during the particle processing. A significant improvement in the biocomposites’ mechanical properties was obtained, reaching flexural strength of 28–29 MPa and flexural modulus of 3650 MPa, comparable to those displayed by commercial wood fiberboard using thermosetting resins as the binding agent. This adds to the promise of developing biocomposites from industrial or agricultural waste through the simple and efficient ECAP technology in conjunction with common pre-treatment methodologies for wood particles.
- Published
- 2020
17. Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
- Author
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Granadillo, Jorge Luis, P.A. Stegmann, Alexander, Guo, Hui, Xia, K., Angle, Brad, Bontempo, Kelly, Pfundt, R.P., Rosenfeld, J.A., Shinawi, M., Granadillo, Jorge Luis, P.A. Stegmann, Alexander, Guo, Hui, Xia, K., Angle, Brad, Bontempo, Kelly, Pfundt, R.P., Rosenfeld, J.A., and Shinawi, M.
- Abstract
Contains fulltext : 226271.pdf (Publisher’s version ) (Closed access)
- Published
- 2020
18. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- Author
-
Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., Eichler, E.E., Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., and Eichler, E.E.
- Abstract
Contains fulltext : 229260.pdf (publisher's version ) (Open Access), Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
- Published
- 2020
19. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
- Author
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Mirzaa, G.M., Chong, J.X., Piton, A., Popp, B., Foss, K., Guo, Hui, Harripaul, R., Xia, K., Scheck, J., Aldinger, K.A., Sajan, S.A., Tang, S., Bonneau, D., Beck, A., White, J., Mahida, S., Harris, J., Smith-Hicks, C., Hoyer, J., Zweier, C., Reis, A., Thiel, C.T., Jamra, R.A., Zeid, N., Yang, A., Farach, L.S., Walsh, L., Payne, K., Rohena, L., Velinov, M., Ziegler, A., Schaefer, E., Gatinois, V., Genevieve, D., Simon, M.E., Kohler, J., Rotenberg, J., Wheeler, P., Larson, A., Ernst, M.E., Akman, C.I., Westman, R., Blanchet, P., Schillaci, L.A., Vincent-Delorme, C., Gripp, K.W., Mattioli, F., Guyader, G.L., Gerard, B., Mathieu-Dramard, M., Morin, G., Sasanfar, R., Ayub, M., Vasli, N., Yang, S., Person, R., Monaghan, K.G., Nickerson, D.A., Binsbergen, E. van, Enns, G.M., Dries, A.M., Rowe, L.J., Tsai, A.C., Svihovec, S., Friedman, J., Agha, Z., Qamar, R., Rodan, L.H., Martinez-Agosto, J., Ockeloen, C.W., Vincent, M., Sunderland, W.J., Bernstein, J.A., Eichler, E.E., Vincent, J.B., Bamshad, M.J., Mirzaa, G.M., Chong, J.X., Piton, A., Popp, B., Foss, K., Guo, Hui, Harripaul, R., Xia, K., Scheck, J., Aldinger, K.A., Sajan, S.A., Tang, S., Bonneau, D., Beck, A., White, J., Mahida, S., Harris, J., Smith-Hicks, C., Hoyer, J., Zweier, C., Reis, A., Thiel, C.T., Jamra, R.A., Zeid, N., Yang, A., Farach, L.S., Walsh, L., Payne, K., Rohena, L., Velinov, M., Ziegler, A., Schaefer, E., Gatinois, V., Genevieve, D., Simon, M.E., Kohler, J., Rotenberg, J., Wheeler, P., Larson, A., Ernst, M.E., Akman, C.I., Westman, R., Blanchet, P., Schillaci, L.A., Vincent-Delorme, C., Gripp, K.W., Mattioli, F., Guyader, G.L., Gerard, B., Mathieu-Dramard, M., Morin, G., Sasanfar, R., Ayub, M., Vasli, N., Yang, S., Person, R., Monaghan, K.G., Nickerson, D.A., Binsbergen, E. van, Enns, G.M., Dries, A.M., Rowe, L.J., Tsai, A.C., Svihovec, S., Friedman, J., Agha, Z., Qamar, R., Rodan, L.H., Martinez-Agosto, J., Ockeloen, C.W., Vincent, M., Sunderland, W.J., Bernstein, J.A., Eichler, E.E., Vincent, J.B., and Bamshad, M.J.
- Abstract
Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access), PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). METHODS: We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the canonical phenotype and examine genotype-phenotype relationships. RESULTS: Probands presented with ID as well as a spectrum of neurodevelopmental features including ASD, among others. All ZNF292 variants were de novo, except in one family with dominant inheritance. ZNF292 encodes a highly conserved zinc finger protein that acts as a transcription factor and is highly expressed in the developing human brain supporting its critical role in neurodevelopment. CONCLUSION: De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD.
- Published
- 2020
20. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
- Author
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Mirzaa, G.M., Chong, J.X., Piton, A., Popp, B., Foss, K., Guo, Hui, Harripaul, R., Xia, K., Scheck, J., Aldinger, K.A., Sajan, S.A., Tang, S., Bonneau, D., Beck, A., White, J., Mahida, S., Harris, J., Smith-Hicks, C., Hoyer, J., Zweier, C., Reis, A., Thiel, C.T., Jamra, R.A., Zeid, N., Yang, A., Farach, L.S., Walsh, L., Payne, K., Rohena, L., Velinov, M., Ziegler, A., Schaefer, E., Gatinois, V., Genevieve, D., Simon, M.E., Kohler, J., Rotenberg, J., Wheeler, P., Larson, A., Ernst, M.E., Akman, C.I., Westman, R., Blanchet, P., Schillaci, L.A., Vincent-Delorme, C., Gripp, K.W., Mattioli, F., Guyader, G.L., Gerard, B., Mathieu-Dramard, M., Morin, G., Sasanfar, R., Ayub, M., Vasli, N., Yang, S., Person, R., Monaghan, K.G., Nickerson, D.A., Binsbergen, E. van, Enns, G.M., Dries, A.M., Rowe, L.J., Tsai, A.C., Svihovec, S., Friedman, J., Agha, Z., Qamar, R., Rodan, L.H., Martinez-Agosto, J., Ockeloen, C.W., Vincent, M., Sunderland, W.J., Bernstein, J.A., Eichler, E.E., Vincent, J.B., Bamshad, M.J., Mirzaa, G.M., Chong, J.X., Piton, A., Popp, B., Foss, K., Guo, Hui, Harripaul, R., Xia, K., Scheck, J., Aldinger, K.A., Sajan, S.A., Tang, S., Bonneau, D., Beck, A., White, J., Mahida, S., Harris, J., Smith-Hicks, C., Hoyer, J., Zweier, C., Reis, A., Thiel, C.T., Jamra, R.A., Zeid, N., Yang, A., Farach, L.S., Walsh, L., Payne, K., Rohena, L., Velinov, M., Ziegler, A., Schaefer, E., Gatinois, V., Genevieve, D., Simon, M.E., Kohler, J., Rotenberg, J., Wheeler, P., Larson, A., Ernst, M.E., Akman, C.I., Westman, R., Blanchet, P., Schillaci, L.A., Vincent-Delorme, C., Gripp, K.W., Mattioli, F., Guyader, G.L., Gerard, B., Mathieu-Dramard, M., Morin, G., Sasanfar, R., Ayub, M., Vasli, N., Yang, S., Person, R., Monaghan, K.G., Nickerson, D.A., Binsbergen, E. van, Enns, G.M., Dries, A.M., Rowe, L.J., Tsai, A.C., Svihovec, S., Friedman, J., Agha, Z., Qamar, R., Rodan, L.H., Martinez-Agosto, J., Ockeloen, C.W., Vincent, M., Sunderland, W.J., Bernstein, J.A., Eichler, E.E., Vincent, J.B., and Bamshad, M.J.
- Abstract
Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access), PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). METHODS: We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the canonical phenotype and examine genotype-phenotype relationships. RESULTS: Probands presented with ID as well as a spectrum of neurodevelopmental features including ASD, among others. All ZNF292 variants were de novo, except in one family with dominant inheritance. ZNF292 encodes a highly conserved zinc finger protein that acts as a transcription factor and is highly expressed in the developing human brain supporting its critical role in neurodevelopment. CONCLUSION: De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD.
- Published
- 2020
21. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
- Author
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Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., Eichler, E.E., Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B.P., Gillentine, M.A., Wilfert, A.B., Perez-Jurado, L.A., Kvarnung, M., Sleyp, Y., Earl, R.K., Rosenfeld, J.A., Geisheker, M.R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E.E., Zou, X., Ou, J., Li, H., Guo, H, Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B.M., Vandeweyer, G., Dijck, A. Van, Aa, N. van der, McKenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B.D., Muglia, P., Haeringen, A. van, Hoffer, M.J.V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P.J., Manning, M.A., Liu, P, Scheffer, I.E., Brunetti-Pierri, N., Rommelse, N.N.J., Amaral, D.G., Santen, G.W.E., Trabetti, E., Sedláček, Z., Michaelson, J.J., Pierce, K., Courchesne, E., Kooy, R.F., Nordenskjöld, M., Romano, C, Peeters, H, Bernier, R.A., Gecz, J., Xia, K., and Eichler, E.E.
- Abstract
Contains fulltext : 229260.pdf (publisher's version ) (Open Access), Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of which reach family-wise error rate (FWER) significance (p < 1.25E-06). Among these 125 targeted genes, we also reevaluate DNM excess in 17,426 NDD trios with 6,499 new autism trios. We identify 90 genes enriched for DNMs (FDR 5%; e.g., GABRG2 and UIMC1); of which, 61 reach FWER significance (p < 3.64E-07; e.g., CASZ1). In addition to doubling the number of patients for many NDD risk genes, we present phenotype-genotype correlations for seven risk genes (CTCF, HNRNPU, KCNQ3, ZBTB18, TCF12, SPEN, and LEO1) based on this large-scale targeted sequencing effort.
- Published
- 2020
22. Screening policies, preventive measures and in-hospital infection of COVID-19 in global surgical practices
- Author
-
Bellato, V., Konishi, T., Pellino, G., An, Y., Piciocchi, A., Sensi, B., Siragusa, L., Khanna, K., Pirozzi, B. M., Franceschilli, M., Campanelli, M., Efetov, S., Sica, G. S., Ratto, Carlo, Kefleyesus, A., Hoofwijk, A. G. M., Eldaly, A. S., Gonzalez, A., Jawad, A., Jooma, A., Hafez, A. M., Rubio, A. V., Landaluce-Olavarria, A., Wu, A., Nagatsu, A., Inoue, A., Kanamoto, A., Ouchi, A., El-Hussuna, A., Vazquez-Melero, A., Wolthuis, A. M., Peral, A. M., Lozano, A. C., Efremov, A., Ryasantsev, A. V., Di Giorgio, A., Parente, A., Tamburrini, A., Alo, A., Forero-Torres, A., Vahrmeijer, A. L., Varabei, A., Hinojosa, S., Zeynel, A., Balkan, A., Frontali, A., Oleg, A., Soler-Silva, A., Makni, A., Andre, A., Cabrera, A. M. G., Fernandez, A. M. G., Minaya-Bravo, A. M., Rodriguez-Sanchez, A., Musina, A. -M., Pangeni, A., Zolotko, A., Tonoyan, A., Balla, A., Belli, A., Cavallaro, A., Chierici, A., Divizia, A., Bucci, A. F., Salido, A. J., Morini, A., Muratore, A., Vignali, A., Chitul, A., Sebastian, D. A., Pcolkins, A., Shchegolev, A., Hollenbeck, A., Wisneski, A., Iossa, A., D'Amore, A., Hunter, A., Hesketh, A. J., la Brocca, A., Spinelli, A., Caires, A., D'Alessandro, A., Correo, A. F. S. L., Macri, A., Navarro-Sanchez, A., Pronk, A., Akunc, A., Mehri, A., Pelta, A., Papadopoulos, A., Kechagias, A., Rashid, A., Ramazanov, A., Chandio, A., Kohyama, A., Nishimura, A., Ohkawa, A., Dulskas, A., Jamal, A., Mariani, A., Unal, A. G., Karagoz, A., Ozkan, B. B., Salih, B., Gulcu, B., Pessia, B., Martin-Perez, B., Ielpo, B., Tulelli, B., Yang, B., Mhamed, B., Murphy, B., Langenhoff, B., Belevi, B., Guney, B., Ng, C., Rueda, C., Roxburgh, C. S., Feo, C. V., Ferrari, C., Gazia, C., Pratesi, C., Ratto, C., Santacruz, C. C., Arroyave, C. R. M., Macias, C., Fernandez, C. G., Fernandez, C. C., Curtis-Martinez, C., Fortmann, C., Kim, C., Galeano, C. U., Barroso, C., Baldi, C., Foppa, C., Formisano, C., Li, C., Ding, C., Wang, C., Iacusso, C., Yang, C., Pizzera, C., Skias, C., Chouliras, C., Liakos, C., Matsuda, C., Wu, C. -Y., Ozaslan, C., Tanda, C., Tommaso, C. M., Dagorno, C., Ramos, C. P. A., Arcudi, C., Coco, C., Morales, C. M., Ali, M. Z., de Azevedo, C. T. M., Lozano, C. C., Sala, C., Leo, C. A., Scarpa, C. R., Ferro, C. V., Fernandez, C. M., Morales-Garcia, D., Nakano, D., Cristian, D., Hechtl, D., Canovas, D. T., Calabrese, D., Rega, D., Ferraro, D., Morezzi, D., Sommacale, D., Brogden, D., Miskovic, D., Merlini, D., Pertile, D., Coniglio, D., Zhu, D., Wu, D., Coletta, D., Rubio, D. R., Sasia, D., Fillipov, D., Russiello, D., Dardanov, D., Consten, E. C. J., Smolskas, E., Muttillo, E. M., Jones, E., Sunami, E., Etienne, E. -H., Chalkiadaki, E., Giacomelli, E., Karbovnichaya, E., Ruiz-Ucar, E., Guaitoli, E., Samadov, E., Jovine, E., Treppiedi, E., Vaterlini, E. M., Zambaiti, E., Moggia, E., Coetzee, E., Chisari, E., D'Errico, E., Ciofic, E., Pena, E., Kurt, E., Balik, E., Gunay, E., Sivrikoz, E., Andolfi, E., Araimo, E., Lucci, E., Opocher, E., Pinotti, E., Rubino, E., Reyhan, E., Mazzotta, E., Navarro, E. B., El-Helou, E., Licardie-Bolanos, E., Porto, E. I., Contreras, E., Boerma, E. -J., Cianchi, F., Marino, F., Uggeri, F., Han, F., Calculli, F., Falaschi, F., Ghignone, F., Perrone, F., Borghi, F., Garcia, F., Agresta, F., Cananzi, F. C. M., Mendoza-Moreno, F., Cengiz, F., Almeida, F. M., Baracchi, F., Carannante, F., la Torre, F., Fernandes, F., Friedmacher, F., Grama, F., Carissimi, F., Pecchini, F., Bianco, F., Colombo, F., Ferrara, F., Litta, F., Carrano, F. M., Martignoni, F., Tasselli, F. M., Milone, F., Pata, F., Sammartino, F., Zambianchi, F., Barragan, F., Herrero, F., Schlottmann, F., Den Boer, F. C., Pfeffer, F., Fujita, F., Navarra, G., Herrera-Almario, G., Pozzo, G., Capolupo, G. T., van Ramshorst, G. H., Liscia, G., Gallo, G., Asawa, G., Wang, G., Raiyani, G., Beets, G., Naval, G. S., Jin, G., Chang, G. J., Saakian, G., Kahane, G., Borroni, G., Lo Secco, G., Baiocchi, G. L., Baronio, G., Pagano, G., Pattacini, G. C., Lisi, G., Milito, G., Sinibaldi, G., Serrao, G., Bagaglini, G., Sarro, G., Brisinda, Giuseppe, Candilio, G., Mangiameli, G., Giuliani, G., Martin-Martin, G. P., Bodzin, G., Leon, G., Mackay, G., Vasil, G., Palmisano, G., Giovanna, G. M., Fernandez, G. C., Steingel, G. B., Zhang, G., Choi, G. S., Chen, H., Hirose, H., Kayano, H., Ulgur, H. S., Impellizzeri, H., Ariola, H., Liu, H., Medina, H., Miyauchi, H., Takahashi, H., Hayashi, H., Ishikawa, H., Ishida, H., de Vries, H., Ulman, H., Kon, H., Ota, H., Akamatsu, H., Tamagawa, H., Shoji, H., Egi, H., Matsubara, H., Miki, H., Elfeki, H., Lin, H. -H., Giani, I., Caravaca-Garcia, I., Takemasa, I., Angriman, I., Negoi, I., Volkova, I., Russo, I., Kronberger, I. E., Shageev, I., Aydin, I., Mora-Guzman, I., Novak, I., Giuliano, I., Rachmuth, J., Ngu, J. C. -Y., Glasbey, J., Stoot, J., Zatecky, J., Melenhorst, J., van der Wal, J. B. C., Leijtens, J., Bogach, J., Elliott, J., de Wilt, J. H. W., Han, J., Cui, J., Liu, J., Khan, J., Wirawan, J. P., Zhang, J., Manyari, J. D. O., Doerner, J., Bock, J., Konsten, J., Castro, J. M., Grobas, J. P., Pinto, J. P., Juloski, J., Laina, J. L. B., Solorzano, J. J., Lopez, J. R. G., Li, J., Watanabe, J., Kwak, J. -M., Hasegawa, J., Hiro, J., Sergey, K., Zhang, K., Nagahori, K., Martinez, K., Tokuhara, K., Danno, K., Uehara, K., Yoshimatsu, K., Ehara, K., Ueda, K., Suda, K., Yamamoto, K., Ishimaru, K., Kimura, K., Hirata, K., Deen, K., Imaizumi, K., Yamada, J., Tanakura, K., Rida, K., Sugimoto, K., Kotaro, K., Shi, K., Okabayashi, K., Hida, K., Kataoka, K., Hongo, K., Xia, K., Tseng, L., Reime, L., Lorenzon, L., Ruano, L. M., Zhou, L., de Nes, L., Brandariz, L., Morini, L., Petagna, L., Ripamonti, L., Martinez, L. H., Pio, L., Sacco, L., Carvalho, L., Zorcolo, L., Perez-Sanchez, L. E., Esparza, L. H. R., Aguilar, L. T., Garner, M., Sugimoto, M., Nagashima, M., Shiozawa, M., Simone, M., Ferrer-Marquez, M., Carvalho, M., Alifano, M., Arganini, M., Calussi, M., Catarci, M., Allaix, M. E., Forlin, M., Milone, M., Paci, M., Fodor, M., Antipova, M., Martos, M. B., Giuffrida, M. C., Tabernilla, M. D., Quiros, M. J. A., Lemma, M., Correo, M. L. R. D., Malowiecka, M., Bellomo, M. P., Fernandez, M. R., Socias, M., Rizk, M., Aurora, M., Antolinez, M. A., Ninkovic, M., Giuffrida, M., Leeuwenburgh, M. M. N., de Roos, M. A. J., Lara, M. C., Agustin, M. C., Cuadrado, M., Pascual, M., Lemmerer, M., Carlos, R., Okamoto, M., Miyo, M., Inomata, M., Ikenaga, M., Tsujie, M., Yasuno, M., Kotake, M., Sato, M., Yasui, M., Lavazza, M., Rottoli, M., Zuin, M., Zuluaga, M., Cervellera, M., Cesari, M., Zizzo, M., Garino, M., Ghirardi, M., Montuori, M., Podda, M., Santarelli, M., Koc, M. A., Baini, M., de Cillia, M., de Rosa, M., Manigrasso, M., Zuolo, M., Cunha, M. F., Misca, M., Slavchev, M., Danilov, M., Shigaev, M., Martens, M., Kobayashi, M., Ren, M., Ishizuka, M., Hassan, M. M., Siblini, M., Sahloul, M., Keramati, M. R., Karunakaran, M., Markel, M., Majeed, M., Younis, M. U., Akin, M. I., Laraibe, M., Derebey, M., Kendirci, M., Fukunaga, M., Matsubara, N., Ordaz, N. E. C., Samalavicius, N. E., Keeratibharat, N., de Angelis, N., Gica, N., Mariani, N. M., Ramino, N., Falco, N., Smart, N., de Korte, N., Kok, N. F. M., Jamieson, N. B., Aberyasev, N., Bruklich, N., Ichikawa, N., Miyoshi, N., de Palma, N., Figueiredo, N., Torrecilla, N. O., Dybov, O. G., Yudin, O., Crepin, O., Gomez, O., Sert, O. Z., Lominchar, P. L., Menendez, P., de Nardi, P., Tejedor, P., Jordan, P., Tan, P., Marsanic, P., Natalya, P., Banos, P. P., Rebasa, P., Neary, P. M., Tanis, P., Giustacchini, P., Anoldo, P., Concejo, P., Cao, P., Chandrasinghe, P., Abeyratne, P., Wang, Q., Klicks, R. J., Mukai, R., Riquelme, R. F., de Luca, R., Galli, R., Gianesini, R., Moorjani, R. G., Deshpande, R. K., Gorter, R., Ledesma, R. L., Ruslan, R. -G., Chhabra, R., Talreja-Pelaez, R., Suzuki, R., Balestri, R., Rosati, R., Kiblawi, R., Martins, R., Angelico, R., Tutino, R., Persiani, R., Pollastri, R., Lopez, R. G., Perez, R. O., Hompes, R., Lukanin, R., Roser Termes, S. R., Brunaccino, R., Nakanishi, R., Stefan, S., Hernandez, S. P. S., Di Carlo, S., Ingallinella, S., Domoto, S., Ikeda, S., Mikalauskas, S., Kim, S. H., Mantova, S., Barbuta, S., Li, S., Yamaguchi, S., Yam-Agishi, S., Homma, S., Tsujinaka, S., Yoshioka, S., Mori, S., Tewari, S., Rayman, S., Horiuchi, S., Matoba, S., Morita, S., Yaman, S., Vigna, S., Testa, S., Ng, S., Deidda, S., Cicconi, S., Di Maria, S., Sibio, S., Ersoz, S., Pejkova, S., Altarifi, S., He, S., Malakorn, S., Meindert, S., Sumikawa, S., Parmar, S., Uranitsch, S., D'Ugo, S., Giuliani, S., Breukink, S., Lee, S. -H., Hata, T., Ishikawa, T., Akiyoshi, T., Azuma, T., Kobatake, T., Fukuzaki, T., Aiyama, T., Yamada, T., Garmanova, T., Gomez-Sanchez, T., Yamaguchi, T., de Jesus Flores, T., Usub, T., Tsuruma, T., Shimizu, T., Hristov, T. G., van Loon, T., Funakoshi, T., Manzia, T. M., Kiyomatsu, T., Katayama, T., Akagi, T., Mizushima, T., Kazuhito, U., Elmore, U., Grossi, U., Trucha, V. A., Rodriguez, V. S., Testa, V., Tonini, V., Celentano, V., Nekoval, V. M., Bettencourt, V., Mammadov, V., Leyva, V. A. G., Mariscal, V. G. O., Seid, V. E., Klemann, V., Turrado-Rodriguez, V., Papagni, V., Vento, V., Frering, V., Vigorita, V., Petrove, V. V., Lyadov, V., Fu, W., Mi, W., Jeong, W. K., Leclercq, W. K. G., de Sousa, X., Zhao, X., Li, X., Wang, X., Yang, X., Zhang, X., Zhen, Y., Dong, Y., Erushevich, Y., Takii, Y., Sumi, Y., Loli, Y. T., Yifat, Y. L., Shimada, Y., Nabeya, Y., Ide, Y., Wu, Y., Tsukada, Y., Miyamoto, Y., Toiyama, Y., Fujie, Y., Kaneko, Y., Mokutani, Y., Fujii, Y., Kanemitsu, Y., Medkova, Y., Chen, Y., Ruiz, Y. G., Kinugasa, Y., Sow, Z., Razzaq, Z., Wang, Z., Liu, Z., Han, Z., Tai, Z., Lai, Z., Ng, Z. Q., Dambrauskas, Z., Ratto C. (ORCID:0000-0002-0556-0037), Brisinda G. (ORCID:0000-0001-8820-9471), Bellato, V., Konishi, T., Pellino, G., An, Y., Piciocchi, A., Sensi, B., Siragusa, L., Khanna, K., Pirozzi, B. M., Franceschilli, M., Campanelli, M., Efetov, S., Sica, G. S., Ratto, Carlo, Kefleyesus, A., Hoofwijk, A. G. M., Eldaly, A. S., Gonzalez, A., Jawad, A., Jooma, A., Hafez, A. M., Rubio, A. V., Landaluce-Olavarria, A., Wu, A., Nagatsu, A., Inoue, A., Kanamoto, A., Ouchi, A., El-Hussuna, A., Vazquez-Melero, A., Wolthuis, A. M., Peral, A. M., Lozano, A. C., Efremov, A., Ryasantsev, A. V., Di Giorgio, A., Parente, A., Tamburrini, A., Alo, A., Forero-Torres, A., Vahrmeijer, A. L., Varabei, A., Hinojosa, S., Zeynel, A., Balkan, A., Frontali, A., Oleg, A., Soler-Silva, A., Makni, A., Andre, A., Cabrera, A. M. G., Fernandez, A. M. G., Minaya-Bravo, A. M., Rodriguez-Sanchez, A., Musina, A. -M., Pangeni, A., Zolotko, A., Tonoyan, A., Balla, A., Belli, A., Cavallaro, A., Chierici, A., Divizia, A., Bucci, A. F., Salido, A. J., Morini, A., Muratore, A., Vignali, A., Chitul, A., Sebastian, D. A., Pcolkins, A., Shchegolev, A., Hollenbeck, A., Wisneski, A., Iossa, A., D'Amore, A., Hunter, A., Hesketh, A. J., la Brocca, A., Spinelli, A., Caires, A., D'Alessandro, A., Correo, A. F. S. L., Macri, A., Navarro-Sanchez, A., Pronk, A., Akunc, A., Mehri, A., Pelta, A., Papadopoulos, A., Kechagias, A., Rashid, A., Ramazanov, A., Chandio, A., Kohyama, A., Nishimura, A., Ohkawa, A., Dulskas, A., Jamal, A., Mariani, A., Unal, A. G., Karagoz, A., Ozkan, B. B., Salih, B., Gulcu, B., Pessia, B., Martin-Perez, B., Ielpo, B., Tulelli, B., Yang, B., Mhamed, B., Murphy, B., Langenhoff, B., Belevi, B., Guney, B., Ng, C., Rueda, C., Roxburgh, C. S., Feo, C. V., Ferrari, C., Gazia, C., Pratesi, C., Ratto, C., Santacruz, C. C., Arroyave, C. R. M., Macias, C., Fernandez, C. G., Fernandez, C. C., Curtis-Martinez, C., Fortmann, C., Kim, C., Galeano, C. U., Barroso, C., Baldi, C., Foppa, C., Formisano, C., Li, C., Ding, C., Wang, C., Iacusso, C., Yang, C., Pizzera, C., Skias, C., Chouliras, C., Liakos, C., Matsuda, C., Wu, C. -Y., Ozaslan, C., Tanda, C., Tommaso, C. M., Dagorno, C., Ramos, C. P. A., Arcudi, C., Coco, C., Morales, C. M., Ali, M. Z., de Azevedo, C. T. M., Lozano, C. C., Sala, C., Leo, C. A., Scarpa, C. R., Ferro, C. V., Fernandez, C. M., Morales-Garcia, D., Nakano, D., Cristian, D., Hechtl, D., Canovas, D. T., Calabrese, D., Rega, D., Ferraro, D., Morezzi, D., Sommacale, D., Brogden, D., Miskovic, D., Merlini, D., Pertile, D., Coniglio, D., Zhu, D., Wu, D., Coletta, D., Rubio, D. R., Sasia, D., Fillipov, D., Russiello, D., Dardanov, D., Consten, E. C. J., Smolskas, E., Muttillo, E. M., Jones, E., Sunami, E., Etienne, E. -H., Chalkiadaki, E., Giacomelli, E., Karbovnichaya, E., Ruiz-Ucar, E., Guaitoli, E., Samadov, E., Jovine, E., Treppiedi, E., Vaterlini, E. M., Zambaiti, E., Moggia, E., Coetzee, E., Chisari, E., D'Errico, E., Ciofic, E., Pena, E., Kurt, E., Balik, E., Gunay, E., Sivrikoz, E., Andolfi, E., Araimo, E., Lucci, E., Opocher, E., Pinotti, E., Rubino, E., Reyhan, E., Mazzotta, E., Navarro, E. B., El-Helou, E., Licardie-Bolanos, E., Porto, E. I., Contreras, E., Boerma, E. -J., Cianchi, F., Marino, F., Uggeri, F., Han, F., Calculli, F., Falaschi, F., Ghignone, F., Perrone, F., Borghi, F., Garcia, F., Agresta, F., Cananzi, F. C. M., Mendoza-Moreno, F., Cengiz, F., Almeida, F. M., Baracchi, F., Carannante, F., la Torre, F., Fernandes, F., Friedmacher, F., Grama, F., Carissimi, F., Pecchini, F., Bianco, F., Colombo, F., Ferrara, F., Litta, F., Carrano, F. M., Martignoni, F., Tasselli, F. M., Milone, F., Pata, F., Sammartino, F., Zambianchi, F., Barragan, F., Herrero, F., Schlottmann, F., Den Boer, F. C., Pfeffer, F., Fujita, F., Navarra, G., Herrera-Almario, G., Pozzo, G., Capolupo, G. T., van Ramshorst, G. H., Liscia, G., Gallo, G., Asawa, G., Wang, G., Raiyani, G., Beets, G., Naval, G. S., Jin, G., Chang, G. J., Saakian, G., Kahane, G., Borroni, G., Lo Secco, G., Baiocchi, G. L., Baronio, G., Pagano, G., Pattacini, G. C., Lisi, G., Milito, G., Sinibaldi, G., Serrao, G., Bagaglini, G., Sarro, G., Brisinda, Giuseppe, Candilio, G., Mangiameli, G., Giuliani, G., Martin-Martin, G. P., Bodzin, G., Leon, G., Mackay, G., Vasil, G., Palmisano, G., Giovanna, G. M., Fernandez, G. C., Steingel, G. B., Zhang, G., Choi, G. S., Chen, H., Hirose, H., Kayano, H., Ulgur, H. S., Impellizzeri, H., Ariola, H., Liu, H., Medina, H., Miyauchi, H., Takahashi, H., Hayashi, H., Ishikawa, H., Ishida, H., de Vries, H., Ulman, H., Kon, H., Ota, H., Akamatsu, H., Tamagawa, H., Shoji, H., Egi, H., Matsubara, H., Miki, H., Elfeki, H., Lin, H. -H., Giani, I., Caravaca-Garcia, I., Takemasa, I., Angriman, I., Negoi, I., Volkova, I., Russo, I., Kronberger, I. E., Shageev, I., Aydin, I., Mora-Guzman, I., Novak, I., Giuliano, I., Rachmuth, J., Ngu, J. C. -Y., Glasbey, J., Stoot, J., Zatecky, J., Melenhorst, J., van der Wal, J. B. C., Leijtens, J., Bogach, J., Elliott, J., de Wilt, J. H. W., Han, J., Cui, J., Liu, J., Khan, J., Wirawan, J. P., Zhang, J., Manyari, J. D. O., Doerner, J., Bock, J., Konsten, J., Castro, J. M., Grobas, J. P., Pinto, J. P., Juloski, J., Laina, J. L. B., Solorzano, J. J., Lopez, J. R. G., Li, J., Watanabe, J., Kwak, J. -M., Hasegawa, J., Hiro, J., Sergey, K., Zhang, K., Nagahori, K., Martinez, K., Tokuhara, K., Danno, K., Uehara, K., Yoshimatsu, K., Ehara, K., Ueda, K., Suda, K., Yamamoto, K., Ishimaru, K., Kimura, K., Hirata, K., Deen, K., Imaizumi, K., Yamada, J., Tanakura, K., Rida, K., Sugimoto, K., Kotaro, K., Shi, K., Okabayashi, K., Hida, K., Kataoka, K., Hongo, K., Xia, K., Tseng, L., Reime, L., Lorenzon, L., Ruano, L. M., Zhou, L., de Nes, L., Brandariz, L., Morini, L., Petagna, L., Ripamonti, L., Martinez, L. H., Pio, L., Sacco, L., Carvalho, L., Zorcolo, L., Perez-Sanchez, L. E., Esparza, L. H. R., Aguilar, L. T., Garner, M., Sugimoto, M., Nagashima, M., Shiozawa, M., Simone, M., Ferrer-Marquez, M., Carvalho, M., Alifano, M., Arganini, M., Calussi, M., Catarci, M., Allaix, M. E., Forlin, M., Milone, M., Paci, M., Fodor, M., Antipova, M., Martos, M. B., Giuffrida, M. C., Tabernilla, M. D., Quiros, M. J. A., Lemma, M., Correo, M. L. R. D., Malowiecka, M., Bellomo, M. P., Fernandez, M. R., Socias, M., Rizk, M., Aurora, M., Antolinez, M. A., Ninkovic, M., Giuffrida, M., Leeuwenburgh, M. M. N., de Roos, M. A. J., Lara, M. C., Agustin, M. C., Cuadrado, M., Pascual, M., Lemmerer, M., Carlos, R., Okamoto, M., Miyo, M., Inomata, M., Ikenaga, M., Tsujie, M., Yasuno, M., Kotake, M., Sato, M., Yasui, M., Lavazza, M., Rottoli, M., Zuin, M., Zuluaga, M., Cervellera, M., Cesari, M., Zizzo, M., Garino, M., Ghirardi, M., Montuori, M., Podda, M., Santarelli, M., Koc, M. A., Baini, M., de Cillia, M., de Rosa, M., Manigrasso, M., Zuolo, M., Cunha, M. F., Misca, M., Slavchev, M., Danilov, M., Shigaev, M., Martens, M., Kobayashi, M., Ren, M., Ishizuka, M., Hassan, M. M., Siblini, M., Sahloul, M., Keramati, M. R., Karunakaran, M., Markel, M., Majeed, M., Younis, M. U., Akin, M. I., Laraibe, M., Derebey, M., Kendirci, M., Fukunaga, M., Matsubara, N., Ordaz, N. E. C., Samalavicius, N. E., Keeratibharat, N., de Angelis, N., Gica, N., Mariani, N. M., Ramino, N., Falco, N., Smart, N., de Korte, N., Kok, N. F. M., Jamieson, N. B., Aberyasev, N., Bruklich, N., Ichikawa, N., Miyoshi, N., de Palma, N., Figueiredo, N., Torrecilla, N. O., Dybov, O. G., Yudin, O., Crepin, O., Gomez, O., Sert, O. Z., Lominchar, P. L., Menendez, P., de Nardi, P., Tejedor, P., Jordan, P., Tan, P., Marsanic, P., Natalya, P., Banos, P. P., Rebasa, P., Neary, P. M., Tanis, P., Giustacchini, P., Anoldo, P., Concejo, P., Cao, P., Chandrasinghe, P., Abeyratne, P., Wang, Q., Klicks, R. J., Mukai, R., Riquelme, R. F., de Luca, R., Galli, R., Gianesini, R., Moorjani, R. G., Deshpande, R. K., Gorter, R., Ledesma, R. L., Ruslan, R. -G., Chhabra, R., Talreja-Pelaez, R., Suzuki, R., Balestri, R., Rosati, R., Kiblawi, R., Martins, R., Angelico, R., Tutino, R., Persiani, R., Pollastri, R., Lopez, R. G., Perez, R. O., Hompes, R., Lukanin, R., Roser Termes, S. R., Brunaccino, R., Nakanishi, R., Stefan, S., Hernandez, S. P. S., Di Carlo, S., Ingallinella, S., Domoto, S., Ikeda, S., Mikalauskas, S., Kim, S. H., Mantova, S., Barbuta, S., Li, S., Yamaguchi, S., Yam-Agishi, S., Homma, S., Tsujinaka, S., Yoshioka, S., Mori, S., Tewari, S., Rayman, S., Horiuchi, S., Matoba, S., Morita, S., Yaman, S., Vigna, S., Testa, S., Ng, S., Deidda, S., Cicconi, S., Di Maria, S., Sibio, S., Ersoz, S., Pejkova, S., Altarifi, S., He, S., Malakorn, S., Meindert, S., Sumikawa, S., Parmar, S., Uranitsch, S., D'Ugo, S., Giuliani, S., Breukink, S., Lee, S. -H., Hata, T., Ishikawa, T., Akiyoshi, T., Azuma, T., Kobatake, T., Fukuzaki, T., Aiyama, T., Yamada, T., Garmanova, T., Gomez-Sanchez, T., Yamaguchi, T., de Jesus Flores, T., Usub, T., Tsuruma, T., Shimizu, T., Hristov, T. G., van Loon, T., Funakoshi, T., Manzia, T. M., Kiyomatsu, T., Katayama, T., Akagi, T., Mizushima, T., Kazuhito, U., Elmore, U., Grossi, U., Trucha, V. A., Rodriguez, V. S., Testa, V., Tonini, V., Celentano, V., Nekoval, V. M., Bettencourt, V., Mammadov, V., Leyva, V. A. G., Mariscal, V. G. O., Seid, V. E., Klemann, V., Turrado-Rodriguez, V., Papagni, V., Vento, V., Frering, V., Vigorita, V., Petrove, V. V., Lyadov, V., Fu, W., Mi, W., Jeong, W. K., Leclercq, W. K. G., de Sousa, X., Zhao, X., Li, X., Wang, X., Yang, X., Zhang, X., Zhen, Y., Dong, Y., Erushevich, Y., Takii, Y., Sumi, Y., Loli, Y. T., Yifat, Y. L., Shimada, Y., Nabeya, Y., Ide, Y., Wu, Y., Tsukada, Y., Miyamoto, Y., Toiyama, Y., Fujie, Y., Kaneko, Y., Mokutani, Y., Fujii, Y., Kanemitsu, Y., Medkova, Y., Chen, Y., Ruiz, Y. G., Kinugasa, Y., Sow, Z., Razzaq, Z., Wang, Z., Liu, Z., Han, Z., Tai, Z., Lai, Z., Ng, Z. Q., Dambrauskas, Z., Ratto C. (ORCID:0000-0002-0556-0037), and Brisinda G. (ORCID:0000-0001-8820-9471)
- Abstract
Background: In a surgical setting, COVID-19 patients may trigger in-hospital outbreaks and have worse postoperative outcomes. Despite these risks, there have been no consistent statements on surgical guidelines regarding the perioperative screening or management of COVID-19 patients, and we do not have objective global data that describe the current conditions surrounding this issue. This study aimed to clarify the current global surgical practice including COVID-19 screening, preventive measures and in-hospital infection under the COVID-19 pandemic, and to clarify the international gaps on infection control policies among countries worldwide. Methods: During April 2-8, 2020, a cross-sectional online survey on surgical practice was distributed to surgeons worldwide through international surgical societies, social media and personal contacts. Main outcome and measures included preventive measures and screening policies of COVID-19 in surgical practice and centers' experiences of in-hospital COVID-19 infection. Data were analyzed by country's cumulative deaths number by April 8, 2020 (high risk, >5000; intermediate risk, 100-5000; low risk, <100). Results: A total of 936 centers in 71 countries responded to the survey (high risk, 330 centers; intermediate risk, 242 centers; low risk, 364 centers). In the majority (71.9%) of the centers, local guidelines recommended preoperative testing based on symptoms or suspicious radiologic findings. Universal testing for every surgical patient was recommended in only 18.4% of the centers. In-hospital COVID-19 infection was reported from 31.5% of the centers, with higher rates in higher risk countries (high risk, 53.6%; intermediate risk, 26.4%; low risk, 14.8%; P < 0.001). Of the 295 centers that experienced in-hospital COVID-19 infection, 122 (41.4%) failed to trace it and 58 (19.7%) reported the infection originating from asymptomatic patients/staff members. Higher risk countries adopted more preventive measures includ
- Published
- 2020
23. Impact of asymptomatic COVID-19 patients in global surgical practice during the COVID-19 pandemic
- Author
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Bellato, V., Konishi, T., Pellino, G., An, Y., Piciocchi, A., Khanna, K., Campanelli, M., Efetov, S., Sica, G. S., Kefleyesus, A., Hoofwijk, A. G. M., Eldaly, A. S., Gonzalez, A., Jawad, A., Jooma, A., Hafez, A. M., Rubio, A. V., Landaluce-Olavarria, A., Wu, A., Nagatsu, A., Inoue, A., Kanamoto, A., Ouchi, A., El-Hussuna, A., Vazquez-Melero, A., Wolthuis, A. M., Peral, A. M., Lozano, A. C., Efremov, A., Ryasantsev, A. V., Giorgio, A. D., Parente, A., Tamburrini, A., Alo, A., Forero-Torres, A., Vahrmeijer, A. L., Varabei, A., Hinojosa, S., Balkan, A. Z. A., Frontali, A., Oleg, A., Soler-Silva, A., Makni, A., Andre, A., Cabrera, A. M. G., Fernandez, A. M. G., Minaya-Bravo, A. M., Rodriguez-Sanchez, A., Musina, A. -M., Pangeni, A., Zolotko, A., Tonoyan, A., Balla, A., Belli, A., Cavallaro, A., Chierici, A., Divizia, A., Bucci, A. F., Salido, A. J., Morini, A., Muratore, A., Vignali, A., Chitul, A., Sebastian, D. A., Pcolkins, A., Shchegolev, A., Hollenbeck, A., Wisneski, A., Iossa, A., D'Amore, A., Hunter, A., Hesketh, A. J., Brocca, A. L., Spinelli, A., Caires, A., D'Alessandro, A., Correo, A. F. S. L., Macri, A., Navarro-Sanchez, A., Pronk, A., Akunc, A., Mehri, A., Pelta, A., Papadopoulos, A., Kechagias, A., Rashid, A., Ramazanov, A., Chandio, A., Kohyama, A., Nishimura, A., Ohkawa, A., Dulskas, A., Jamal, A., Mariani, A., Unal, A. G., Karagoz, A., Ozkan, B. B., Salih, B., Gulcu, B., Pessia, B., Martin-Perez, B., Ielpo, B., Tulelli, B., Yang, B., Mhamed, B., Murphy, B., Pirozzi, B. M., Sensi, B., Langenhoff, B., Belevi, B., Guney, B., Ng, C., Rueda, C., Roxburgh, C. S., Feo, C. V., Ferrari, C., Gazia, C., Pratesi, C., Ratto, Carlo, Santacruz, C. C., Arroyave, C. R. M., Macias, C., Fernandez, C. G., Fernandez, C. C., Curtis-Martinez, C., Fortmann, C., Kim, C., Galeano, C. U., Barroso, C., Baldi, C., Foppa, C., Formisano, C., Li, C., Ding, C., Wang, C., Iacusso, C., Yang, C., Pizzera, C., Skias, C., Chouliras, C., Liakos, C., Matsuda, C., Wu, C. -Y., Ozaslan, C., Tanda, C., Tommaso, C. M., Dagorno, C., Ramos, C. P. A., Arcudi, C., Coco, C., Morales, C. M., Ali, M. Z., De Azevedo, C. T. M., Lozano, C. C., Sala, C., Leo, C. A., Scarpa, C. R., Ferro, C. V., Fernandez, C. M., Morales-Garcia, D., Nakano, D., Cristian, D., Hechtl, D., Canovas, D. T., Calabrese, D., Rega, D., Ferraro, D., Morezzi, D., Sommacale, D., Brogden, D., Miskovic, D., Merlini, D., Pertile, D., Coniglio, D., Zhu, D., Wu, D., Coletta, D., Rubio, D. R., Sasia, D., Fillipov, D., Russiello, D., Dardanov, D., Consten, E. C. J., Smolskas, E., Muttillo, E. M., Jones, E., Sunami, E., Etienne, E. -H., Chalkiadaki, E., Giacomelli, E., Karbovnichaya, E., Ruiz-Ucar, E., Guaitoli, E., Samadov, E., Jovine, E., Treppiedi, E., Vaterlini, E. M., Zambaiti, E., Moggia, E., Coetzee, E., Chisari, E., D'Errico, E., Ciofic, E., Pena, E., Kurt, E., Balik, E., Gunay, E., Sivrikoz, E., Andolfi, E., Araimo, E., Lucci, E., Opocher, E., Pinotti, E., Rubino, E., Reyhan, E., Mazzotta, E., Navarro, E. B., El-Helou, E., Licardie-Bolanos, E., Porto, E. I., Contreras, E., Boerma, E. -J., Cianchi, F., Marino, F., Uggeri, F., Han, F., Calculli, F., Falaschi, F., Ghignone, F., Perrone, F., Borghi, F., Garcia, F., Agresta, F., Cananzi, F. C. M., Mendoza-Moreno, F., Cengiz, F., Almeida, F. M., Baracchi, F., Carannante, F., Torre, F. L., Fernandes, F., Friedmacher, F., Grama, F., Carissimi, F., Pecchini, F., Bianco, F., Colombo, F., Ferrara, F., Litta, F., Carrano, F. M., Martignoni, F., Tasselli, F. M., Milone, F., Pata, F., Sammartino, F., Zambianchi, F., Barragan, F., Herrero, F., Schlottmann, F., Den Boer, F. C., Pfeffer, F., Fujita, F., Navarra, G., Herrera-Almario, G., Pozzo, G., Capolupo, G. T., Van Ramshorst, G. H., Liscia, G., Gallo, G., Asawa, G., Wang, G., Raiyani, G., Beets, G., Naval, G. S., Jin, G., Chang, G. J., Saakian, G., Kahane, G., Borroni, G., Secco, G. L., Baiocchi, G. L., Baronio, G., Pagano, G., Pattacini, G. C., Lisi, G., Milito, G., Sinibaldi, G., Serrao, G., Bagaglini, G., Sarro, G., Brisinda, Giuseppe, Candilio, G., Mangiameli, G., Giuliani, G., Martin-Martin, G. P., Bodzin, G., Leon, G., Mackay, G., Vasil, G., Palmisano, G., Giovanna, G. M., Fernandez, G. C., Steingel, G. B., Zhang, G., Choi, G. S., Chen, H., Hirose, H., Kayano, H., Ulgur, H. S., Impellizzeri, H., Ariola, H., Liu, H., Medina, H., Miyauchi, H., Takahashi, H., Hayashi, H., Ishikawa, H., Ishida, H., De Vries, H., Ulman, H., Kon, H., Ota, H., Akamatsu, H., Tamagawa, H., Shoji, H., Egi, H., Matsubara, H., Miki, H., Elfeki, H., Lin, H. -H., Giani, I., Caravaca-Garcia, I., Takemasa, I., Angriman, I., Negoi, I., Volkova, I., Russo, I., Kronberger, I. E., Shageev, I., Aydin, I., Guzman, I. M., Novak, I., Giuliano, I., Rachmuth, J., Ngu, J. C. -Y., Glasbey, J., Stoot, J., Zatecky, J., Melenhorst, J., Van Der Wal, J. B. C., Leijtens, J., Bogach, J., Elliott, J., De Wilt, J. H. W., Han, J., Cui, J., Liu, J., Khan, J., Wirawan, J. P., Zhang, J., Manyari, J. D. O., Doerner, J., Bock, J., Konsten, J., Castro, J. M., Grobas, J. P., Pinto, J. P., Juloski, J., Laina, J. L. B., Solorzano, J. J., Lopez, J. R. G., Li, J., Watanabe, J., Kwak, J. -M., Hasegawa, J., Hiro, J., Sergey, K., Zhang, K., Nagahori, K., Martinez, K., Tokuhara, K., Danno, K., Uehara, K., Yoshimatsu, K., Ehara, K., Ueda, K., Suda, K., Yamamoto, K., Ishimaru, K., Kimura, K., Hirata, K., Deen, K., Imaizumi, K., Yamada, J., Tanakura, K., Rida, K., Sugimoto, K., Kotaro, K., Shi, K., Okabayashi, K., Hida, K., Kataoka, K., Hongo, K., Xia, K., Tseng, L., Reime, L., Lorenzon, L., Ruano, L. M., Siragusa, L., Zhou, L., De Nes, L., Brandariz, L., Morini, L., Petagna, L., Ripamonti, L., Martinez, L. H., Pio, L., Sacco, L., Carvalho, L., Zorcolo, L., Perez-Sanchez, L. E., Esparza, L. H. R., Aguilar, L. T., Garner, M., Sugimoto, M., Nagashima, M., Shiozawa, M., Simone, M., Ferrer-Marquez, M., Carvalho, M., Alifano, M., Arganini, M., Calussi, M., Catarci, M., Allaix, M. E., Forlin, M., Milone, M., Paci, M., Franceschilli, M., Fodor, M., Antipova, M., Martos, M. B., Giuffrida, M. C., Tabernilla, M. D., Quiros, M. J. A., Lemma, M., Correo, M. L. R. D., Malowiecka, M., Bellomo, M. P., Fernandez, M. R., Socias, M., Rizk, M., Aurora, M., Antolinez, M. A., Ninkovic, M., Giuffrida, M., Leeuwenburgh, M. M. N., De Roos, M. A. J., Lara, M. C., Agustin, M. C., Cuadrado, M., Pascual, M., Lemmerer, M., Carlos, R., Okamoto, M., Miyo, M., Inomata, M., Ikenaga, M., Tsujie, M., Yasuno, M., Kotake, M., Sato, M., Yasui, M., Lavazza, M., Rottoli, M., Zuin, M., Zuluaga, M., Cervellera, M., Cesari, M., Zizzo, M., Garino, M., Ghirardi, M., Montuori, M., Podda, M., Santarelli, M., Koc, M. A., Baini, M., De Cillia, M., De Rosa, M., Manigrasso, M., Zuolo, M., Cunha, M. F., Misca, M., Slavchev, M., Danilov, M., Shigaev, M., Martens, M., Kobayashi, M., Ren, M., Ishizuka, M., Hassan, M. M., Siblini, M., Sahloul, M., Keramati, M. R., Karunakaran, M., Markel, M., Majeed, M., Younis, M. U., Akin, M. I., Laraibe, M., Derebey, M., Kendirci, M., Fukunaga, M., Matsubara, N., Ordaz, N. E. C., Samalavicius, N. E., Keeratibharat, N., De Angelis, N., Gica, N., Mariani, N. M., Ramino, N., Falco, N., Smart, N., De Korte, N., Kok, N. F. M., Jamieson, N. B., Aberyasev, N., Bruklich, N., Ichikawa, N., Miyoshi, N., De Palma, N., Figueiredo, N., Torrecilla, N. O., Dybov, O. G., Yudin, O., Crepin, O., Gomez, O., Sert, O. Z., Lominchar, P. L., Menendez, P., De Nardi, P., Tejedor, P., Jordan, P., Tan, P., Marsanic, P., Natalya, P., Banos, P. P., Rebasa, P., Neary, P. M., Tanis, P., Giustacchini, P., Anoldo, P., Concejo, P., Cao, P., Chandrasinghe, P., Abeyratne, P., Wang, Q., Klicks, R. J., Mukai, R., Riquelme, R. F., De Luca, R., Galli, R., Gianesini, R., Moorjani, R. G., Deshpande, R. K., Gorter, R., Ledesma, R. L., Ruslan, R., Chhabra, R., Talreja-Pelaez, R., Suzuki, R., Balestri, R., Rosati, R., Kiblawi, R., Martins, R., Angelico, R., Tutino, R., Persiani, R., Pollastri, R., Lopez, R. G., Perez, R. O., Hompes, R., Lukanin, R., Roser Termes Serra, R., Brunaccino, R., Nakanishi, R., Stefan, S., Hernandez, S. P. S., Carlo, S. D., Ingallinella, S., Domoto, S., Ikeda, S., Mikalauskas, S., Kim, S. H., Mantova, S., Barbuta, S., Li, S., Yamaguchi, S., Yamagishi, S., Homma, S., Tsujinaka, S., Yoshioka, S., Mori, S., Tewari, S., Rayman, S., Horiuchi, S., Matoba, S., Morita, S., Yaman, S., Vigna, S., Testa, S., Ng, S., Deidda, S., Cicconi, S., Maria, S. D., Sibio, S., Ersoz, S., Pejkova, S., Altarifi, S., He, S., Malakorn, S., Meindert, S., Sumikawa, S., Parmar, S., Uranitsch, S., D'Ugo, S., Giuliani, S., Breukink, S., Lee, S. -H., Hata, T., Ishikawa, T., Akiyoshi, T., Azuma, T., Kobatake, T., Fukuzaki, T., Aiyama, T., Yamada, T., Garmanova, T., Gomez-Sanchez, T., Yamaguchi, T., De Jesus Flores, T., Usub, T., Tsuruma, T., Shimizu, T., Hristov, T. G., Van Loon, T., Funakoshi, T., Manzia, T. M., Kiyomatsu, T., Katayama, T., Akagi, T., Mizushima, T., Kazuhito, U., Elmore, U., Grossi, U., Truchalev, V. A., Rodriguez, V. S., Testa, V., Tonini, V., Celentano, V., Nekoval, V. M., Bettencourt, V., Mammadov, V., Leyva, V. A. G., Mariscal, V. G. O., Seid, V. E., Klemann, V., Turrado-Rodriguez, V., Papagni, V., Vento, V., Frering, V., Vigorita, V., Petrove, V. V., Lyadov, V., Fu, W., Mi, W., Jeong, W. K., Leclercq, W. K. G., De Sousa, X., Zhao, X., Li, X., Wang, X., Yang, X., Zhang, X., Zhen, Y., Dong, Y., Erushevich, Y., Takii, Y., Sumi, Y., Loli, Y. T., Yifat, Y. L., Shimada, Y., Nabeya, Y., Ide, Y., Wu, Y., Tsukada, Y., Miyamoto, Y., Toiyama, Y., Fujie, Y., Kaneko, Y., Mokutani, Y., Fujii, Y., Kanemitsu, Y., Medkova, Y., Chen, Y., Ruiz, Y. G., Kinugasa, Y., Sow, Z., Razzaq, Z., Wang, Z., Liu, Z., Han, Z., Tai, Z., Lai, Z., Ng, Z. Q., Dambrauskas, Z., Ratto C. (ORCID:0000-0002-0556-0037), Brisinda G. (ORCID:0000-0001-8820-9471), Bellato, V., Konishi, T., Pellino, G., An, Y., Piciocchi, A., Khanna, K., Campanelli, M., Efetov, S., Sica, G. S., Kefleyesus, A., Hoofwijk, A. G. M., Eldaly, A. S., Gonzalez, A., Jawad, A., Jooma, A., Hafez, A. M., Rubio, A. V., Landaluce-Olavarria, A., Wu, A., Nagatsu, A., Inoue, A., Kanamoto, A., Ouchi, A., El-Hussuna, A., Vazquez-Melero, A., Wolthuis, A. M., Peral, A. M., Lozano, A. C., Efremov, A., Ryasantsev, A. V., Giorgio, A. D., Parente, A., Tamburrini, A., Alo, A., Forero-Torres, A., Vahrmeijer, A. L., Varabei, A., Hinojosa, S., Balkan, A. Z. A., Frontali, A., Oleg, A., Soler-Silva, A., Makni, A., Andre, A., Cabrera, A. M. G., Fernandez, A. M. G., Minaya-Bravo, A. M., Rodriguez-Sanchez, A., Musina, A. -M., Pangeni, A., Zolotko, A., Tonoyan, A., Balla, A., Belli, A., Cavallaro, A., Chierici, A., Divizia, A., Bucci, A. F., Salido, A. J., Morini, A., Muratore, A., Vignali, A., Chitul, A., Sebastian, D. A., Pcolkins, A., Shchegolev, A., Hollenbeck, A., Wisneski, A., Iossa, A., D'Amore, A., Hunter, A., Hesketh, A. J., Brocca, A. L., Spinelli, A., Caires, A., D'Alessandro, A., Correo, A. F. S. L., Macri, A., Navarro-Sanchez, A., Pronk, A., Akunc, A., Mehri, A., Pelta, A., Papadopoulos, A., Kechagias, A., Rashid, A., Ramazanov, A., Chandio, A., Kohyama, A., Nishimura, A., Ohkawa, A., Dulskas, A., Jamal, A., Mariani, A., Unal, A. G., Karagoz, A., Ozkan, B. B., Salih, B., Gulcu, B., Pessia, B., Martin-Perez, B., Ielpo, B., Tulelli, B., Yang, B., Mhamed, B., Murphy, B., Pirozzi, B. M., Sensi, B., Langenhoff, B., Belevi, B., Guney, B., Ng, C., Rueda, C., Roxburgh, C. S., Feo, C. V., Ferrari, C., Gazia, C., Pratesi, C., Ratto, Carlo, Santacruz, C. C., Arroyave, C. R. M., Macias, C., Fernandez, C. G., Fernandez, C. C., Curtis-Martinez, C., Fortmann, C., Kim, C., Galeano, C. U., Barroso, C., Baldi, C., Foppa, C., Formisano, C., Li, C., Ding, C., Wang, C., Iacusso, C., Yang, C., Pizzera, C., Skias, C., Chouliras, C., Liakos, C., Matsuda, C., Wu, C. -Y., Ozaslan, C., Tanda, C., Tommaso, C. M., Dagorno, C., Ramos, C. P. A., Arcudi, C., Coco, C., Morales, C. M., Ali, M. Z., De Azevedo, C. T. M., Lozano, C. C., Sala, C., Leo, C. A., Scarpa, C. R., Ferro, C. V., Fernandez, C. M., Morales-Garcia, D., Nakano, D., Cristian, D., Hechtl, D., Canovas, D. T., Calabrese, D., Rega, D., Ferraro, D., Morezzi, D., Sommacale, D., Brogden, D., Miskovic, D., Merlini, D., Pertile, D., Coniglio, D., Zhu, D., Wu, D., Coletta, D., Rubio, D. R., Sasia, D., Fillipov, D., Russiello, D., Dardanov, D., Consten, E. C. J., Smolskas, E., Muttillo, E. M., Jones, E., Sunami, E., Etienne, E. -H., Chalkiadaki, E., Giacomelli, E., Karbovnichaya, E., Ruiz-Ucar, E., Guaitoli, E., Samadov, E., Jovine, E., Treppiedi, E., Vaterlini, E. M., Zambaiti, E., Moggia, E., Coetzee, E., Chisari, E., D'Errico, E., Ciofic, E., Pena, E., Kurt, E., Balik, E., Gunay, E., Sivrikoz, E., Andolfi, E., Araimo, E., Lucci, E., Opocher, E., Pinotti, E., Rubino, E., Reyhan, E., Mazzotta, E., Navarro, E. B., El-Helou, E., Licardie-Bolanos, E., Porto, E. I., Contreras, E., Boerma, E. -J., Cianchi, F., Marino, F., Uggeri, F., Han, F., Calculli, F., Falaschi, F., Ghignone, F., Perrone, F., Borghi, F., Garcia, F., Agresta, F., Cananzi, F. C. M., Mendoza-Moreno, F., Cengiz, F., Almeida, F. M., Baracchi, F., Carannante, F., Torre, F. L., Fernandes, F., Friedmacher, F., Grama, F., Carissimi, F., Pecchini, F., Bianco, F., Colombo, F., Ferrara, F., Litta, F., Carrano, F. M., Martignoni, F., Tasselli, F. M., Milone, F., Pata, F., Sammartino, F., Zambianchi, F., Barragan, F., Herrero, F., Schlottmann, F., Den Boer, F. C., Pfeffer, F., Fujita, F., Navarra, G., Herrera-Almario, G., Pozzo, G., Capolupo, G. T., Van Ramshorst, G. H., Liscia, G., Gallo, G., Asawa, G., Wang, G., Raiyani, G., Beets, G., Naval, G. S., Jin, G., Chang, G. J., Saakian, G., Kahane, G., Borroni, G., Secco, G. L., Baiocchi, G. L., Baronio, G., Pagano, G., Pattacini, G. C., Lisi, G., Milito, G., Sinibaldi, G., Serrao, G., Bagaglini, G., Sarro, G., Brisinda, Giuseppe, Candilio, G., Mangiameli, G., Giuliani, G., Martin-Martin, G. P., Bodzin, G., Leon, G., Mackay, G., Vasil, G., Palmisano, G., Giovanna, G. M., Fernandez, G. C., Steingel, G. B., Zhang, G., Choi, G. S., Chen, H., Hirose, H., Kayano, H., Ulgur, H. S., Impellizzeri, H., Ariola, H., Liu, H., Medina, H., Miyauchi, H., Takahashi, H., Hayashi, H., Ishikawa, H., Ishida, H., De Vries, H., Ulman, H., Kon, H., Ota, H., Akamatsu, H., Tamagawa, H., Shoji, H., Egi, H., Matsubara, H., Miki, H., Elfeki, H., Lin, H. -H., Giani, I., Caravaca-Garcia, I., Takemasa, I., Angriman, I., Negoi, I., Volkova, I., Russo, I., Kronberger, I. E., Shageev, I., Aydin, I., Guzman, I. M., Novak, I., Giuliano, I., Rachmuth, J., Ngu, J. C. -Y., Glasbey, J., Stoot, J., Zatecky, J., Melenhorst, J., Van Der Wal, J. B. C., Leijtens, J., Bogach, J., Elliott, J., De Wilt, J. H. W., Han, J., Cui, J., Liu, J., Khan, J., Wirawan, J. P., Zhang, J., Manyari, J. D. O., Doerner, J., Bock, J., Konsten, J., Castro, J. M., Grobas, J. P., Pinto, J. P., Juloski, J., Laina, J. L. B., Solorzano, J. J., Lopez, J. R. G., Li, J., Watanabe, J., Kwak, J. -M., Hasegawa, J., Hiro, J., Sergey, K., Zhang, K., Nagahori, K., Martinez, K., Tokuhara, K., Danno, K., Uehara, K., Yoshimatsu, K., Ehara, K., Ueda, K., Suda, K., Yamamoto, K., Ishimaru, K., Kimura, K., Hirata, K., Deen, K., Imaizumi, K., Yamada, J., Tanakura, K., Rida, K., Sugimoto, K., Kotaro, K., Shi, K., Okabayashi, K., Hida, K., Kataoka, K., Hongo, K., Xia, K., Tseng, L., Reime, L., Lorenzon, L., Ruano, L. M., Siragusa, L., Zhou, L., De Nes, L., Brandariz, L., Morini, L., Petagna, L., Ripamonti, L., Martinez, L. H., Pio, L., Sacco, L., Carvalho, L., Zorcolo, L., Perez-Sanchez, L. E., Esparza, L. H. R., Aguilar, L. T., Garner, M., Sugimoto, M., Nagashima, M., Shiozawa, M., Simone, M., Ferrer-Marquez, M., Carvalho, M., Alifano, M., Arganini, M., Calussi, M., Catarci, M., Allaix, M. E., Forlin, M., Milone, M., Paci, M., Franceschilli, M., Fodor, M., Antipova, M., Martos, M. B., Giuffrida, M. C., Tabernilla, M. D., Quiros, M. J. A., Lemma, M., Correo, M. L. R. D., Malowiecka, M., Bellomo, M. P., Fernandez, M. R., Socias, M., Rizk, M., Aurora, M., Antolinez, M. A., Ninkovic, M., Giuffrida, M., Leeuwenburgh, M. M. N., De Roos, M. A. J., Lara, M. C., Agustin, M. C., Cuadrado, M., Pascual, M., Lemmerer, M., Carlos, R., Okamoto, M., Miyo, M., Inomata, M., Ikenaga, M., Tsujie, M., Yasuno, M., Kotake, M., Sato, M., Yasui, M., Lavazza, M., Rottoli, M., Zuin, M., Zuluaga, M., Cervellera, M., Cesari, M., Zizzo, M., Garino, M., Ghirardi, M., Montuori, M., Podda, M., Santarelli, M., Koc, M. A., Baini, M., De Cillia, M., De Rosa, M., Manigrasso, M., Zuolo, M., Cunha, M. F., Misca, M., Slavchev, M., Danilov, M., Shigaev, M., Martens, M., Kobayashi, M., Ren, M., Ishizuka, M., Hassan, M. M., Siblini, M., Sahloul, M., Keramati, M. R., Karunakaran, M., Markel, M., Majeed, M., Younis, M. U., Akin, M. I., Laraibe, M., Derebey, M., Kendirci, M., Fukunaga, M., Matsubara, N., Ordaz, N. E. C., Samalavicius, N. E., Keeratibharat, N., De Angelis, N., Gica, N., Mariani, N. M., Ramino, N., Falco, N., Smart, N., De Korte, N., Kok, N. F. M., Jamieson, N. B., Aberyasev, N., Bruklich, N., Ichikawa, N., Miyoshi, N., De Palma, N., Figueiredo, N., Torrecilla, N. O., Dybov, O. G., Yudin, O., Crepin, O., Gomez, O., Sert, O. Z., Lominchar, P. L., Menendez, P., De Nardi, P., Tejedor, P., Jordan, P., Tan, P., Marsanic, P., Natalya, P., Banos, P. P., Rebasa, P., Neary, P. M., Tanis, P., Giustacchini, P., Anoldo, P., Concejo, P., Cao, P., Chandrasinghe, P., Abeyratne, P., Wang, Q., Klicks, R. J., Mukai, R., Riquelme, R. F., De Luca, R., Galli, R., Gianesini, R., Moorjani, R. G., Deshpande, R. K., Gorter, R., Ledesma, R. L., Ruslan, R., Chhabra, R., Talreja-Pelaez, R., Suzuki, R., Balestri, R., Rosati, R., Kiblawi, R., Martins, R., Angelico, R., Tutino, R., Persiani, R., Pollastri, R., Lopez, R. G., Perez, R. O., Hompes, R., Lukanin, R., Roser Termes Serra, R., Brunaccino, R., Nakanishi, R., Stefan, S., Hernandez, S. P. S., Carlo, S. D., Ingallinella, S., Domoto, S., Ikeda, S., Mikalauskas, S., Kim, S. H., Mantova, S., Barbuta, S., Li, S., Yamaguchi, S., Yamagishi, S., Homma, S., Tsujinaka, S., Yoshioka, S., Mori, S., Tewari, S., Rayman, S., Horiuchi, S., Matoba, S., Morita, S., Yaman, S., Vigna, S., Testa, S., Ng, S., Deidda, S., Cicconi, S., Maria, S. D., Sibio, S., Ersoz, S., Pejkova, S., Altarifi, S., He, S., Malakorn, S., Meindert, S., Sumikawa, S., Parmar, S., Uranitsch, S., D'Ugo, S., Giuliani, S., Breukink, S., Lee, S. -H., Hata, T., Ishikawa, T., Akiyoshi, T., Azuma, T., Kobatake, T., Fukuzaki, T., Aiyama, T., Yamada, T., Garmanova, T., Gomez-Sanchez, T., Yamaguchi, T., De Jesus Flores, T., Usub, T., Tsuruma, T., Shimizu, T., Hristov, T. G., Van Loon, T., Funakoshi, T., Manzia, T. M., Kiyomatsu, T., Katayama, T., Akagi, T., Mizushima, T., Kazuhito, U., Elmore, U., Grossi, U., Truchalev, V. A., Rodriguez, V. S., Testa, V., Tonini, V., Celentano, V., Nekoval, V. M., Bettencourt, V., Mammadov, V., Leyva, V. A. G., Mariscal, V. G. O., Seid, V. E., Klemann, V., Turrado-Rodriguez, V., Papagni, V., Vento, V., Frering, V., Vigorita, V., Petrove, V. V., Lyadov, V., Fu, W., Mi, W., Jeong, W. K., Leclercq, W. K. G., De Sousa, X., Zhao, X., Li, X., Wang, X., Yang, X., Zhang, X., Zhen, Y., Dong, Y., Erushevich, Y., Takii, Y., Sumi, Y., Loli, Y. T., Yifat, Y. L., Shimada, Y., Nabeya, Y., Ide, Y., Wu, Y., Tsukada, Y., Miyamoto, Y., Toiyama, Y., Fujie, Y., Kaneko, Y., Mokutani, Y., Fujii, Y., Kanemitsu, Y., Medkova, Y., Chen, Y., Ruiz, Y. G., Kinugasa, Y., Sow, Z., Razzaq, Z., Wang, Z., Liu, Z., Han, Z., Tai, Z., Lai, Z., Ng, Z. Q., Dambrauskas, Z., Ratto C. (ORCID:0000-0002-0556-0037), and Brisinda G. (ORCID:0000-0001-8820-9471)
- Abstract
Not available
- Published
- 2020
24. Surgeons' fear of getting infected by COVID19: A global survey
- Author
-
An, Y., Bellato, V., Konishi, T., Pellino, G., Sensi, B., Siragusa, L., Franceschilli, M., Sica, G. S., Kefleyesus, A., Hoofwijk, A. G. M., Eldaly, A. S., Gonzalez, A., Jawad, A., Jooma, A., Hafez, A. M., Rubio, A. V., Landaluce-Olavarria, A., Wu, A., Nagatsu, A., Inoue, A., Kanamoto, A., Ouchi, A., El-Hussuna, A., Vazquez-Melero, A., Wolthuis, A. M., Peral, A. M., Lozano, A. C., Efremov, A., Ryasantsev, A. V., Giorgio, A. D., Parente, A., Tamburrini, A., Alo, A., Forero-Torres, A., Vahrmeijer, A. L., Varabei, A., Hinojosa, S., Balkan, A. Z. A., Frontali, A., Oleg, A., Soler-Silva, A., Makni, A., Andre, A., Cabrera, A. M. G., Fernandez, A. M. G., Minaya-Bravo, A. M., Rodriguez-Sanchez, A., Musina, A. -M., Pangeni, A., Zolotko, A., Tonoyan, A., Balla, A., Belli, A., Cavallaro, A., Chierici, A., Divizia, A., Bucci, A. F., Salido, A. J., Morini, A., Muratore, A., Vignali, A., Chitul, A., Sebastian, D. A., Pcolkins, A., Shchegolev, A., Hollenbeck, A., Wisneski, A., Iossa, A., D'Amore, A., Hunter, A., Hesketh, A. J., Brocca, A. L., Spinelli, A., Caires, A., D'Alessandro, A., Correo, A. F. S. L., Macri, A., Navarro-Sanchez, A., Pronk, A., Akunc, A., Mehri, A., Pelta, A., Papadopoulos, A., Kechagias, A., Rashid, A., Ramazanov, A., Chandio, A., Kohyama, A., Nishimura, A., Ohkawa, A., Dulskas, A., Jamal, A., Mariani, A., Unal, A. G., Karagoz, A., Ozkan, B. B., Salih, B., Gulcu, B., Pessia, B., Martin-Perez, B., Ielpo, B., Tulelli, B., Yang, B., Mhamed, B., Murphy, B., Pirozzi, B. M., Langenhoff, B., Belevi, B., Guney, B., Ng, C., Rueda, C., Roxburgh, C. S., Feo, C. V., Ferrari, C., Gazia, C., Pratesi, C., Ratto, Carlo, Santacruz, C. C., Arroyave, C. R. M., Macias, C., Fernandez, C. G., Fernandez, C. C., Curtis-Martinez, C., Fortmann, C., Kim, C., Galeano, C. U., Barroso, C., Baldi, C., Foppa, C., Formisano, C., Li, C., Ding, C., Wang, C., Iacusso, C., Yang, C., Pizzera, C., Skias, C., Chouliras, C., Liakos, C., Matsuda, C., Wu, C. -Y., Ozaslan, C., Tanda, C., Tommaso, C. M., Dagorno, C., Ramos, C. P. A., Arcudi, C., Coco, C., Morales, C. M., Ali, M. Z., De Azevedo, C. T. M., Lozano, C. C., Sala, C., Leo, C. A., Scarpa, C. R., Ferro, C. V., Fernandez, C. M., Morales-Garcia, D., Nakano, D., Cristian, D., Hechtl, D., Canovas, D. T., Calabrese, D., Rega, D., Ferraro, D., Morezzi, D., Sommacale, D., Brogden, D., Miskovic, D., Merlini, D., Pertile, D., Coniglio, D., Zhu, D., Wu, D., Coletta, D., Rubio, D. R., Sasia, D., Fillipov, D., Russiello, D., Dardanov, D., Consten, E. C. J., Smolskas, E., Muttillo, E. M., Jones, E., Sunami, E., Etienne, E. -H., Chalkiadaki, E., Giacomelli, E., Karbovnichaya, E., Ruiz-Ucar, E., Guaitoli, E., Samadov, E., Jovine, E., Treppiedi, E., Vaterlini, E. M., Zambaiti, E., Moggia, E., Coetzee, E., Chisari, E., D'Errico, E., Ciofic, E., Pena, E., Kurt, E., Balik, E., Gunay, E., Sivrikoz, E., Andolfi, E., Araimo, E., Lucci, E., Opocher, E., Pinotti, E., Rubino, E., Reyhan, E., Mazzotta, E., Navarro, E. B., El-Helou, E., Licardie-Bolanos, E., Porto, E. I., Contreras, E., Boerma, E. -J., Cianchi, F., Marino, F., Uggeri, F., Han, F., Calculli, F., Falaschi, F., Ghignone, F., Perrone, F., Borghi, F., Garcia, F., Agresta, F., Cananzi, F. C. M., Mendoza-Moreno, F., Cengiz, F., Almeida, F. M., Baracchi, F., Carannante, F., Torre, F. L., Fernandes, F., Friedmacher, F., Grama, F., Carissimi, F., Pecchini, F., Bianco, F., Colombo, F., Ferrara, F., Litta, F., Carrano, F. M., Martignoni, F., Tasselli, F. M., Milone, F., Pata, F., Sammartino, F., Zambianchi, F., Barragan, F., Herrero, F., Schlottmann, F., Den Boer, F. C., Pfeffer, F., Fujita, F., Navarra, G., Herrera-Almario, G., Pozzo, G., Capolupo, G. T., Van Ramshorst, G. H., Liscia, G., Gallo, G., Asawa, G., Wang, G., Raiyani, G., Beets, G., Naval, G. S., Jin, G., Chang, G. J., Saakian, G., Kahane, G., Borroni, G., Secco, G. L., Baiocchi, G. L., Baronio, G., Pagano, G., Pattacini, G. C., Lisi, G., Milito, G., Sinibaldi, G., Serrao, G., Bagaglini, G., Sarro, G., Brisinda, Giuseppe, Candilio, G., Mangiameli, G., Giuliani, G., Martin-Martin, G. P., Bodzin, G., Leon, G., Mackay, G., Vasil, G., Palmisano, G., Giovanna, G. M., Fernandez, G. C., Steingel, G. B., Zhang, G., Choi, G. S., Chen, H., Hirose, H., Kayano, H., Ulgur, H. S., Impellizzeri, H., Ariola, H., Liu, H., Medina, H., Miyauchi, H., Takahashi, H., Hayashi, H., Ishikawa, H., Ishida, H., De Vries, H., Ulman, H., Kon, H., Ota, H., Akamatsu, H., Tamagawa, H., Shoji, H., Egi, H., Matsubara, H., Miki, H., Elfeki, H., Lin, H. -H., Giani, I., Caravaca-Garcia, I., Takemasa, I., Angriman, I., Negoi, I., Volkova, I., Russo, I., Kronberger, I. E., Shageev, I., Aydin, I., Guzman, I. M., Novak, I., Giuliano, I., Rachmuth, J., Ngu, J. C. -Y., Glasbey, J., Stoot, J., Zatecky, J., Melenhorst, J., Van Der Wal, J. B. C., Leijtens, J., Bogach, J., Elliott, J., De Wilt, J. H. W., Han, J., Cui, J., Liu, J., Khan, J., Wirawan, J. P., Zhang, J., Manyari, J. D. O., Doerner, J., Bock, J., Konsten, J., Castro, J. M., Grobas, J. P., Pinto, J. P., Juloski, J., Laina, J. L. B., Solorzano, J. J., Lopez, J. R. G., Li, J., Watanabe, J., Kwak, J. -M., Hasegawa, J., Hiro, J., Sergey, K., Zhang, K., Nagahori, K., Martinez, K., Tokuhara, K., Danno, K., Uehara, K., Yoshimatsu, K., Ehara, K., Ueda, K., Suda, K., Yamamoto, K., Ishimaru, K., Kimura, K., Hirata, K., Deen, K., Imaizumi, K., Yamada, J., Tanakura, K., Rida, K., Sugimoto, K., Kotaro, K., Shi, K., Okabayashi, K., Hida, K., Kataoka, K., Hongo, K., Xia, K., Tseng, L., Reime, L., Lorenzon, L., Ruano, L. M., Zhou, L., De Nes, L., Brandariz, L., Morini, L., Petagna, L., Ripamonti, L., Martinez, L. H., Pio, L., Sacco, L., Carvalho, L., Zorcolo, L., Perez-Sanchez, L. E., Esparza, L. H. R., Aguilar, L. T., Garner, M., Sugimoto, M., Nagashima, M., Shiozawa, M., Simone, M., Ferrer-Marquez, M., Carvalho, M., Alifano, M., Arganini, M., Calussi, M., Catarci, M., Allaix, M. E., Forlin, M., Milone, M., Paci, M., Fodor, M., Antipova, M., Martos, M. B., Giuffrida, M. C., Tabernilla, M. D., Quiros, M. J. A., Lemma, M., Correo, M. L. R. D., Malowiecka, M., Bellomo, M. P., Fernandez, M. R., Socias, M., Rizk, M., Aurora, M., Antolinez, M. A., Ninkovic, M., Giuffrida, M., Leeuwenburgh, M. M. N., De Roos, M. A. J., Lara, M. C., Agustin, M. C., Cuadrado, M., Pascual, M., Lemmerer, M., Carlos, R., Okamoto, M., Miyo, M., Inomata, M., Ikenaga, M., Tsujie, M., Yasuno, M., Kotake, M., Sato, M., Yasui, M., Lavazza, M., Rottoli, M., Zuin, M., Zuluaga, M., Cervellera, M., Cesari, M., Zizzo, M., Garino, M., Ghirardi, M., Montuori, M., Podda, M., Santarelli, M., Koc, M. A., Baini, M., De Cillia, M., Campanelli, M., De Rosa, M., Manigrasso, M., Zuolo, M., Cunha, M. F., Misca, M., Slavchev, M., Danilov, M., Shigaev, M., Martens, M., Kobayashi, M., Ren, M., Ishizuka, M., Hassan, M. M., Siblini, M., Sahloul, M., Keramati, M. R., Karunakaran, M., Markel, M., Majeed, M., Younis, M. U., Akin, M. I., Laraibe, M., Derebey, M., Kendirci, M., Fukunaga, M., Matsubara, N., Ordaz, N. E. C., Samalavicius, N. E., Keeratibharat, N., De Angelis, N., Gica, N., Mariani, N. M., Ramino, N., Falco, N., Smart, N., De Korte, N., Kok, N. F. M., Jamieson, N. B., Aberyasev, N., Bruklich, N., Ichikawa, N., Miyoshi, N., De Palma, N., Figueiredo, N., Torrecilla, N. O., Dybov, O. G., Yudin, O., Crepin, O., Gomez, O., Sert, O. Z., Lominchar, P. L., Menendez, P., De Nardi, P., Tejedor, P., Jordan, P., Tan, P., Marsanic, P., Natalya, P., Banos, P. P., Rebasa, P., Neary, P. M., Tanis, P., Giustacchini, P., Anoldo, P., Concejo, P., Cao, P., Chandrasinghe, P., Abeyratne, P., Wang, Q., Klicks, R. J., Mukai, R., Riquelme, R. F., De Luca, R., Galli, R., Gianesini, R., Moorjani, R. G., Deshpande, R. K., Gorter, R., Ledesma, R. L., Ruslan, R., Chhabra, R., Talreja-Pelaez, R., Suzuki, R., Balestri, R., Rosati, R., Kiblawi, R., Martins, R., Angelico, R., Tutino, R., Persiani, R., Pollastri, R., Lopez, R. G., Perez, R. O., Hompes, R., Lukanin, R., Roser Termes Serra, R., Brunaccino, R., Nakanishi, R., Stefan, S., Hernandez, S. P. S., Carlo, S. D., Ingallinella, S., Domoto, S., Ikeda, S., Mikalauskas, S., Kim, S. H., Mantova, S., Barbuta, S., Li, S., Yamaguchi, S., Yamagishi, S., Homma, S., Tsujinaka, S., Yoshioka, S., Mori, S., Tewari, S., Rayman, S., Horiuchi, S., Matoba, S., Morita, S., Yaman, S., Vigna, S., Testa, S., Ng, S., Deidda, S., Cicconi, S., Maria, S. D., Sibio, S., Ersoz, S., Pejkova, S., Altarifi, S., He, S., Malakorn, S., Meindert, S., Sumikawa, S., Parmar, S., Uranitsch, S., D'Ugo, S., Giuliani, S., Breukink, S., Lee, S. -H., Hata, T., Ishikawa, T., Akiyoshi, T., Azuma, T., Kobatake, T., Fukuzaki, T., Aiyama, T., Yamada, T., Garmanova, T., Gomez-Sanchez, T., Yamaguchi, T., De Jesus Flores, T., Usub, T., Tsuruma, T., Shimizu, T., Hristov, T. G., Van Loon, T., Funakoshi, T., Manzia, T. M., Kiyomatsu, T., Katayama, T., Akagi, T., Mizushima, T., Kazuhito, U., Elmore, U., Grossi, U., Truchalev, V. A., Rodriguez, V. S., Testa, V., Tonini, V., Celentano, V., Nekoval, V. M., Bettencourt, V., Mammadov, V., Leyva, V. A. G., Mariscal, V. G. O., Seid, V. E., Klemann, V., Turrado-Rodriguez, V., Papagni, V., Vento, V., Frering, V., Vigorita, V., Petrove, V. V., Lyadov, V., Fu, W., Mi, W., Jeong, W. K., Leclercq, W. K. G., De Sousa, X., Zhao, X., Li, X., Wang, X., Yang, X., Zhang, X., Zhen, Y., Dong, Y., Erushevich, Y., Takii, Y., Sumi, Y., Loli, Y. T., Yifat, Y. L., Shimada, Y., Nabeya, Y., Ide, Y., Wu, Y., Tsukada, Y., Miyamoto, Y., Toiyama, Y., Fujie, Y., Kaneko, Y., Mokutani, Y., Fujii, Y., Kanemitsu, Y., Medkova, Y., Chen, Y., Ruiz, Y. G., Kinugasa, Y., Sow, Z., Razzaq, Z., Wang, Z., Liu, Z., Han, Z., Tai, Z., Lai, Z., Ng, Z. Q., Dambrauskas, Z., Ratto C. (ORCID:0000-0002-0556-0037), Brisinda G. (ORCID:0000-0001-8820-9471), An, Y., Bellato, V., Konishi, T., Pellino, G., Sensi, B., Siragusa, L., Franceschilli, M., Sica, G. S., Kefleyesus, A., Hoofwijk, A. G. M., Eldaly, A. S., Gonzalez, A., Jawad, A., Jooma, A., Hafez, A. M., Rubio, A. V., Landaluce-Olavarria, A., Wu, A., Nagatsu, A., Inoue, A., Kanamoto, A., Ouchi, A., El-Hussuna, A., Vazquez-Melero, A., Wolthuis, A. M., Peral, A. M., Lozano, A. C., Efremov, A., Ryasantsev, A. V., Giorgio, A. D., Parente, A., Tamburrini, A., Alo, A., Forero-Torres, A., Vahrmeijer, A. L., Varabei, A., Hinojosa, S., Balkan, A. Z. A., Frontali, A., Oleg, A., Soler-Silva, A., Makni, A., Andre, A., Cabrera, A. M. G., Fernandez, A. M. G., Minaya-Bravo, A. M., Rodriguez-Sanchez, A., Musina, A. -M., Pangeni, A., Zolotko, A., Tonoyan, A., Balla, A., Belli, A., Cavallaro, A., Chierici, A., Divizia, A., Bucci, A. F., Salido, A. J., Morini, A., Muratore, A., Vignali, A., Chitul, A., Sebastian, D. A., Pcolkins, A., Shchegolev, A., Hollenbeck, A., Wisneski, A., Iossa, A., D'Amore, A., Hunter, A., Hesketh, A. J., Brocca, A. L., Spinelli, A., Caires, A., D'Alessandro, A., Correo, A. F. S. L., Macri, A., Navarro-Sanchez, A., Pronk, A., Akunc, A., Mehri, A., Pelta, A., Papadopoulos, A., Kechagias, A., Rashid, A., Ramazanov, A., Chandio, A., Kohyama, A., Nishimura, A., Ohkawa, A., Dulskas, A., Jamal, A., Mariani, A., Unal, A. G., Karagoz, A., Ozkan, B. B., Salih, B., Gulcu, B., Pessia, B., Martin-Perez, B., Ielpo, B., Tulelli, B., Yang, B., Mhamed, B., Murphy, B., Pirozzi, B. M., Langenhoff, B., Belevi, B., Guney, B., Ng, C., Rueda, C., Roxburgh, C. S., Feo, C. V., Ferrari, C., Gazia, C., Pratesi, C., Ratto, Carlo, Santacruz, C. C., Arroyave, C. R. M., Macias, C., Fernandez, C. G., Fernandez, C. C., Curtis-Martinez, C., Fortmann, C., Kim, C., Galeano, C. U., Barroso, C., Baldi, C., Foppa, C., Formisano, C., Li, C., Ding, C., Wang, C., Iacusso, C., Yang, C., Pizzera, C., Skias, C., Chouliras, C., Liakos, C., Matsuda, C., Wu, C. -Y., Ozaslan, C., Tanda, C., Tommaso, C. M., Dagorno, C., Ramos, C. P. A., Arcudi, C., Coco, C., Morales, C. M., Ali, M. Z., De Azevedo, C. T. M., Lozano, C. C., Sala, C., Leo, C. A., Scarpa, C. R., Ferro, C. V., Fernandez, C. M., Morales-Garcia, D., Nakano, D., Cristian, D., Hechtl, D., Canovas, D. T., Calabrese, D., Rega, D., Ferraro, D., Morezzi, D., Sommacale, D., Brogden, D., Miskovic, D., Merlini, D., Pertile, D., Coniglio, D., Zhu, D., Wu, D., Coletta, D., Rubio, D. R., Sasia, D., Fillipov, D., Russiello, D., Dardanov, D., Consten, E. C. J., Smolskas, E., Muttillo, E. M., Jones, E., Sunami, E., Etienne, E. -H., Chalkiadaki, E., Giacomelli, E., Karbovnichaya, E., Ruiz-Ucar, E., Guaitoli, E., Samadov, E., Jovine, E., Treppiedi, E., Vaterlini, E. M., Zambaiti, E., Moggia, E., Coetzee, E., Chisari, E., D'Errico, E., Ciofic, E., Pena, E., Kurt, E., Balik, E., Gunay, E., Sivrikoz, E., Andolfi, E., Araimo, E., Lucci, E., Opocher, E., Pinotti, E., Rubino, E., Reyhan, E., Mazzotta, E., Navarro, E. B., El-Helou, E., Licardie-Bolanos, E., Porto, E. I., Contreras, E., Boerma, E. -J., Cianchi, F., Marino, F., Uggeri, F., Han, F., Calculli, F., Falaschi, F., Ghignone, F., Perrone, F., Borghi, F., Garcia, F., Agresta, F., Cananzi, F. C. M., Mendoza-Moreno, F., Cengiz, F., Almeida, F. M., Baracchi, F., Carannante, F., Torre, F. L., Fernandes, F., Friedmacher, F., Grama, F., Carissimi, F., Pecchini, F., Bianco, F., Colombo, F., Ferrara, F., Litta, F., Carrano, F. M., Martignoni, F., Tasselli, F. M., Milone, F., Pata, F., Sammartino, F., Zambianchi, F., Barragan, F., Herrero, F., Schlottmann, F., Den Boer, F. C., Pfeffer, F., Fujita, F., Navarra, G., Herrera-Almario, G., Pozzo, G., Capolupo, G. T., Van Ramshorst, G. H., Liscia, G., Gallo, G., Asawa, G., Wang, G., Raiyani, G., Beets, G., Naval, G. S., Jin, G., Chang, G. J., Saakian, G., Kahane, G., Borroni, G., Secco, G. L., Baiocchi, G. L., Baronio, G., Pagano, G., Pattacini, G. C., Lisi, G., Milito, G., Sinibaldi, G., Serrao, G., Bagaglini, G., Sarro, G., Brisinda, Giuseppe, Candilio, G., Mangiameli, G., Giuliani, G., Martin-Martin, G. P., Bodzin, G., Leon, G., Mackay, G., Vasil, G., Palmisano, G., Giovanna, G. M., Fernandez, G. C., Steingel, G. B., Zhang, G., Choi, G. S., Chen, H., Hirose, H., Kayano, H., Ulgur, H. S., Impellizzeri, H., Ariola, H., Liu, H., Medina, H., Miyauchi, H., Takahashi, H., Hayashi, H., Ishikawa, H., Ishida, H., De Vries, H., Ulman, H., Kon, H., Ota, H., Akamatsu, H., Tamagawa, H., Shoji, H., Egi, H., Matsubara, H., Miki, H., Elfeki, H., Lin, H. -H., Giani, I., Caravaca-Garcia, I., Takemasa, I., Angriman, I., Negoi, I., Volkova, I., Russo, I., Kronberger, I. E., Shageev, I., Aydin, I., Guzman, I. M., Novak, I., Giuliano, I., Rachmuth, J., Ngu, J. C. -Y., Glasbey, J., Stoot, J., Zatecky, J., Melenhorst, J., Van Der Wal, J. B. C., Leijtens, J., Bogach, J., Elliott, J., De Wilt, J. H. W., Han, J., Cui, J., Liu, J., Khan, J., Wirawan, J. P., Zhang, J., Manyari, J. D. O., Doerner, J., Bock, J., Konsten, J., Castro, J. M., Grobas, J. P., Pinto, J. P., Juloski, J., Laina, J. L. B., Solorzano, J. J., Lopez, J. R. G., Li, J., Watanabe, J., Kwak, J. -M., Hasegawa, J., Hiro, J., Sergey, K., Zhang, K., Nagahori, K., Martinez, K., Tokuhara, K., Danno, K., Uehara, K., Yoshimatsu, K., Ehara, K., Ueda, K., Suda, K., Yamamoto, K., Ishimaru, K., Kimura, K., Hirata, K., Deen, K., Imaizumi, K., Yamada, J., Tanakura, K., Rida, K., Sugimoto, K., Kotaro, K., Shi, K., Okabayashi, K., Hida, K., Kataoka, K., Hongo, K., Xia, K., Tseng, L., Reime, L., Lorenzon, L., Ruano, L. M., Zhou, L., De Nes, L., Brandariz, L., Morini, L., Petagna, L., Ripamonti, L., Martinez, L. H., Pio, L., Sacco, L., Carvalho, L., Zorcolo, L., Perez-Sanchez, L. E., Esparza, L. H. R., Aguilar, L. T., Garner, M., Sugimoto, M., Nagashima, M., Shiozawa, M., Simone, M., Ferrer-Marquez, M., Carvalho, M., Alifano, M., Arganini, M., Calussi, M., Catarci, M., Allaix, M. E., Forlin, M., Milone, M., Paci, M., Fodor, M., Antipova, M., Martos, M. B., Giuffrida, M. C., Tabernilla, M. D., Quiros, M. J. A., Lemma, M., Correo, M. L. R. D., Malowiecka, M., Bellomo, M. P., Fernandez, M. R., Socias, M., Rizk, M., Aurora, M., Antolinez, M. A., Ninkovic, M., Giuffrida, M., Leeuwenburgh, M. M. N., De Roos, M. A. J., Lara, M. C., Agustin, M. C., Cuadrado, M., Pascual, M., Lemmerer, M., Carlos, R., Okamoto, M., Miyo, M., Inomata, M., Ikenaga, M., Tsujie, M., Yasuno, M., Kotake, M., Sato, M., Yasui, M., Lavazza, M., Rottoli, M., Zuin, M., Zuluaga, M., Cervellera, M., Cesari, M., Zizzo, M., Garino, M., Ghirardi, M., Montuori, M., Podda, M., Santarelli, M., Koc, M. A., Baini, M., De Cillia, M., Campanelli, M., De Rosa, M., Manigrasso, M., Zuolo, M., Cunha, M. F., Misca, M., Slavchev, M., Danilov, M., Shigaev, M., Martens, M., Kobayashi, M., Ren, M., Ishizuka, M., Hassan, M. M., Siblini, M., Sahloul, M., Keramati, M. R., Karunakaran, M., Markel, M., Majeed, M., Younis, M. U., Akin, M. I., Laraibe, M., Derebey, M., Kendirci, M., Fukunaga, M., Matsubara, N., Ordaz, N. E. C., Samalavicius, N. E., Keeratibharat, N., De Angelis, N., Gica, N., Mariani, N. M., Ramino, N., Falco, N., Smart, N., De Korte, N., Kok, N. F. M., Jamieson, N. B., Aberyasev, N., Bruklich, N., Ichikawa, N., Miyoshi, N., De Palma, N., Figueiredo, N., Torrecilla, N. O., Dybov, O. G., Yudin, O., Crepin, O., Gomez, O., Sert, O. Z., Lominchar, P. L., Menendez, P., De Nardi, P., Tejedor, P., Jordan, P., Tan, P., Marsanic, P., Natalya, P., Banos, P. P., Rebasa, P., Neary, P. M., Tanis, P., Giustacchini, P., Anoldo, P., Concejo, P., Cao, P., Chandrasinghe, P., Abeyratne, P., Wang, Q., Klicks, R. J., Mukai, R., Riquelme, R. F., De Luca, R., Galli, R., Gianesini, R., Moorjani, R. G., Deshpande, R. K., Gorter, R., Ledesma, R. L., Ruslan, R., Chhabra, R., Talreja-Pelaez, R., Suzuki, R., Balestri, R., Rosati, R., Kiblawi, R., Martins, R., Angelico, R., Tutino, R., Persiani, R., Pollastri, R., Lopez, R. G., Perez, R. O., Hompes, R., Lukanin, R., Roser Termes Serra, R., Brunaccino, R., Nakanishi, R., Stefan, S., Hernandez, S. P. S., Carlo, S. D., Ingallinella, S., Domoto, S., Ikeda, S., Mikalauskas, S., Kim, S. H., Mantova, S., Barbuta, S., Li, S., Yamaguchi, S., Yamagishi, S., Homma, S., Tsujinaka, S., Yoshioka, S., Mori, S., Tewari, S., Rayman, S., Horiuchi, S., Matoba, S., Morita, S., Yaman, S., Vigna, S., Testa, S., Ng, S., Deidda, S., Cicconi, S., Maria, S. D., Sibio, S., Ersoz, S., Pejkova, S., Altarifi, S., He, S., Malakorn, S., Meindert, S., Sumikawa, S., Parmar, S., Uranitsch, S., D'Ugo, S., Giuliani, S., Breukink, S., Lee, S. -H., Hata, T., Ishikawa, T., Akiyoshi, T., Azuma, T., Kobatake, T., Fukuzaki, T., Aiyama, T., Yamada, T., Garmanova, T., Gomez-Sanchez, T., Yamaguchi, T., De Jesus Flores, T., Usub, T., Tsuruma, T., Shimizu, T., Hristov, T. G., Van Loon, T., Funakoshi, T., Manzia, T. M., Kiyomatsu, T., Katayama, T., Akagi, T., Mizushima, T., Kazuhito, U., Elmore, U., Grossi, U., Truchalev, V. A., Rodriguez, V. S., Testa, V., Tonini, V., Celentano, V., Nekoval, V. M., Bettencourt, V., Mammadov, V., Leyva, V. A. G., Mariscal, V. G. O., Seid, V. E., Klemann, V., Turrado-Rodriguez, V., Papagni, V., Vento, V., Frering, V., Vigorita, V., Petrove, V. V., Lyadov, V., Fu, W., Mi, W., Jeong, W. K., Leclercq, W. K. G., De Sousa, X., Zhao, X., Li, X., Wang, X., Yang, X., Zhang, X., Zhen, Y., Dong, Y., Erushevich, Y., Takii, Y., Sumi, Y., Loli, Y. T., Yifat, Y. L., Shimada, Y., Nabeya, Y., Ide, Y., Wu, Y., Tsukada, Y., Miyamoto, Y., Toiyama, Y., Fujie, Y., Kaneko, Y., Mokutani, Y., Fujii, Y., Kanemitsu, Y., Medkova, Y., Chen, Y., Ruiz, Y. G., Kinugasa, Y., Sow, Z., Razzaq, Z., Wang, Z., Liu, Z., Han, Z., Tai, Z., Lai, Z., Ng, Z. Q., Dambrauskas, Z., Ratto C. (ORCID:0000-0002-0556-0037), and Brisinda G. (ORCID:0000-0001-8820-9471)
- Abstract
Not available
- Published
- 2020
25. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
- Author
-
Guo, Hui, Li, Ying, Shen, L., Wang, T., Jia, X., Liu, L.J., Vries, B.B.A. de, Eichler, E.E., Xia, K., Guo, Hui, Li, Ying, Shen, L., Wang, T., Jia, X., Liu, L.J., Vries, B.B.A. de, Eichler, E.E., and Xia, K.
- Abstract
Contains fulltext : 214597.pdf (publisher's version ) (Open Access)
- Published
- 2019
26. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
- Author
-
Guo, H. (Hui), Li, Y. (Ying), Shen, L. (Lu), Wang, T. (Tianyun), Jia, X. (Xiangbin), Liu, L. (Lijuan), Xu, T. (Tao), Ou, M. (Mengzhu), Hoekzema, K. (Kendra), Wu, H. (Huidan), Gillentine, M.A. (Madelyn A.), Liu, C. (Cenying), Ni, H. (Hailun), Peng, P. (Pengwei), Zhao, R. (Rongjuan), Zhang, Y. (Yu), Phornphutkul, C. (Chanika), Stegmann, A.P.A. (Alexander P.A.), Prada, C.E. (C.), Hopkin, R., Shieh, J.T. (Joseph T.), McWalter, K. (Kirsty), Monaghan, K.G. (Kristin G.), Hasselt, P.M. (Peter) van, van Gassen, K. (Koen), Bai, T. (Ting), Long, M. (Min), Han, L. (Lin), Quan, Y. (Yingting), Chen, M. (Meilin), Zhang, Y. (Yaowen), Li, K. (Kuokuo), Zhang, Q. (Qiumeng), Tan, J. (Jieqiong), Zhu, T. (Tengfei), Liu, Y. (Yaning), Pang, N. (Nan), Peng, J. (Jing), Scott, D.A., Lalani, S.R. (Seema R.), Azamian, M. (Mahshid), Mancini, G.M.S. (Grazia), Adams, D.J. (Darius J.), Kvarnung, M. (Malin), Lindstrand, A. (Anna), Nordgren, A. (Ann), Pevsner, J. (Jonathan), Osei-Owusu, I.A. (Ikeoluwa A.), Romano, C. (Corrado), Calabrese, G. (Giuseppe), Galesi, O. (O.), Gecz, J. (Jozef), Haan, E. (Eric), Ranells, J. (Judith), Racobaldo, M. (Melissa), Nordenskjöld, M., Madan-Khetarpal, S. (Suneeta), Sebastian, J. (Jessica), Ball, S. (Susie), Zou, X. (Xiaobing), Zhao, J. (Jingping), Hu, Z. (Zhengmao), Xia, F. (Fan), Liu, P. (Pengfei), Rosenfeld, J.A. (Jill), Vries, B. (Boukje) de, Bernier, R.A. (Raphael A.), Xu, Z.-Q.D. (Zhi-Qing David), Li, H. (Honghui), Xie, W. (Wei), Hufnagel, R.B. (Robert B.), Eichler, E.E. (Evan), Xia, K. (Kun), Guo, H. (Hui), Li, Y. (Ying), Shen, L. (Lu), Wang, T. (Tianyun), Jia, X. (Xiangbin), Liu, L. (Lijuan), Xu, T. (Tao), Ou, M. (Mengzhu), Hoekzema, K. (Kendra), Wu, H. (Huidan), Gillentine, M.A. (Madelyn A.), Liu, C. (Cenying), Ni, H. (Hailun), Peng, P. (Pengwei), Zhao, R. (Rongjuan), Zhang, Y. (Yu), Phornphutkul, C. (Chanika), Stegmann, A.P.A. (Alexander P.A.), Prada, C.E. (C.), Hopkin, R., Shieh, J.T. (Joseph T.), McWalter, K. (Kirsty), Monaghan, K.G. (Kristin G.), Hasselt, P.M. (Peter) van, van Gassen, K. (Koen), Bai, T. (Ting), Long, M. (Min), Han, L. (Lin), Quan, Y. (Yingting), Chen, M. (Meilin), Zhang, Y. (Yaowen), Li, K. (Kuokuo), Zhang, Q. (Qiumeng), Tan, J. (Jieqiong), Zhu, T. (Tengfei), Liu, Y. (Yaning), Pang, N. (Nan), Peng, J. (Jing), Scott, D.A., Lalani, S.R. (Seema R.), Azamian, M. (Mahshid), Mancini, G.M.S. (Grazia), Adams, D.J. (Darius J.), Kvarnung, M. (Malin), Lindstrand, A. (Anna), Nordgren, A. (Ann), Pevsner, J. (Jonathan), Osei-Owusu, I.A. (Ikeoluwa A.), Romano, C. (Corrado), Calabrese, G. (Giuseppe), Galesi, O. (O.), Gecz, J. (Jozef), Haan, E. (Eric), Ranells, J. (Judith), Racobaldo, M. (Melissa), Nordenskjöld, M., Madan-Khetarpal, S. (Suneeta), Sebastian, J. (Jessica), Ball, S. (Susie), Zou, X. (Xiaobing), Zhao, J. (Jingping), Hu, Z. (Zhengmao), Xia, F. (Fan), Liu, P. (Pengfei), Rosenfeld, J.A. (Jill), Vries, B. (Boukje) de, Bernier, R.A. (Raphael A.), Xu, Z.-Q.D. (Zhi-Qing David), Li, H. (Honghui), Xie, W. (Wei), Hufnagel, R.B. (Robert B.), Eichler, E.E. (Evan), and Xia, K. (Kun)
- Abstract
RNA binding proteins are key players in posttranscriptional regulation and have been implicated in neurodevelopmental and neuropsychiatric disorders. Here, we report a significant burden of heterozygous, likely genedisrupting variants in CSDE1 (encoding a highly constrained RNA binding protein) among patients with autism and related neurodevelopmental disabilities. Analysis of 17 patients identifies common phenotypes including autism, intellectual disability, language and motor delay, seizures, macrocephaly, and variable ocular abnormalities. HITSCLIP revealed that Csde1binding targets are enriched in autismassociated gene sets, especially FMRP targets, and in neuronal development and synaptic plasticity–related pathways. Csde1 knockdown in primary mouse cortical neurons leads to an overgrowth of the neurites and abnormal dendritic spine morphology/synapse formation and impaired synaptic transmission, whereas mutant and knockdown experiments in Drosophila result in defects in synapse growth and synaptic transmission. Our study defines a new autismrelated syndrome and highlights the functional role of CSDE1 in synapse development and synaptic transmission.
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- 2019
- Full Text
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27. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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Salpietro, V, Dixon, CL, Guo, H, Bello, OD, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Mannikko, R, Manole, A, Brusco, A, Grosso, E, Ferrero, GB, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, KG, Santiago-Sim, T, Person, RE, Cho, MT, Willaert, R, Yoo, Y, Chae, J-H, Quan, Y, Wu, H, Wang, T, Bernier, RA, Xia, K, Blesson, A, Jain, M, Motazacker, MM, Jaeger, B, Schneider, AL, Boysen, K, Muir, AM, Myers, CT, Gavrilova, RH, Gunderson, L, Schultz-Rogers, L, Klee, EW, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Penas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, JN, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, HC, Scheffer, IE, Clayton-Smith, J, Macaya, A, Rothman, JE, Eichler, EE, Kullmann, DM, Houlden, H, Raspall-Chaure, M, Hanna, MG, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E, Yau, WY, Bourinaris, T, Kaiyrzhanov, R, Chelban, V, Madej, M, Diana, MC, Vari, MS, Pedemonte, M, Bruno, C, Balagura, G, Scala, M, Fiorillo, C, Nobili, L, Malintan, NT, Zanetti, MN, Krishnakumar, SS, Lignani, G, Jepson, JEC, Broda, P, Baldassari, S, Rossi, P, Fruscione, F, Madia, F, Traverso, M, De-Marco, P, Perez-Duenas, B, Munell, F, Kriouile, Y, El-Khorassani, M, Karashova, B, Avdjieva, D, Kathom, H, Tincheva, R, Van-Maldergem, L, Nachbauer, W, Boesch, S, Gagliano, A, Amadori, E, Goraya, JS, Sultan, T, Kirmani, S, Ibrahim, S, Jan, F, Mine, J, Banu, S, Veggiotti, P, Zuccotti, G, Ferrari, MD, Van Den Maagdenberg, AMJ, Verrotti, A, Marseglia, GL, Savasta, S, Soler, MA, Scuderi, C, Borgione, E, Chimenz, R, Gitto, E, Dipasquale, V, Sallemi, A, Fusco, M, Cuppari, C, Cutrupi, MC, Ruggieri, M, Cama, A, Capra, V, Mencacci, NE, Boles, R, Gupta, N, Kabra, M, Papacostas, S, Zamba-Papanicolaou, E, Dardiotis, E, Maqbool, S, Rana, N, Atawneh, O, Lim, SY, Shaikh, F, Koutsis, G, Breza, M, Coviello, DA, Dauvilliers, YA, AlKhawaja, I, AlKhawaja, M, Al-Mutairi, F, Stojkovic, T, Ferrucci, V, Zollo, M, Alkuraya, FS, Kinali, M, Sherifa, H, Benrhouma, H, Turki, IBY, Tazir, M, Obeid, M, Bakhtadze, S, Saadi, NW, Zaki, MS, Triki, CC, Benfenati, F, Gustincich, S, Kara, M, Belcastro, V, Specchio, N, Capovilla, G, Karimiani, EG, Salih, AM, Okubadejo, NU, Ojo, OO, Oshinaike, OO, Oguntunde, O, Wahab, K, Bello, AH, Abubakar, S, Obiabo, Y, Nwazor, E, Ekenze, O, Williams, U, Iyagba, A, Taiwo, L, Komolafe, M, Senkevich, K, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Rossi, S, Silvestri, G, Haridy, N, Ramenghi, LA, Xiromerisiou, G, David, E, Aguennouz, M, Fidani, L, Spanaki, C, Tucci, A, Salpietro, V, Dixon, CL, Guo, H, Bello, OD, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Mannikko, R, Manole, A, Brusco, A, Grosso, E, Ferrero, GB, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, KG, Santiago-Sim, T, Person, RE, Cho, MT, Willaert, R, Yoo, Y, Chae, J-H, Quan, Y, Wu, H, Wang, T, Bernier, RA, Xia, K, Blesson, A, Jain, M, Motazacker, MM, Jaeger, B, Schneider, AL, Boysen, K, Muir, AM, Myers, CT, Gavrilova, RH, Gunderson, L, Schultz-Rogers, L, Klee, EW, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Penas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, JN, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, HC, Scheffer, IE, Clayton-Smith, J, Macaya, A, Rothman, JE, Eichler, EE, Kullmann, DM, Houlden, H, Raspall-Chaure, M, Hanna, MG, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E, Yau, WY, Bourinaris, T, Kaiyrzhanov, R, Chelban, V, Madej, M, Diana, MC, Vari, MS, Pedemonte, M, Bruno, C, Balagura, G, Scala, M, Fiorillo, C, Nobili, L, Malintan, NT, Zanetti, MN, Krishnakumar, SS, Lignani, G, Jepson, JEC, Broda, P, Baldassari, S, Rossi, P, Fruscione, F, Madia, F, Traverso, M, De-Marco, P, Perez-Duenas, B, Munell, F, Kriouile, Y, El-Khorassani, M, Karashova, B, Avdjieva, D, Kathom, H, Tincheva, R, Van-Maldergem, L, Nachbauer, W, Boesch, S, Gagliano, A, Amadori, E, Goraya, JS, Sultan, T, Kirmani, S, Ibrahim, S, Jan, F, Mine, J, Banu, S, Veggiotti, P, Zuccotti, G, Ferrari, MD, Van Den Maagdenberg, AMJ, Verrotti, A, Marseglia, GL, Savasta, S, Soler, MA, Scuderi, C, Borgione, E, Chimenz, R, Gitto, E, Dipasquale, V, Sallemi, A, Fusco, M, Cuppari, C, Cutrupi, MC, Ruggieri, M, Cama, A, Capra, V, Mencacci, NE, Boles, R, Gupta, N, Kabra, M, Papacostas, S, Zamba-Papanicolaou, E, Dardiotis, E, Maqbool, S, Rana, N, Atawneh, O, Lim, SY, Shaikh, F, Koutsis, G, Breza, M, Coviello, DA, Dauvilliers, YA, AlKhawaja, I, AlKhawaja, M, Al-Mutairi, F, Stojkovic, T, Ferrucci, V, Zollo, M, Alkuraya, FS, Kinali, M, Sherifa, H, Benrhouma, H, Turki, IBY, Tazir, M, Obeid, M, Bakhtadze, S, Saadi, NW, Zaki, MS, Triki, CC, Benfenati, F, Gustincich, S, Kara, M, Belcastro, V, Specchio, N, Capovilla, G, Karimiani, EG, Salih, AM, Okubadejo, NU, Ojo, OO, Oshinaike, OO, Oguntunde, O, Wahab, K, Bello, AH, Abubakar, S, Obiabo, Y, Nwazor, E, Ekenze, O, Williams, U, Iyagba, A, Taiwo, L, Komolafe, M, Senkevich, K, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Rossi, S, Silvestri, G, Haridy, N, Ramenghi, LA, Xiromerisiou, G, David, E, Aguennouz, M, Fidani, L, Spanaki, C, and Tucci, A
- Abstract
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
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- 2019
28. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
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Guo, H, Bettella, E, Marcogliese, PC, Zhao, R, Andrews, JC, Nowakowski, TJ, Gillentine, MA, Hoekzema, K, Wang, T, Wu, H, Jangam, S, Liu, C, Ni, H, Willemsen, MH, van Bon, BW, Rinne, T, Stevens, SJC, Kleefstra, T, Brunner, HG, Yntema, HG, Long, M, Zhao, W, Hu, Z, Colson, C, Richard, N, Schwartz, CE, Romano, C, Castiglia, L, Bottitta, M, Dhar, SU, Erwin, DJ, Emrick, L, Keren, B, Afenjar, A, Zhu, B, Bai, B, Stankiewicz, P, Herman, K, Mercimek-Andrews, S, Juusola, J, Wilfert, AB, Abou Jamra, R, Buettner, B, Mefford, HC, Muir, AM, Scheffer, IE, Regan, BM, Malone, S, Gecz, J, Cobben, J, Weiss, MM, Waisfisz, Q, Bijlsma, EK, Hoffer, MJ, Ruivenkamp, CAL, Sartori, S, Xia, F, Rosenfeld, JA, Bernier, RA, Wangler, MF, Yamamoto, S, Xia, K, Stegmann, APA, Bellen, HJ, Murgia, A, Eichler, EE, Nickerson, DA, Bamshad, MJ, Guo, H, Bettella, E, Marcogliese, PC, Zhao, R, Andrews, JC, Nowakowski, TJ, Gillentine, MA, Hoekzema, K, Wang, T, Wu, H, Jangam, S, Liu, C, Ni, H, Willemsen, MH, van Bon, BW, Rinne, T, Stevens, SJC, Kleefstra, T, Brunner, HG, Yntema, HG, Long, M, Zhao, W, Hu, Z, Colson, C, Richard, N, Schwartz, CE, Romano, C, Castiglia, L, Bottitta, M, Dhar, SU, Erwin, DJ, Emrick, L, Keren, B, Afenjar, A, Zhu, B, Bai, B, Stankiewicz, P, Herman, K, Mercimek-Andrews, S, Juusola, J, Wilfert, AB, Abou Jamra, R, Buettner, B, Mefford, HC, Muir, AM, Scheffer, IE, Regan, BM, Malone, S, Gecz, J, Cobben, J, Weiss, MM, Waisfisz, Q, Bijlsma, EK, Hoffer, MJ, Ruivenkamp, CAL, Sartori, S, Xia, F, Rosenfeld, JA, Bernier, RA, Wangler, MF, Yamamoto, S, Xia, K, Stegmann, APA, Bellen, HJ, Murgia, A, Eichler, EE, Nickerson, DA, and Bamshad, MJ
- Abstract
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
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- 2019
29. Biocompatible and Biodegradable Magnesium Oxide Nanoparticles with In Vitro Photostable Near-Infrared Emission: Short-Term Fluorescent Markers
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Khalid, A, Norello, R, Abraham, AN, Tetienne, J-P, Karle, TJ, Lui, EWC, Xia, K, Tran, PA, O'Connor, AJ, Mann, BG, de Boer, R, He, Y, Ng, AMC, Djurisic, AB, Shukla, R, Tomljenovic-Hanic, S, Khalid, A, Norello, R, Abraham, AN, Tetienne, J-P, Karle, TJ, Lui, EWC, Xia, K, Tran, PA, O'Connor, AJ, Mann, BG, de Boer, R, He, Y, Ng, AMC, Djurisic, AB, Shukla, R, and Tomljenovic-Hanic, S
- Abstract
Imaging of biological matter by using fluorescent nanoparticles (NPs) is becoming a widespread method for in vitro imaging. However, currently there is no fluorescent NP that satisfies all necessary criteria for short-term in vivo imaging: biocompatibility, biodegradability, photostability, suitable wavelengths of absorbance and fluorescence that differ from tissue auto-fluorescence, and near infrared (NIR) emission. In this paper, we report on the photoluminescent properties of magnesium oxide (MgO) NPs that meet all these criteria. The optical defects, attributed to vanadium and chromium ion substitutional defects, emitting in the NIR, are observed at room temperature in NPs of commercial and in-house ball-milled MgO nanoparticles, respectively. As such, the NPs have been successfully integrated into cultured cells and photostable bright in vitro emission from NPs was recorded and analyzed. We expect that numerous biotechnological and medical applications will emerge as this nanomaterial satisfies all criteria for short-term in vivo imaging.
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- 2019
30. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
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Guo, Hui, Li, Ying, Shen, L., Wang, T., Jia, X., Liu, L.J., Vries, B.B.A. de, Eichler, E.E., Xia, K., Guo, Hui, Li, Ying, Shen, L., Wang, T., Jia, X., Liu, L.J., Vries, B.B.A. de, Eichler, E.E., and Xia, K.
- Abstract
Contains fulltext : 214597.pdf (publisher's version ) (Open Access)
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- 2019
31. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
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Guo, Hui, Li, Ying, Shen, L., Wang, T., Jia, X., Liu, L.J., Vries, B.B.A. de, Eichler, E.E., Xia, K., Guo, Hui, Li, Ying, Shen, L., Wang, T., Jia, X., Liu, L.J., Vries, B.B.A. de, Eichler, E.E., and Xia, K.
- Abstract
Contains fulltext : 214597.pdf (publisher's version ) (Open Access)
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- 2019
32. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
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Guo, H, Li, Y, Shen, Lucy, Wang, TY, Jia, XB, Liu, LJ, Xu, T, Ou, MZ, Hoekzema, K, Wu, HD, Gillentine, MA, Liu, CY, Ni, HL, Peng, PW, Zhao, RJ, Zhang, Y, Phornphutkul, C, Stegmann, APA, Prada, CE, Hopkin, RJ, Shieh, JT, McWalter, K, Monaghan, K G, van Hasselt, PM, van Gassen, K, Bai, T, Long, M, Han, L, Quan, YT, Chen, ML, Zhang, YW, Li, KKW, Zhang, QM, Tan, JQ, Zhu, TF, Liu, YN, Pang, N, Peng, J, Scott, DA, Lalani, SR, Azamian, M, Verheijen - Mancini, Grazia, Adams, DJ, Kvarnung, M, Lindstrand, A, Nordgren, A, Pevsner, J, Osei-Owusu, IA, Romano, C, Calabrese, G, Galesi, O, Gecz, J, Haan, E, Ranells, J, Racobaldo, M, Nordenskjold, M, Madan-Khetarpal, S, Sebastian, J, Ball, S, Zou, XB, Zhao, JP, Hu, ZM, Xia, F, Liu, PF, Rosenfeld, JA, de Vries, BBA, Bernier, RA, Xu, ZQD, Li, HH, Xie, W, Hufnagel, RB, Eichler, EE, Xia, K, Guo, H, Li, Y, Shen, Lucy, Wang, TY, Jia, XB, Liu, LJ, Xu, T, Ou, MZ, Hoekzema, K, Wu, HD, Gillentine, MA, Liu, CY, Ni, HL, Peng, PW, Zhao, RJ, Zhang, Y, Phornphutkul, C, Stegmann, APA, Prada, CE, Hopkin, RJ, Shieh, JT, McWalter, K, Monaghan, K G, van Hasselt, PM, van Gassen, K, Bai, T, Long, M, Han, L, Quan, YT, Chen, ML, Zhang, YW, Li, KKW, Zhang, QM, Tan, JQ, Zhu, TF, Liu, YN, Pang, N, Peng, J, Scott, DA, Lalani, SR, Azamian, M, Verheijen - Mancini, Grazia, Adams, DJ, Kvarnung, M, Lindstrand, A, Nordgren, A, Pevsner, J, Osei-Owusu, IA, Romano, C, Calabrese, G, Galesi, O, Gecz, J, Haan, E, Ranells, J, Racobaldo, M, Nordenskjold, M, Madan-Khetarpal, S, Sebastian, J, Ball, S, Zou, XB, Zhao, JP, Hu, ZM, Xia, F, Liu, PF, Rosenfeld, JA, de Vries, BBA, Bernier, RA, Xu, ZQD, Li, HH, Xie, W, Hufnagel, RB, Eichler, EE, and Xia, K
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- 2019
33. A semantic information services framework for sustainable WEEE management toward cloud-based remanufacturing
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Xia, K., Gao, L., Wang, Lihui, Li, W., Chao, K. -M, Xia, K., Gao, L., Wang, Lihui, Li, W., and Chao, K. -M
- Abstract
Sustainable management of Waste Electrical and Electronic Equipment (WEEE) has attracted escalating concerns of researchers and industries. Closer information linking among the participants in the products' lifecycle should take place. How to interoperate among the distributed and heterogeneous information systems of various participants is a challenge faced. Targeting the cloud-based remanufacturing, this article aims to develop a semantic information services framework for sustainable WEEE management. In the proposed framework, an ontology-based approach is developed to integrate and represent the lifecycle information from multiple local data sources within an information services provider. Meanwhile, a semantic information services management platform is introduced for the advertisement, matchmaking, and retrieval of semantic information services. Some relevant techniques used to build the framework are introduced extensively. A demonstration case study on waste LCD TV is used to illustrate the effectiveness and significance of the proposed framework., QC 20200428
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- 2018
- Full Text
- View/download PDF
34. 3D multilevel spin transfer torque devices
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Hong, J, Hong, J, Stone, M, Navarrete, B, Luongo, K, Zheng, Q, Yuan, Z, Xia, K, Xu, N, Bokor, J, You, L, Khizroev, S, Hong, J, Hong, J, Stone, M, Navarrete, B, Luongo, K, Zheng, Q, Yuan, Z, Xia, K, Xu, N, Bokor, J, You, L, and Khizroev, S
- Abstract
Spin-transfer torque magnetic tunneling junction devices capable of a multilevel three-dimensional (3D) information processing are studied in the sub-20-nm size range. The devices are built using He+ and Ne+ focused ion beam etching. It has been demonstrated that due to their extreme scalability and energy efficiency, these devices can significantly reduce the device footprint compared to the modern CMOS approaches and add advanced features in a 3D stack with a sub-20-nm size using a spin polarized current.
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- 2018
35. A comparative study of the effect of submicron porous and smooth ultrafine-grained Ti-20Mo surfaces on osteoblast responses
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Gui, N, Xu, W, Abraham, AN, Myers, DE, Mayes, ELH, Xia, K, Shukla, R, Qian, M, Gui, N, Xu, W, Abraham, AN, Myers, DE, Mayes, ELH, Xia, K, Shukla, R, and Qian, M
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- 2018
36. High Ductility in a fully martensitic microstructure: a paradox in a Ti alloy produced by selective laser melting
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Zafari, A, Xia, K, Zafari, A, and Xia, K
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- 2018
37. 3D multilevel spin transfer torque devices
- Author
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Hong, J, Hong, J, Stone, M, Navarrete, B, Luongo, K, Zheng, Q, Yuan, Z, Xia, K, Xu, N, Bokor, J, You, L, Khizroev, S, Hong, J, Hong, J, Stone, M, Navarrete, B, Luongo, K, Zheng, Q, Yuan, Z, Xia, K, Xu, N, Bokor, J, You, L, and Khizroev, S
- Abstract
Spin-transfer torque magnetic tunneling junction devices capable of a multilevel three-dimensional (3D) information processing are studied in the sub-20-nm size range. The devices are built using He+ and Ne+ focused ion beam etching. It has been demonstrated that due to their extreme scalability and energy efficiency, these devices can significantly reduce the device footprint compared to the modern CMOS approaches and add advanced features in a 3D stack with a sub-20-nm size using a spin polarized current.
- Published
- 2018
38. Direct observation of magnon-phonon coupling in yttrium iron garnet
- Author
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Man, H, Man, H, Shi, Z, Xu, G, Xu, Y, Chen, X, Sullivan, S, Zhou, J, Xia, K, Shi, J, Dai, P, Man, H, Man, H, Shi, Z, Xu, G, Xu, Y, Chen, X, Sullivan, S, Zhou, J, Xia, K, Shi, J, and Dai, P
- Abstract
The magnetic insulator yttrium iron garnet (YIG) with a ferrimagnetic transition temperature of ∼560 K has been widely used in microwave and spintronic devices. Anomalous features in spin Seeback effect (SSE) voltages have been observed in Pt/YIG and attributed to magnon-phonon coupling. Here, we use inelastic neutron scattering to map out low-energy spin waves and acoustic phonons of YIG at 100 K as a function of increasing magnetic field. By comparing the zero and 9.1 T data, we find that instead of splitting and opening up gaps at the spin wave and acoustic phonon dispersion intersecting points, magnon-phonon coupling in YIG enhances the hybridized scattering intensity. These results are different from expectations of conventional spin-lattice coupling, calling for different paradigms to understand the scattering process of magnon-phonon interactions and the resulting magnon polarons.
- Published
- 2017
39. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
- Author
-
Stessman, H.A., Xiong, B., Coe, B.P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T.N., Santen, G., Ruivenkamp, C., Kriek, M., Haeringen, A. van, Aten, E., Friend, K., Liebelt, J., Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B.M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R.F., Vandeweyer, G., Helsmoortel, C., Romano, C, Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D.G., Scheffer, I.E., Delatycki, M.B., Lockhart, P.J., Hormozdiari, F., Harich, B., Castells Nobau, A., Xia, K., Peeters, H., Nordenskjold, M., Schenck, A., Bernier, R.A., Eichler, E.E., Stessman, H.A., Xiong, B., Coe, B.P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T.N., Santen, G., Ruivenkamp, C., Kriek, M., Haeringen, A. van, Aten, E., Friend, K., Liebelt, J., Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B.M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R.F., Vandeweyer, G., Helsmoortel, C., Romano, C, Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D.G., Scheffer, I.E., Delatycki, M.B., Lockhart, P.J., Hormozdiari, F., Harich, B., Castells Nobau, A., Xia, K., Peeters, H., Nordenskjold, M., Schenck, A., Bernier, R.A., and Eichler, E.E.
- Abstract
Item does not contain fulltext, Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
- Published
- 2017
40. Negative predictive value of ultrasound in hypofunctioning nodules.
- Author
-
Soo G., Ramdave S., Chong A., Jong I., Nandurkar D., Xia K., Soo G., Ramdave S., Chong A., Jong I., Nandurkar D., and Xia K.
- Abstract
Introduction: A solid hypofunctioning (cold) nodule on scintigraphy is associated with an increased risk of malignancy while a functioning (hot) nodule is rarely malignant. This study aims to assess if the risk of malignancy in patients with cold nodules can be stratified according to the presence of sonographic features and therefore determine the need for invasive cytopathological correlation. Method(s): This study is a retrospective audit correlating the sonographic and cytological findings of solid hypofunctioning nodules on Tc-99m pertechnetate scintigraphy. The sonographic features and cytology for benign and malignant nodules were compared using Fisher's exact test and the unpaired T-test. A P value <0.05 was considered statistically significant. Result(s): In the sample of 53 nodules, 21 nodules demonstrated suspicious features on ultrasound and 32 nodules had no suspicious ultrasound findings. Absence of suspicious sonographic features on ultrasound has a high negative predictive value of 0.94 (95% CI 0.79 - 0.99), but presence of suspicious sonographic features has a poor positive predictive value of 0.14 (95% CI 0.03 - 0.36) for cold nodules. There was a strong correlation between nodule echogenicity and cytology (P=0.02). The absence of marked hypoechogencity had a high negative predictive value of 0.96 (95% CI 0.85 - 0.99), but poor positive predictive value of 0.38 (95% CI 0.085 - 0.76). Conclusion(s): There was a statistically significant association between absence of suspicious sonographic findings and benign cytology in our study. This suggests that ultrasound can be used to stratify a cold thyroid nodule before invasive procedures are performed.
- Published
- 2017
41. Negative predictive value of ultrasound in hypofunctioning nodules.
- Author
-
Soo G., Ramdave S., Chong A., Jong I., Nandurkar D., Xia K., Soo G., Ramdave S., Chong A., Jong I., Nandurkar D., and Xia K.
- Abstract
Introduction: A solid hypofunctioning (cold) nodule on scintigraphy is associated with an increased risk of malignancy while a functioning (hot) nodule is rarely malignant. This study aims to assess if the risk of malignancy in patients with cold nodules can be stratified according to the presence of sonographic features and therefore determine the need for invasive cytopathological correlation. Method(s): This study is a retrospective audit correlating the sonographic and cytological findings of solid hypofunctioning nodules on Tc-99m pertechnetate scintigraphy. The sonographic features and cytology for benign and malignant nodules were compared using Fisher's exact test and the unpaired T-test. A P value <0.05 was considered statistically significant. Result(s): In the sample of 53 nodules, 21 nodules demonstrated suspicious features on ultrasound and 32 nodules had no suspicious ultrasound findings. Absence of suspicious sonographic features on ultrasound has a high negative predictive value of 0.94 (95% CI 0.79 - 0.99), but presence of suspicious sonographic features has a poor positive predictive value of 0.14 (95% CI 0.03 - 0.36) for cold nodules. There was a strong correlation between nodule echogenicity and cytology (P=0.02). The absence of marked hypoechogencity had a high negative predictive value of 0.96 (95% CI 0.85 - 0.99), but poor positive predictive value of 0.38 (95% CI 0.085 - 0.76). Conclusion(s): There was a statistically significant association between absence of suspicious sonographic findings and benign cytology in our study. This suggests that ultrasound can be used to stratify a cold thyroid nodule before invasive procedures are performed.
- Published
- 2017
42. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
- Author
-
Stessman, HAF, Xiong, B, Coe, BP, Wang, T, Hoekzema, K, Fenckova, M, Kvarnung, M, Gerdts, J, Trinh, S, Cosemans, N, Vives, L, Lin, J, Turner, TN, Santen, G, Ruivenkamp, C, Kriek, M, van Haeringen, A, Aten, E, Friend, K, Liebelt, J, Barnett, C, Haan, E, Shaw, M, Gecz, J, Anderlid, B-M, Nordgren, A, Lindstrand, A, Schwartz, C, Kooy, RF, Vandeweyer, G, Helsmoortel, C, Romano, C, Alberti, A, Vinci, M, Avola, E, Giusto, S, Courchesne, E, Pramparo, T, Pierce, K, Nalabolu, S, Amaral, DG, Scheffer, IE, Delatycki, MB, Lockhart, PJ, Hormozdiari, F, Harich, B, Castells-Nobau, A, Xia, K, Peeters, H, Nordenskjold, M, Schenck, A, Bernier, RA, Eichler, EE, Stessman, HAF, Xiong, B, Coe, BP, Wang, T, Hoekzema, K, Fenckova, M, Kvarnung, M, Gerdts, J, Trinh, S, Cosemans, N, Vives, L, Lin, J, Turner, TN, Santen, G, Ruivenkamp, C, Kriek, M, van Haeringen, A, Aten, E, Friend, K, Liebelt, J, Barnett, C, Haan, E, Shaw, M, Gecz, J, Anderlid, B-M, Nordgren, A, Lindstrand, A, Schwartz, C, Kooy, RF, Vandeweyer, G, Helsmoortel, C, Romano, C, Alberti, A, Vinci, M, Avola, E, Giusto, S, Courchesne, E, Pramparo, T, Pierce, K, Nalabolu, S, Amaral, DG, Scheffer, IE, Delatycki, MB, Lockhart, PJ, Hormozdiari, F, Harich, B, Castells-Nobau, A, Xia, K, Peeters, H, Nordenskjold, M, Schenck, A, Bernier, RA, and Eichler, EE
- Abstract
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
- Published
- 2017
43. Direct observation of magnon-phonon coupling in yttrium iron garnet
- Author
-
Man, H, Man, H, Shi, Z, Xu, G, Xu, Y, Chen, X, Sullivan, S, Zhou, J, Xia, K, Shi, J, Dai, P, Man, H, Man, H, Shi, Z, Xu, G, Xu, Y, Chen, X, Sullivan, S, Zhou, J, Xia, K, Shi, J, and Dai, P
- Abstract
The magnetic insulator yttrium iron garnet (YIG) with a ferrimagnetic transition temperature of ∼560 K has been widely used in microwave and spintronic devices. Anomalous features in spin Seeback effect (SSE) voltages have been observed in Pt/YIG and attributed to magnon-phonon coupling. Here, we use inelastic neutron scattering to map out low-energy spin waves and acoustic phonons of YIG at 100 K as a function of increasing magnetic field. By comparing the zero and 9.1 T data, we find that instead of splitting and opening up gaps at the spin wave and acoustic phonon dispersion intersecting points, magnon-phonon coupling in YIG enhances the hybridized scattering intensity. These results are different from expectations of conventional spin-lattice coupling, calling for different paradigms to understand the scattering process of magnon-phonon interactions and the resulting magnon polarons.
- Published
- 2017
44. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
- Author
-
Stessman, H.A., Xiong, B., Coe, B.P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T.N., Santen, G., Ruivenkamp, C., Kriek, M., Haeringen, A. van, Aten, E., Friend, K., Liebelt, J., Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B.M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R.F., Vandeweyer, G., Helsmoortel, C., Romano, C, Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D.G., Scheffer, I.E., Delatycki, M.B., Lockhart, P.J., Hormozdiari, F., Harich, B., Castells Nobau, A., Xia, K., Peeters, H., Nordenskjold, M., Schenck, A., Bernier, R.A., Eichler, E.E., Stessman, H.A., Xiong, B., Coe, B.P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T.N., Santen, G., Ruivenkamp, C., Kriek, M., Haeringen, A. van, Aten, E., Friend, K., Liebelt, J., Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B.M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R.F., Vandeweyer, G., Helsmoortel, C., Romano, C, Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D.G., Scheffer, I.E., Delatycki, M.B., Lockhart, P.J., Hormozdiari, F., Harich, B., Castells Nobau, A., Xia, K., Peeters, H., Nordenskjold, M., Schenck, A., Bernier, R.A., and Eichler, E.E.
- Abstract
Item does not contain fulltext, Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
- Published
- 2017
45. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
- Author
-
Stessman, H.A., Xiong, B., Coe, B.P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T.N., Santen, G., Ruivenkamp, C., Kriek, M., Haeringen, A. van, Aten, E., Friend, K., Liebelt, J., Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B.M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R.F., Vandeweyer, G., Helsmoortel, C., Romano, C, Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D.G., Scheffer, I.E., Delatycki, M.B., Lockhart, P.J., Hormozdiari, F., Harich, B., Castells Nobau, A., Xia, K., Peeters, H., Nordenskjold, M., Schenck, A., Bernier, R.A., Eichler, E.E., Stessman, H.A., Xiong, B., Coe, B.P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., Vives, L., Lin, J., Turner, T.N., Santen, G., Ruivenkamp, C., Kriek, M., Haeringen, A. van, Aten, E., Friend, K., Liebelt, J., Barnett, C., Haan, E., Shaw, M., Gecz, J., Anderlid, B.M., Nordgren, A., Lindstrand, A., Schwartz, C., Kooy, R.F., Vandeweyer, G., Helsmoortel, C., Romano, C, Alberti, A., Vinci, M., Avola, E., Giusto, S., Courchesne, E., Pramparo, T., Pierce, K., Nalabolu, S., Amaral, D.G., Scheffer, I.E., Delatycki, M.B., Lockhart, P.J., Hormozdiari, F., Harich, B., Castells Nobau, A., Xia, K., Peeters, H., Nordenskjold, M., Schenck, A., Bernier, R.A., and Eichler, E.E.
- Abstract
Item does not contain fulltext, Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
- Published
- 2017
46. Service-oriented disassembly sequence planning for electrical and electronic equipment waste
- Author
-
Xia, K., Gao, L., Wang, Lihui, Li, W., Li, X., Ijomah, W., Xia, K., Gao, L., Wang, Lihui, Li, W., Li, X., and Ijomah, W.
- Abstract
Disassembly sequence planning plays an important role in the end-of-life treatment of electrical and electronic equipment waste (e-waste). Effective planning methods can improve recovery rates and reduce environmental impacts of e-waste. In previous work, neither mathematical models nor optimization algorithms offered a satisfactory solution for this multi-objective disassembly problem. We present a multi-objective model for the problem and a modified teaching-learning-based optimization (MTLBO) algorithm to find the Pareto-optimal frontier. We use numerical simulations to demonstrate and verify the effectiveness and robustness of the algorithm. To do effective disassembly planning, all the participants in the lifecycle of e-waste should work together. Disassembly and recovery of e-waste involve complex processes across the lifecycle. Information support services, disassembly modeling and optimization services must be integrated using computer networks. We also propose a service-oriented framework to support business integration for the participants in the e-waste lifecycle. Effective and optimized disassembly planning can be achieved by invoking the related distributed services. The proposed framework is a novel e-business application for the end-of-life treatment of e-waste., QC 20170221
- Published
- 2016
- Full Text
- View/download PDF
47. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
- Author
-
Stessman, H.A., Willemsen, M.H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H.G., Burgt, I. van der, Ockeloen, C.W., Schuurs-Hoeijmakers, J.H.M., Wassink-Ruiter, J.S., Stumpel, C., Stevens, S.J., Vles, H.S., Marcelis, C.M., Bokhoven, H. van, Cantagrel, V., Colleaux, L., Nicouleau, M., Lyonnet, S., Bernier, R.A., Gerdts, J., Coe, B.P., Romano, C, Alberti, A., Grillo, L., Scuderi, C., Nordenskjold, M., Kvarnung, M., Guo, H., Xia, K., Piton, A., Gerard, B., Genevieve, D., Delobel, B., Lehalle, D., Perrin, L., Prieur, F., Thevenon, J., Gecz, J., Shaw, M., Pfundt, R., Keren, B., Jacquette, A., Schenck, A., Eichler, E.E., Kleefstra, T., Stessman, H.A., Willemsen, M.H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H.G., Burgt, I. van der, Ockeloen, C.W., Schuurs-Hoeijmakers, J.H.M., Wassink-Ruiter, J.S., Stumpel, C., Stevens, S.J., Vles, H.S., Marcelis, C.M., Bokhoven, H. van, Cantagrel, V., Colleaux, L., Nicouleau, M., Lyonnet, S., Bernier, R.A., Gerdts, J., Coe, B.P., Romano, C, Alberti, A., Grillo, L., Scuderi, C., Nordenskjold, M., Kvarnung, M., Guo, H., Xia, K., Piton, A., Gerard, B., Genevieve, D., Delobel, B., Lehalle, D., Perrin, L., Prieur, F., Thevenon, J., Gecz, J., Shaw, M., Pfundt, R., Keren, B., Jacquette, A., Schenck, A., Eichler, E.E., and Kleefstra, T.
- Abstract
Item does not contain fulltext, Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in POGZ by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID. The rarity of disruptive mutations among unaffected individuals (2/49,401) highlights the significance (p = 4.19 x 10(-13); odds ratio = 35.8) and penetrance (65.9%) of this genetic subtype with respect to ASD and ID. By studying the entire cohort, we defined common phenotypic features of POGZ individuals, including variable levels of developmental delay (DD) and more severe speech and language delay in comparison to the severity of motor delay and coordination issues. We also identified significant associations with vision problems, microcephaly, hyperactivity, a tendency to obesity, and feeding difficulties. Some features might be explained by the high expression of POGZ, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in Drosophila by inducing conditional knockdown of the POGZ ortholog row, further confirming that dosage of POGZ, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in POGZ and define a POGZ-related phenotype enriched in specific features.
- Published
- 2016
48. Psychiatric Genetics in China: Achievements and Challenges
- Author
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Liu, Chunyu, Saffen, David M., Schulze, Thomas G., Burmeister, Margit, Sham, Pak, Yao, Y.G., Kuo, Pohsiu, Chen, Chen, An, Y., Dai, J., Yue, W., Li, M.X., Xue, Hong, Su, Bing, Chen, Li, Shi, Yongyong, Qiao, M., Liu, T., Xia, K., Chan, R.C.K., Liu, Chunyu, Saffen, David M., Schulze, Thomas G., Burmeister, Margit, Sham, Pak, Yao, Y.G., Kuo, Pohsiu, Chen, Chen, An, Y., Dai, J., Yue, W., Li, M.X., Xue, Hong, Su, Bing, Chen, Li, Shi, Yongyong, Qiao, M., Liu, T., Xia, K., and Chan, R.C.K.
- Abstract
Psychiatric genetics is still in its early stages in China, but has great potential and a promising future. Many of the elements and resources required for the dynamic growth of this field are already in place. At the same time, there are many hurdles to overcome. Enhanced education to promote public awareness of the importance of genetic research, increased funding for individual labs and collaborative research, increased participation of clinicians in patient ascertainment and testing, and improved academic evaluation policies are all vital to fostering collaborative research and the formation of large consortia needed to create a science of genetics tailored to the needs of the Chinese population. We hope that collaborative efforts of the entire psychiatric genetics community, with active input from the researchers who are working on neuroscience biology, will lead to better ways of diagnosing, treating and preventing psychiatric diseases in China, thereby easing the burdens of individual sufferers and their families and the social and economic burdens of country as a whole. The ideas discussed at the First Summit on Chinese Psychiatric enetics in 2004 were further developed at the Second Summit n Chinese Psychiatric Genetics in Kunming, Yunnan (12-13 April) and presentations and discussions from both Summits contributed to the content of the present paper. The Third Summit on Chinese Psychiatric Genetics will be held in Wuxi, Jiangsu in 2016. We strongly believe that these Summits will become an important orum for psychiatric genetics research in China and will serve as a seed from which a new research society will grow. We welcome all interested researchers, both international and from China, to join us at our next meeting in Wuxi.
- Published
- 2016
49. Achieving Fine Beta Grain Structure in a Metastable Beta Titanium Alloy Through Multiple Forging-Annealing Cycles
- Author
-
Zafari, A, Ding, Y, Cui, J, Xia, K, Zafari, A, Ding, Y, Cui, J, and Xia, K
- Published
- 2016
50. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
- Author
-
Stessman, H.A., Willemsen, M.H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H.G., Burgt, I. van der, Ockeloen, C.W., Schuurs-Hoeijmakers, J.H.M., Wassink-Ruiter, J.S., Stumpel, C., Stevens, S.J., Vles, H.S., Marcelis, C.M., Bokhoven, H. van, Cantagrel, V., Colleaux, L., Nicouleau, M., Lyonnet, S., Bernier, R.A., Gerdts, J., Coe, B.P., Romano, C, Alberti, A., Grillo, L., Scuderi, C., Nordenskjold, M., Kvarnung, M., Guo, H., Xia, K., Piton, A., Gerard, B., Genevieve, D., Delobel, B., Lehalle, D., Perrin, L., Prieur, F., Thevenon, J., Gecz, J., Shaw, M., Pfundt, R., Keren, B., Jacquette, A., Schenck, A., Eichler, E.E., Kleefstra, T., Stessman, H.A., Willemsen, M.H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H.G., Burgt, I. van der, Ockeloen, C.W., Schuurs-Hoeijmakers, J.H.M., Wassink-Ruiter, J.S., Stumpel, C., Stevens, S.J., Vles, H.S., Marcelis, C.M., Bokhoven, H. van, Cantagrel, V., Colleaux, L., Nicouleau, M., Lyonnet, S., Bernier, R.A., Gerdts, J., Coe, B.P., Romano, C, Alberti, A., Grillo, L., Scuderi, C., Nordenskjold, M., Kvarnung, M., Guo, H., Xia, K., Piton, A., Gerard, B., Genevieve, D., Delobel, B., Lehalle, D., Perrin, L., Prieur, F., Thevenon, J., Gecz, J., Shaw, M., Pfundt, R., Keren, B., Jacquette, A., Schenck, A., Eichler, E.E., and Kleefstra, T.
- Abstract
Contains fulltext : 167732.pdf (Publisher’s version ) (Closed access), Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous, and a significant number of genes have been associated with both conditions. A few mutations in POGZ have been reported in recent exome studies; however, these studies do not provide detailed clinical information. We collected the clinical and molecular data of 25 individuals with disruptive mutations in POGZ by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID. The rarity of disruptive mutations among unaffected individuals (2/49,401) highlights the significance (p = 4.19 x 10(-13); odds ratio = 35.8) and penetrance (65.9%) of this genetic subtype with respect to ASD and ID. By studying the entire cohort, we defined common phenotypic features of POGZ individuals, including variable levels of developmental delay (DD) and more severe speech and language delay in comparison to the severity of motor delay and coordination issues. We also identified significant associations with vision problems, microcephaly, hyperactivity, a tendency to obesity, and feeding difficulties. Some features might be explained by the high expression of POGZ, particularly in the cerebellum and pituitary, early in fetal brain development. We conducted parallel studies in Drosophila by inducing conditional knockdown of the POGZ ortholog row, further confirming that dosage of POGZ, specifically in neurons, is essential for normal learning in a habituation paradigm. Combined, the data underscore the pathogenicity of loss-of-function mutations in POGZ and define a POGZ-related phenotype enriched in specific features.
- Published
- 2016
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