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3. Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study

Author

Votýpka, Pavel, Krebsová, Alice, Norambuena-Poustková, Patricia, Peldová, Petra, Pohlová Kučerová, Štěpánka, Kulvajtová, Markéta, Dohnalová, Petra, Bílek, Matěj, Stufka, Veronika, Rücklová, Kristina, Grossová, Iva, Wünschová, Hanka, Tavačová, Terezia, Hašková, Jana, Segeťová, Markéta, Štoček, Jakub, Gřegořová, Andrea, Zoubková, Veronika, Petřková, Jana, Dobiáš, Martin, Makuša, Michal, Blanková, Alžběta, Vajtr, David, Řehulka, Hynek, Šubrt, Ivan, Pilin, Alexander, Tomášek, Petr, Janoušek, Jan, Kautzner, Josef, and Macek, Jr., Milan

Published
2023
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4. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Author

Trubetskoy, Vassily, Pardiñas, Antonio F., Qi, Ting, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Bigdeli, Tim B., Bryois, Julien, Chen, Chia-Yen, Dennison, Charlotte A., Hall, Lynsey S., Lam, Max, Watanabe, Kyoko, Frei, Oleksandr, Ge, Tian, Harwood, Janet C., Koopmans, Frank, Magnusson, Sigurdur, Richards, Alexander L., Sidorenko, Julia, Wu, Yang, Zeng, Jian, Grove, Jakob, Kim, Minsoo, Li, Zhiqiang, Voloudakis, Georgios, Zhang, Wen, Adams, Mark, Agartz, Ingrid, Atkinson, Elizabeth G., Agerbo, Esben, Al Eissa, Mariam, Albus, Margot, Alexander, Madeline, Alizadeh, Behrooz Z., Alptekin, Köksal, Als, Thomas D., Amin, Farooq, Arolt, Volker, Arrojo, Manuel, Athanasiu, Lavinia, Azevedo, Maria Helena, Bacanu, Silviu A., Bass, Nicholas J., Begemann, Martin, Belliveau, Richard A., Bene, Judit, Benyamin, Beben, Bergen, Sarah E., Blasi, Giuseppe, Bobes, Julio, Bonassi, Stefano, Braun, Alice, Bressan, Rodrigo Affonseca, Bromet, Evelyn J., Bruggeman, Richard, Buckley, Peter F., Buckner, Randy L., Bybjerg-Grauholm, Jonas, Cahn, Wiepke, Cairns, Murray J., Calkins, Monica E., Carr, Vaughan J., Castle, David, Catts, Stanley V., Chambert, Kimberley D., Chan, Raymond C. K., Chaumette, Boris, Cheng, Wei, Cheung, Eric F. C., Chong, Siow Ann, Cohen, David, Consoli, Angèle, Cordeiro, Quirino, Costas, Javier, Curtis, Charles, Davidson, Michael, Davis, Kenneth L., de Haan, Lieuwe, Degenhardt, Franziska, DeLisi, Lynn E., Demontis, Ditte, Dickerson, Faith, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Duan, Jubao, Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G., Fañanás, Lourdes, Faraone, Stephen V., Fiorentino, Alessia, Forstner, Andreas, Frank, Josef, Freimer, Nelson B., Fromer, Menachem, Frustaci, Alessandra, Gadelha, Ary, Genovese, Giulio, Gershon, Elliot S., Giannitelli, Marianna, Giegling, Ina, Giusti-Rodríguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., González Peñas, Javier, González-Pinto, Ana, Gopal, Srihari, Gratten, Jacob, Green, Michael F., Greenwood, Tiffany A., Guillin, Olivier, Gülöksüz, Sinan, Gur, Raquel E., Gur, Ruben C., Gutiérrez, Blanca, Hahn, Eric, Hakonarson, Hakon, Haroutunian, Vahram, Hartmann, Annette M., Harvey, Carol, Hayward, Caroline, Henskens, Frans A., Herms, Stefan, Hoffmann, Per, Howrigan, Daniel P., Ikeda, Masashi, Iyegbe, Conrad, Joa, Inge, Julià, Antonio, Kähler, Anna K., Kam-Thong, Tony, Kamatani, Yoichiro, Karachanak-Yankova, Sena, Kebir, Oussama, Keller, Matthew C., Kelly, Brian J., Khrunin, Andrey, Kim, Sung-Wan, Klovins, Janis, Kondratiev, Nikolay, Konte, Bettina, Kraft, Julia, Kubo, Michiaki, Kučinskas, Vaidutis, Kučinskiene, Zita Ausrele, Kusumawardhani, Agung, Kuzelova-Ptackova, Hana, Landi, Stefano, Lazzeroni, Laura C., Lee, Phil H., Legge, Sophie E., Lehrer, Douglas S., Lencer, Rebecca, Lerer, Bernard, Li, Miaoxin, Lieberman, Jeffrey, Light, Gregory A., Limborska, Svetlana, Liu, Chih-Min, Lönnqvist, Jouko, Loughland, Carmel M., Lubinski, Jan, Luykx, Jurjen J., Lynham, Amy, Macek, Jr, Milan, Mackinnon, Andrew, Magnusson, Patrik K. E., Maher, Brion S., Maier, Wolfgang, Malaspina, Dolores, Mallet, Jacques, Marder, Stephen R., Marsal, Sara, Martin, Alicia R., Martorell, Lourdes, Mattheisen, Manuel, McCarley, Robert W., McDonald, Colm, McGrath, John J., Medeiros, Helena, Meier, Sandra, Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mitjans, Marina, Molden, Espen, Molina, Esther, Molto, María Dolores, Mondelli, Valeria, Moreno, Carmen, Morley, Christopher P., Muntané, Gerard, Murphy, Kieran C., Myin-Germeys, Inez, Nenadić, Igor, Nestadt, Gerald, Nikitina-Zake, Liene, Noto, Cristiano, Nuechterlein, Keith H., O’Brien, Niamh Louise, O’Neill, F. Anthony, Oh, Sang-Yun, Olincy, Ann, Ota, Vanessa Kiyomi, Pantelis, Christos, Papadimitriou, George N., Parellada, Mara, Paunio, Tiina, Pellegrino, Renata, Periyasamy, Sathish, Perkins, Diana O., Pfuhlmann, Bruno, Pietiläinen, Olli, Pimm, Jonathan, Porteous, David, Powell, John, Quattrone, Diego, Quested, Digby, Radant, Allen D., Rampino, Antonio, Rapaport, Mark H., Rautanen, Anna, Reichenberg, Abraham, Roe, Cheryl, Roffman, Joshua L., Roth, Julian, Rothermundt, Matthias, Rutten, Bart P. F., Saker-Delye, Safaa, Salomaa, Veikko, Sanjuan, Julio, Santoro, Marcos Leite, Savitz, Adam, Schall, Ulrich, Scott, Rodney J., Seidman, Larry J., Sharp, Sally Isabel, Shi, Jianxin, Siever, Larry J., Sigurdsson, Engilbert, Sim, Kang, Skarabis, Nora, Slominsky, Petr, So, Hon-Cheong, Sobell, Janet L., Söderman, Erik, Stain, Helen J., Steen, Nils Eiel, Steixner-Kumar, Agnes A., Stögmann, Elisabeth, Stone, William S., Straub, Richard E., Streit, Fabian, Strengman, Eric, Stroup, T. Scott, Subramaniam, Mythily, Sugar, Catherine A., Suvisaari, Jaana, Svrakic, Dragan M., Swerdlow, Neal R., Szatkiewicz, Jin P., Ta, Thi Minh Tam, Takahashi, Atsushi, Terao, Chikashi, Thibaut, Florence, Toncheva, Draga, Tooney, Paul A., Torretta, Silvia, Tosato, Sarah, Tura, Gian Battista, Turetsky, Bruce I., Üçok, Alp, Vaaler, Arne, van Amelsvoort, Therese, van Winkel, Ruud, Veijola, Juha, Waddington, John, Walter, Henrik, Waterreus, Anna, Webb, Bradley T., Weiser, Mark, Williams, Nigel M., Witt, Stephanie H., Wormley, Brandon K., Wu, Jing Qin, Xu, Zhida, Yolken, Robert, Zai, Clement C., Zhou, Wei, Zhu, Feng, Zimprich, Fritz, Atbaşoğlu, Eşref Cem, Ayub, Muhammad, Benner, Christian, Bertolino, Alessandro, Black, Donald W., Bray, Nicholas J., Breen, Gerome, Buccola, Nancy G., Byerley, William F., Chen, Wei J., Cloninger, C. Robert, Crespo-Facorro, Benedicto, Donohoe, Gary, Freedman, Robert, Galletly, Cherrie, Gandal, Michael J., Gennarelli, Massimo, Hougaard, David M., Hwu, Hai-Gwo, Jablensky, Assen V., McCarroll, Steven A., Moran, Jennifer L., Mors, Ole, Mortensen, Preben B., Müller-Myhsok, Bertram, Neil, Amanda L., Nordentoft, Merete, Pato, Michele T., Petryshen, Tracey L., Pirinen, Matti, Pulver, Ann E., Schulze, Thomas G., Silverman, Jeremy M., Smoller, Jordan W., Stahl, Eli A., Tsuang, Debby W., Vilella, Elisabet, Wang, Shi-Heng, Xu, Shuhua, Adolfsson, Rolf, Arango, Celso, Baune, Bernhard T., Belangero, Sintia Iole, Børglum, Anders D., Braff, David, Bramon, Elvira, Buxbaum, Joseph D., Campion, Dominique, Cervilla, Jorge A., Cichon, Sven, Collier, David A., Corvin, Aiden, Curtis, David, Forti, Marta Di, Domenici, Enrico, Ehrenreich, Hannelore, Escott-Price, Valentina, Esko, Tõnu, Fanous, Ayman H., Gareeva, Anna, Gawlik, Micha, Gejman, Pablo V., Gill, Michael, Glatt, Stephen J., Golimbet, Vera, Hong, Kyung Sue, Hultman, Christina M., Hyman, Steven E., Iwata, Nakao, Jönsson, Erik G., Kahn, René S., Kennedy, James L., Khusnutdinova, Elza, Kirov, George, Knowles, James A., Krebs, Marie-Odile, Laurent-Levinson, Claudine, Lee, Jimmy, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., Malhotra, Dheeraj, McIntosh, Andrew, McQuillin, Andrew, Menezes, Paulo R., Morgan, Vera A., Morris, Derek W., Mowry, Bryan J., Murray, Robin M., Nimgaonkar, Vishwajit, Nöthen, Markus M., Ophoff, Roel A., Paciga, Sara A., Palotie, Aarno, Pato, Carlos N., Qin, Shengying, Rietschel, Marcella, Riley, Brien P., Rivera, Margarita, Rujescu, Dan, Saka, Meram C., Sanders, Alan R., Schwab, Sibylle G., Serretti, Alessandro, Sham, Pak C., Shi, Yongyong, St Clair, David, Stefánsson, Hreinn, Stefansson, Kari, Tsuang, Ming T., van Os, Jim, Vawter, Marquis P., Weinberger, Daniel R., Werge, Thomas, Wildenauer, Dieter B., Yu, Xin, Yue, Weihua, Holmans, Peter A., Pocklington, Andrew J., Roussos, Panos, Vassos, Evangelos, Verhage, Matthijs, Visscher, Peter M., Yang, Jian, Posthuma, Danielle, Andreassen, Ole A., Kendler, Kenneth S., Owen, Michael J., Wray, Naomi R., Daly, Mark J., Huang, Hailiang, Neale, Benjamin M., Sullivan, Patrick F., Ripke, Stephan, Walters, James T. R., and O’Donovan, Michael C.

Published
2022
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6. Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.

Author

Schwarz, Martin, Gazdarica, Matej, Froňková, Eva, Svatoň, Michael, Bronský, Jiří, Havlovicová, Markéta, Křepelová, Anna, and Macek jr, Milan

Abstract

Purpose: Crohn's disease is a chronic gastrointestinal inflammatory disease with possible extraintestinal symptoms. There are predisposing genetic factors and even monogenic variants of the disorder. One of the possible genetic factors are variants of the DUOX2 gene. The protein product of the DUOX2 gene is a dual oxidase enzyme producing H2O2 in the bowel. Reduced H2O2 levels impact mucosal homeostasis and contribute to the development of inflammatory bowel disease. Thus far, only 19 patients with IBD with the DUOX2 variants have been described. Methods: Here we present a case report of an adolescent female diagnosed at eleven years of age with IBD that was subsequently reclassified as Crohn's disease. She was treated with immunosuppressants and biological therapy but experienced additional complications. Her peripheral blood lymphocyte DNA was studied using massive parallel sequencing. Detected variants were functionally studied. Results: Whole exome sequencing found two novel DUOX2 gene variants: a de novo variant c.3646C>T; p.R1216W and a maternally inherited variant c.3391G>A; p.A1131T which were initially classified as variants of unknown significance. However, follow-up functional studies demonstrated that both DUOX2 variants led to impaired H2O2 generation, which led to their reclassification to the likely pathogenic class according to the ACMG.net. Therefore, we conclude that these variants are causative for the disease. Conclusions: Identifying novel variants in patients with Crohn's disease and their families is important for precision medicine approaches and understanding of the pathogenesis of likely "monogenic" rare forms of inflammatory bowel disease. [ABSTRACT FROM AUTHOR]

Published
2024
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9. The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.

Author

Thomasová, Dana, Zelinová, Michaela, Libik, Malgorzata, Geryk, Jan, Votýpka, Pavel, Bloudíčková, Silvie Rajnochová, Krejčí, Karel, Reiterová, Jana, Jančová, Eva, Machová, Jana, Kollárová, Martina, Rychík, Ivan, Havrda, Martin, Horáčková, Miroslava, Putzová, Martina, Šafránek, Roman, Kollár, Marek, and Macek Jr., Milan

Published
2024
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10. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, and Alembik, Yves

Abstract

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.

Published
2023

11. Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study

Author

Mlčoch, Tomáš, Klimeš, Jiří, Fila, Libor, Vávrová, Věra, Skalická, Veronika, Turnovec, Marek, Krulišová, Veronika, Jirčíková, Jitka, Zemková, Dana, Dědečková, Klára Vilimovská, Bílková, Alena, Frühaufová, Vladimíra, Homola, Lukáš, Friedmannová, Zuzana, Drnek, Radovan, Dřevínek, Pavel, Doležal, Tomáš, and Macek, Jr., Milan

Published
2017
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13. Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Author

Bloch-Zupan, Agnes, Rey, Tristan, Jimenez-Armijo, Alexandra, Kawczynski, Marzena, Kharouf, Naji, de La Dure-Molla, Muriel, Noirrit, Emmanuelle, Hernandez, Magali, Joseph-Beaudin, Clara, Lopez, Serena, Tardieu, Corinne, Thivichon-Prince, Béatrice, Dostalova, Tatjana, Macek Jr, Milan, El Alloussi, Mustapha, Qebibo, Leila, Morkmued, Supawich, Pungchanchaikul, Patimaporn, Orellana, Blanca Urzúa, and Manière, Marie-Cécile

Subjects
AMELOGENESIS imperfecta, NUCLEOTIDE sequencing, HEREDITY, GENETIC variation, DISEASE management
Abstract

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature and serve as a basis, together with the mode of inheritance, to Witkop's classification (Witkop, J Oral Pathol, 1988, 17, 547-553). AI can be described in isolation or associated with others symptoms in syndromes. Its occurrence was estimated to range from 1/700 to 1/14,000. More than 70 genes have currently been identified as causative. Objectives: We analyzed using next-generation sequencing (NGS) a heterogeneous cohort of AI patients in order to determine the molecular etiology of AI and to improve diagnosis and disease management. Methods: Individuals presenting with so called "isolated" or syndromic AI were enrolled and examined at the Reference Centre for Rare Oral and Dental Diseases (O-Rares) using D4/phenodent protocol (www.phenodent.org). Families gave written informed consents for both phenotyping and molecular analysis and diagnosis using a dedicated NGS panel named GenoDENT. This panel explores currently simultaneously 567 genes. The study is registered under NCT01746121 and NCT02397824 (https://clinicaltrials.gov/). Results: GenoDENT obtained a 60% diagnostic rate. We reported genetics results for 221 persons divided between 115 AI index cases and their 106 associated relatives from a total of 111 families. From this index cohort, 73% were diagnosed with non-syndromic amelogenesis imperfecta and 27% with syndromic amelogenesis imperfecta. Each individual was classified according to the AI phenotype. Type I hypoplastic AI represented 61 individuals (53%), Type II hypomature AI affected 31 individuals (27%), Type III hypomineralized AI was diagnosed in 18 individuals (16%) and Type IV hypoplastic-hypomature AI with taurodontism concerned 5 individuals (4%). We validated the genetic diagnosis, with class 4 (likely pathogenic) or class 5 (pathogenic) variants, for 81% of the cohort, and identified candidate variants (variant of uncertain significance or VUS) for 19% of index cases. Among the 151 sequenced variants, 47 are newly reported and classified as class 4 or 5. The most frequently discovered genotypes were associated with MMP20 and FAM83H for isolated AI. FAM20A and LTBP3 genes were the most frequent genes identified for syndromic AI. Patients negative to the panel were resolved with exome sequencing elucidating for example the gene involved ie ACP4 or digenic inheritance. Conclusion: NGS GenoDENT panel is a validated and cost-efficient technique offering new perspectives to understand underlying molecular mechanisms of AI. Discovering variants in genes involved in syndromic AI (CNNM4, WDR72, FAM20A . . .) transformed patient overall care. Unravelling the genetic basis of AI sheds light on Witkop's AI classification. [ABSTRACT FROM AUTHOR]

Published
2023
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15. Survival estimates in European cystic fibrosis patients and the impact of socioeconomic factors: a retrospective registry cohort study

Author

McKone, Edward F, Ariti, Cono; https://orcid.org/0000-0001-7615-0935, Jackson, Abaigeal; https://orcid.org/0000-0003-2766-8900, Zolin, Anna, Carr, Siobhán B; https://orcid.org/0000-0003-0580-2478, Orenti, Annalisa; https://orcid.org/0000-0002-0932-2757, van Rens, Jacqui G, Lemonnier, Lydie, Macek Jr, Milan, Keogh, Ruth H, Naehrlich, Lutz, McKone, Edward F, Ariti, Cono; https://orcid.org/0000-0001-7615-0935, Jackson, Abaigeal; https://orcid.org/0000-0003-2766-8900, Zolin, Anna, Carr, Siobhán B; https://orcid.org/0000-0003-0580-2478, Orenti, Annalisa; https://orcid.org/0000-0002-0932-2757, van Rens, Jacqui G, Lemonnier, Lydie, Macek Jr, Milan, Keogh, Ruth H, and Naehrlich, Lutz

Abstract

Background: Median survival for cystic fibrosis (CF) patients in Europe is unknown and is likely to be influenced by socioeconomic factors. Using the European CF Society Patient Registry (ECFSPR), median survival estimates were obtained for CF patients across Europe and the impact of socioeconomic status on survival was examined. Methods: CF subjects known to be alive and in the ECFSPR between 2010 and 2014 were included. Survival curves were estimated using the Kaplan-Meier method. Differences in the survival curves were assessed using the log-rank test. Cox regression was used to estimate the association between socioeconomic factors and the age-specific hazard of death, with adjustment for sex, age at diagnosis, CF transmembrane conductance regulator (CFTR) genotype and transplant status. Results: The final analysis included 13 countries with 31 987 subjects (135 833 person-years of follow-up) and 1435 deaths. Median survival age for these patients in the ECFSPR was 51.7 (95% CI 50.0-53.4) years. After adjusting for potential confounders age at diagnosis, sex, CFTR genotype and transplant status, there remained strong evidence of an association between socioeconomic factors and mortality (p<0.001). Countries in the highest third of healthcare spending had a 46% lower hazard of mortality (HR 0.54, 95% CI 0.45-0.64) than countries in the lowest third of healthcare spending. Conclusions: Median survival for patients with CF in Europe is comparable to that reported in other jurisdictions and differs by socioeconomic factors.

Published
2021

16. Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

Author

Krulišová, Veronika, Balaščaková, Miroslava, Skalická, Veronika, Piskáčková, Tereza, Holubová, Andrea, Paděrová, Jana, Křenková, Petra, Dvořáková, Lenka, Zemková, Dana, Kračmar, Petr, Chovancová, Blanka, Vávrová, Věra, Štambergová, Alexandra, Votava, Felix, and Macek, Jr., Milan

Published
2012
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17. Clinical presentation in CF patients with large deletions

Author

Petrova, Guergana, primary, Yaneva, Nadezhda, additional, Libik, Malgorzata, additional, Miteva, Dimitrinka, additional, Gospodinova, Boriana, additional, Nikolova, Margarita, additional, Perenovska, Penka, additional, Macek Jr, Milan, additional, and Savov, Alexey, additional

Published
2020
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19. SCA2 trinucleotide expansion in German SCA patients

Author

Riess, Olaf, Laccone, Franco A., Gispert, Suzana, Schöls, Ludger, Zühlke, Christine, Vieira-Saecker, Ana Maria Menezes, Herlt, Susanne, Wessel, Karl, Epplen, Jörg T., Weber, Bernhard H.F., Kreuz, Friedmar, Chahrokh-Zadeh, Soheyla, Meindl, Alfons, Lunkes, Astrid, Aguiar, Jorge, Macek Jr, Milan, Krebsová, Alice, Macek Sen, Milan, Bürk, Katrin, Tinschert, Sigrid, Schreyer, Isolde, Pulst, Stefan-M., and Auburger, Georg

Published
1997
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20. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

Author

Huckins, Laura M. Dobbyn, Amanda Ruderfer, Douglas M. and Hoffman, Gabriel Wang, Weiqing Pardinas, Antonio F. and Rajagopal, Veera M. Als, Thomas D. Nguyen, Hoang T. Girdhar, Kiran Boocock, James Roussos, Panos Fromer, Menachem and Kramer, Robin Domenici, Enrico Gamazon, Eric R. Purcell, Shaun Demontis, Ditte Borglum, Anders D. Walters, James T. R. O'Donovan, Michael C. Sullivan, Patrick Owen, Michael J. and Devlin, Bernie Sieberts, Solveig K. Cox, Nancy J. Im, Hae Kyung Sklar, Pamela Stahl, Eli A. Johnson, Jessica S. and Shah, Hardik R. Klein, Lambertus L. Dang, Kristen K. and Logsdon, Benjamin A. Mahajan, Milind C. Mangravite, Lara M. and Toyoshiba, Hiroyoshi Gur, Raquel E. Hahn, Chang-Gyu Schadt, Eric Lewis, David A. Haroutunian, Vahram Peters, Mette A. and Lipska, Barbara K. Buxbaum, Joseph D. Hirai, Keisuke and Perumal, Thanneer M. Essioux, Laurent Rajagopal, Veera Manikandan Mattheisen, Manuel Grove, Jakob Werge, Thomas and Mortensen, Preben Bo Pedersen, Carsten Bocker Agerbo, Esben and Pedersen, Marianne Giortz Mors, Ole Nordentoft, Merete and Hougaard, David M. Bybjerg-Grauholm, Jonas Baekvad-Hansen, Marie and Hansen, Christine Soholm Ripke, Stephan Neale, Benjamin M. and Corvin, Aiden Farh, Kai-How Holmans, Peter A. Lee, Phil and Bulik-Sullivan, Brendan Collier, David A. Huang, Hailiang and Pers, Tune H. Agartz, Ingrid Albus, Margot Alexander, Madeline Amin, Farooq Bacanu, Silviu A. Begemann, Martin and Belliveau, Jr., Richard A. Bene, Judit Bergen, Sarah E. and Bevilacqua, Elizabeth Bigdeli, Tim B. Black, Donald W. and Bruggeman, Richard Buccola, Nancy G. Buckner, Randy L. and Byerley, William Cahn, Wiepke Cai, Guiqing Campion, Dominique Cantor, Rita M. Carr, Vaughan J. Carrera, Noa and Catts, V, Stanley Chambert, Kimberly D. Chan, Raymond C. K. and Chen, Ronald Y. L. Chen, Eric Y. H. Cheng, Wei Cheung, Eric F. C. Chong, Siow Ann Cloninger, C. Robert Cohen, David and Cohen, Nadine Cormican, Paul Craddock, Nick Crowley, James J. Curtis, David Davidson, Michael Davis, Kenneth L. and Degenhardt, Franziska Del Favero, Jurgen Dikeos, Dimitris and Dinan, Timothy Djurovic, Srdjan Donohoe, Gary Drapeau, Elodie Duan, Jubao Dudbridge, Frank Durmishi, Naser and Eichhammer, Peter Eriksson, Johan Escott-Price, Valentina and Essioux, Laurent Fanous, Ayman H. Farrell, Martilias S. and Frank, Josef Franke, Lude Freedman, Robert Freimer, Nelson B. Friedl, Marion Friedman, I, Joseph Fromer, Menachem and Genovese, Giulio Georgieva, Lyudmila Giegling, Ina and Giusti-Rodriguez, Paola Godard, Stephanie Goldstein, I, Jacqueline Golimbet, Vera Gopal, Srihari Gratten, Jacob and de Haan, Lieuwe Hammer, Christian Hamshere, Marian L. and Hansen, Mark Hansen, Thomas Haroutunian, Vahram Hartmann, Annette M. Henskens, Frans A. Herms, Stefan Hirschhorn, Joel N. Hoffmann, Per Hofman, Andrea Hollegaard, V, Mads and Ikeda, Masashi Joa, Inge Julia, Antonio Kahn, Rene S. and Kalaydjieva, Luba Karachanak-Yankova, Sena Karjalainen, Juha and Kavanagh, David Keller, Matthew C. Kennedy, James L. and Khrunin, Andrey Kim, Yunjung Klovins, Janis Knowles, James A. Konte, Bettina Kucinskas, Vaidutis Kucinskiene, Zita Ausrele Kuzelova-Ptackova, Hana Kahler, Anna K. Laurent, Claudine Keong, Jimmy Lee Chee Lee, S. Hong Legge, Sophie E. and Lerer, Bernard Li, Miaoxin Li, Tao Liang, Kung-Yee and Lieberman, Jeffrey Limborska, Svetlana Loughland, Carmel M. and Lubinski, Jan Lonnqvist, Jouko Macek, Jr., Milan Magnusson, Patrik K. E. Maher, Brion S. Maier, Wolfgang Mallet, Jacques and Marsal, Sara Mattingsdal, Morten McCarley, Robert W. and McDonald, Colm McIntosh, Andrew M. Meier, Sandra Meijer, Carin J. Melegh, Bela Melle, Ingrid Mesholam-Gately, I, Raquelle Metspalu, Andres Michie, Patricia T. Milani, Lili and Milanova, Vihra Mokrab, Younes Morris, Derek W. Mors, Ole Murphy, Kieran C. Murray, Robin M. Myin-Germeys, Inez and Muller-Myhsok, Bertram Nelis, Mari Nenadic, Igor and Nertney, Deborah A. Nestadt, Gerald Nicodemus, Kristin K. and Nikitina-Zake, Liene Nisenbaum, Laura Nordin, Annelie and O'Callaghan, Eadbhard O'Dushlaine, Colm O'Neill, F. Anthony and Oh, Sang-Yun Olincy, Ann Olsen, Line Van Os, Jim and Pantelis, Christos Papadimitriou, George N. Papiol, Sergi and Parkhomenko, Elena Pato, Michele T. Paunio, Tiina and Pejovic-Milovancevic, Milica Perkins, Diana O. Pietilainen, Olli and Pimm, Jonathan Pocklington, Andrew J. Powell, John and Price, Alkes Pulver, Ann E. Purcell, Shaun M. Quested, Digby and Rasmussen, Henrik B. Reichenberg, Abraham Reimers, Mark A. and Richards, Alexander L. Roffman, Joshua L. Ruderfer, Douglas M. Salomaa, Veikko Sanders, Alan R. Schall, Ulrich and Schubert, Christian R. Schulze, Thomas G. Schwab, Sibylle G. and Scolnick, Edward M. Scott, Rodney J. Seidman, Larry J. Shi, Jianxin Sigurdsson, Engilbert Silagadze, Teimuraz Silverman, Jeremy M. Sim, Kang Slominsky, Petr Smoller, Jordan W. and So, Hon-Cheong Spencer, Chris C. A. Stefansson, Hreinn and Steinberg, Stacy Stogmann, Elisabeth Straub, Richard E. and Strengman, Eric Strohmaier, Jana Stroup, T. Scott and Subramaniam, Mythily Suvisaari, Jaana Svrakic, Dragan M. and Szatkiewicz, Jin P. Soderman, Erik Thirumalai, Srinivas and Toncheva, Draga Tosato, Sarah Veijola, Juha Waddington, John and Walsh, Dermot Wang, Dai Wang, Qiang Webb, Bradley T. and Weiser, Mark Wildenauer, Dieter B. Williams, Nigel M. and Williams, Stephanie Witt, Stephanie H. Wolen, Aaron R. Wong, Emily H. M. Wormley, Brandon K. Xi, Hualin Simon Zai, Clement C. Zheng, Xuebin Zimprich, Fritz Wray, Naomi R. and Stefansson, Kari Visscher, Peter M. Adolfsson, Rolf and Andreassen, Ole A. Blackwood, Douglas H. R. Bramon, Elvira and Buxbaum, Joseph D. Borglum, Anders D. Cichon, Sven Darvasi, Ariel Domenici, Enrico Ehrenreich, Hannelore Esko, Tonu and Gejman, V, Pablo Gill, Michael Gurling, Hugh Hultman, Christina M. Iwata, Nakao Jablensky, V, Assen Jonsson, Erik G. Kendler, Kenneth S. Kirov, George Knight, Jo Lencz, Todd Levinson, Douglas F. Li, Qingqin S. Liu, Jianjun and Malhotra, Anil K. McCarroll, Steven A. McQuillin, Andrew and Moran, Jennifer L. Mortensen, Preben B. Mowry, Bryan J. and Nothen, Markus M. Ophoff, Roel A. Owen, Michael J. Palotie, Aarno Pato, Carlos N. Petryshen, Tracey L. Posthuma, Danielle Rietschel, Marcella Riley, Brien P. Rujescu, Dan and Sham, Pak C. St Clair, David Weinberger, Daniel R. and Wendland, Jens R. Werge, Thomas Daly, Mark J. Sullivan, Patrick F. CommonMind Consortium Psychiat Genomics Consortium and iPSYCH-GEMS Schizophrenia Working

Abstract

Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.

Published
2019

21. Gynekologické léze u hereditárních nádorových syndromů.

Author

Dundr, Pavel, Cibula, David, Foretová, Lenka, Macek jr., Milan, Kopečková, Kateřina, Petruželka, Luboš, Němejcová, Kristýna, Bártů, Michaela, Hojný, Jan, Hájková, Nikola, Jakša, Radek, Janega, Pavol, and Stružinská, Ivana

Published
2021

22. Biological insights from 108 schizophrenia-associated genetic loci

Author

Ripke, Stephan, Neale, Benjamin M., Corvin, Aiden, Walters, James T. R., Farh, Kai-How, Holmans, Peter A., Lee, Phil, Bulik-Sullivan, Brendan, Collier, David A., Huang, Hailiang, Pers, Tune H., Agartz, Ingrid, Agerbo, Esben, Albus, Margot, Alexander, Madeline, Amin, Farooq, Bacanu, Silviu A., Begemann, Martin, Belliveau Jr, Richard A., Bene, Judit, Bergen, Sarah E., Bevilacqua, Elizabeth, Bigdeli, Tim B., Black, Donald W., Bruggeman, Richard, Buccola, Nancy G., Buckner, Randy L., Byerley, William, Cahn, Wiepke, Cai, Guiqing, Campion, Dominique, Cantor, Rita M., Carr, Vaughan J., Carrera, Noa, Catts, Stanley V., Chambert, Kimberly D., Chan, Raymond C. K., Chen, Ronald Y. L., Chen, Eric Y. H., Cheng, Wei, Cheung, Eric F. C., Ann Chong, Siow, Robert Cloninger, C., Cohen, David, Cohen, Nadine, Cormican, Paul, Craddock, Nick, Crowley, James J., Curtis, David, Davidson, Michael, Davis, Kenneth L., Degenhardt, Franziska, Del Favero, Jurgen, Demontis, Ditte, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Donohoe, Gary, Drapeau, Elodie, Duan, Jubao, Dudbridge, Frank, Durmishi, Naser, Eichhammer, Peter, Eriksson, Johan, Escott-Price, Valentina, Essioux, Laurent, Fanous, Ayman H., Farrell, Martilias S., Frank, Josef, Franke, Lude, Freedman, Robert, Freimer, Nelson B., Friedl, Marion, Friedman, Joseph I., Fromer, Menachem, Genovese, Giulio, Georgieva, Lyudmila, Giegling, Ina, Giusti-Rodriguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., Golimbet, Vera, Gopal, Srihari, Gratten, Jacob, de Haan, Lieuwe, Hammer, Christian, Hamshere, Marian L., Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M., Henskens, Frans A., Herms, Stefan, Hirschhorn, Joel N., Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V., Hougaard, David M., Ikeda, Masashi, Joa, Inge, Julia, Antonio, Kahn, Rene S., Kalaydjieva, Luba, Karachanak-Yankova, Sena, Karjalainen, Juha, Kavanagh, David, Keller, Matthew C., Kennedy, James L., Khrunin, Andrey, Kim, Yunjung, Klovins, Janis, Knowles, James A., Konte, Bettina, Kucinskas, Vaidutis, Ausrele Kucinskiene, Zita, Kuzelova-Ptackova, Hana, Kahler, Anna K., Laurent, Claudine, Lee Chee Keong, Jimmy, Hong Lee, S., Legge, Sophie E., Lerer, Bernard, Li, Miaoxin, Liang, Kung-Yee, Lieberman, Jeffrey, Limborska, Svetlana, Loughland, Carmel M., Lubinski, Jan, Lonnqvist, Jouko, Macek Jr, Milan, Magnusson, Patrik K. E., Maher, Brion S., Maier, Wolfgang, Mallet, Jacques, Marsal, Sara, Mattheisen, Manuel, Mattingsdal, Morten, McCarley, Robert W., McDonald, Colm, McIntosh, Andrew M., Meier, Sandra, Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mokrab, Younes, Morris, Derek W., Mors, Ole, Murphy, Kieran C., Murray, Robin M., Myin-Germeys, Inez, Muller-Myhsok, Bertram, Nelis, Mari, Nenadic, Igor, Nertney, Deborah A., Nestadt, Gerald, Nicodemus, Kristin K., Nikitina-Zake, Liene, Nisenbaum, Laura, Nordin, Annelie, Oh, Sang-Yun, Olincy, Ann, Olsen, Line, Van Os, Jim, Endophenotypes International Consortium, Psychosis, Pantelis, Christos, Papadimitriou, George N., Papiol, Sergi, Parkhomenko, Elena, Pato, Michele T., Paunio, Tiina, Pejovic-Milovancevic, Milica, Perkins, Diana O., Pietilainen, Olli, Pimm, Jonathan, Pocklington, Andrew J., Powell, John, Price, Alkes, Pulver, Ann E., Purcell, Shaun M., Quested, Digby, Rasmussen, Henrik B., Reichenberg, Abraham, Reimers, Mark A., Richards, Alexander L., Roffman, Joshua L., Roussos, Panos, Ruderfer, Douglas M., Salomaa, Veikko, Sanders, Alan R., Schall, Ulrich, Schubert, Christian R., Schulze, Thomas G., Schwab, Sibylle G., Scolnick, Edward M., Scott, Rodney J., Seidman, Larry J., Shi, Jianxin, Sigurdsson, Engilbert, Silagadze, Teimuraz, Silverman, Jeremy M., Sim, Kang, Slominsky, Petr, Smoller, Jordan W., So, Hon-Cheong, Spencer, ChrisC. A., Stahl, Eli A., Stefansson, Hreinn, Steinberg, Stacy, Stogmann, Elisabeth, Straub, Richard E., Strengman, Eric, Strohmaier, Jana, Scott Stroup, T., Subramaniam, Mythily, Suvisaari, Jaana, Svrakic, Dragan M., Szatkiewicz, Jin P., Soderman, Erik, Thirumalai, Srinivas, Toncheva, Draga, Tosato, Sarah, Veijola, Juha, Waddington, John, Walsh, Dermot, Wang, Dai, Wang, Qiang, Webb, Bradley T., Weiser, Mark, Wildenauer, Dieter B., Williams, Nigel M., Williams, Stephanie, Witt, Stephanie H., Wolen, Aaron R., Wong, Emily H. M., Wormley, Brandon K., Simon Xi, Hualin, Zai, Clement C., Zheng, Xuebin, Zimprich, Fritz, Wray, Naomi R., Stefansson, Kari, Visscher, Peter M., Trust Case-Control Consortium, Wellcome, Adolfsson, Rolf, Andreassen, Ole A., Blackwood, Douglas H. R., Bramon, Elvira, Buxbaum, Joseph D., Borglum, Anders D., Cichon, Sven, Darvasi, Ariel, Domenici, Enrico, Ehrenreich, Hannelore, Esko, Tonu, Gejman, Pablo V., Gill, Michael, Gurling, Hugh, Hultman, Christina M., Iwata, Nakao, Jablensky, Assen V., Jonsson, Erik G., Kendler, Kenneth S., Kirov, George, Knight, Jo, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., McCarroll, Steven A., McQuillin, Andrew, Moran, Jennifer L., Mortensen, Preben B., Mowry, Bryan J., Nothen, Markus M., Ophoff, Roel A., Owen, Michael J., Palotie, Aarno, Pato, Carlos N., Petryshen, Tracey L., Posthuma, Danielle, Rietschel, Marcella, Riley, Brien P., Rujescu, Dan, Sham, Pak C., Sklar, Pamela, St Clair, David, Weinberger, Daniel R., Wendland, Jens R., Werge, Thomas, Daly, Mark J., and Sullivan, Patrick F.

Subjects
Genetic research -- Analysis, Schizophrenia -- Research -- Health aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia., Author(s): Schizophrenia Working Group of the Psychiatric Genomics Consortium; Stephan Ripke [1, 2]; Benjamin M. Neale [1, 2, 3, 4]; Aiden Corvin [5]; James T. R. Walters [6]; Kai-How Farh [...]

Published
2014
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23. Human epididymis protein 4 (HE4): a novel serum inflammatory biomarker in cystic fibrosis

Author

Nagy, Béla Jr., Nagy, Béla, Fila, Libor, Clarke, Luka A., Gönczy, Ferenc, Bede, Olga, Nagy, Dóra, Újhelyi, Rita, Szabó, Ágnes, Anghelyi, Andrea, Major, Miklós, Bene, Zsolt, Fejes, Zsolt, Antal-Szalmás, Péter, Bhattoa, Harjit Pal, Balla, György, Kappelmayer, János, Amaral, Margarida D., Macek, Jr., Milan, and Balogh, István

Subjects
Orvostudományok, Klinikai orvostudományok
Published
2016

24. Serum HE4 is a suitable inflammatory biomarker in cystic fibrosis

Author

Nagy, Béla Jr., Fila, Libor, Clarke, Luka A., Fejes, Zsolt, Antal-Szalmás, Péter, Kappelmayer, János, Amaral, Margarida D., Macek, Jr., Milan, and Balogh, István

Subjects
Orvostudományok, Klinikai orvostudományok
Abstract

KA

Published
2016

25. The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Author

Bonaventura, Jiří, Norambuena, Patricia, Tomašov, Pavol, Jindrová, Denisa, Šedivá, Hana, Macek Jr., Milan, Veselka, Josef, and Macek, Milan Jr

Subjects
GENETIC testing, HYPERTROPHIC cardiomyopathy, CARDIOMYOPATHIES, MEDICAL genetics, MEDICAL genomics, CYTOPLASMIC filaments
Abstract

Introduction: The yield of genetic testing in hypertrophic cardiomyopathy (HCM) is variable. The Mayo HCM Genotype Predictor score (Mayo Score) provides the pre-test probability of a positive HCM genetic test. In the original cohort of Mayo Score patients, only 9 HCM-associated myofilament genes were evaluated. The aim of this study was to validate the Mayo Score in the national HCM cohort and assess the yield of genetic testing using next generation sequencing (NGS) evaluating up to 229 genes.Material and Methods: We included 336 consecutive unrelated HCM patients (41% women, mean age: 53 ±15 years). We performed NGS-based genomic testing with classification of identified variants according to American College of Medical Genetics and Genomics guidelines. NGS findings were compared with the Mayo Score (ranging from -1 to 5) based on clinical and echocardiographic variables.Results: We identified 72 variants classified as pathogenic or likely pathogenic in 70 (21%) HCM patients. One patient with the highest Mayo Score of 5 had a pathogenic mutation (100% yield). Patients with a Mayo Score of 4 had a pathogenic mutation in 71% of cases. Patients with a Mayo Score of 3 or 2 had a pathogenic mutation in 50 and 35% of cases, respectively. The yield of genetic testing in patients with a Mayo Score of -1 to 1 was low (6-21%).Conclusions: The overall yield of genetic testing using NGS evaluating up to 229 genes was low. The yield of genetic testing was consistently predicted with Mayo Score values. [ABSTRACT FROM AUTHOR]

Published
2019
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28. Biological insights from 108 schizophrenia-associated genetic loci

Author

Ripke, Stephan Neale, Benjamin M. Corvin, Aiden Walters, James T. R. Farh, Kai-How Holmans, Peter A. Lee, Phil and Bulik-Sullivan, Brendan Collier, David A. Huang, Hailiang and Pers, Tune H. Agartz, Ingrid Agerbo, Esben Albus, Margot and Alexander, Madeline Amin, Farooq Bacanu, Silviu A. Begemann, Martin Belliveau, Jr., Richard A. Bene, Judit Bergen, Sarah E. Bevilacqua, Elizabeth Bigdeli, Tim B. Black, Donald W. and Bruggeman, Richard Buccola, Nancy G. Buckner, Randy L. and Byerley, William Cahn, Wiepke Cai, Guiqing Campion, Dominique Cantor, Rita M. Carr, Vaughan J. Carrera, Noa and Catts, Stanley V. Chambert, Kimberly D. Chan, Raymond C. K. and Chen, Ronald Y. L. Chen, Eric Y. H. Cheng, Wei Cheung, Eric F. C. Chong, Siow Ann Cloninger, C. Robert Cohen, David and Cohen, Nadine Cormican, Paul Craddock, Nick Crowley, James J. Curtis, David Davidson, Michael Davis, Kenneth L. and Degenhardt, Franziska Del Favero, Jurgen Demontis, Ditte and Dikeos, Dimitris Dinan, Timothy Djurovic, Srdjan Donohoe, Gary Drapeau, Elodie Duan, Jubao Dudbridge, Frank and Durmishi, Naser Eichhammer, Peter Eriksson, Johan and Escott-Price, Valentina Essioux, Laurent Fanous, Ayman H. and Farrell, Martilias S. Frank, Josef Franke, Lude Freedman, Robert Freimer, Nelson B. Friedl, Marion Friedman, Joseph I. and Fromer, Menachem Genovese, Giulio Georgieva, Lyudmila and Giegling, Ina Giusti-Rodriguez, Paola Godard, Stephanie and Goldstein, Jacqueline I. Golimbet, Vera Gopal, Srihari and Gratten, Jacob de Haan, Lieuwe Hammer, Christian Hamshere, Marian L. Hansen, Mark Hansen, Thomas Haroutunian, Vahram and Hartmann, Annette M. Henskens, Frans A. Herms, Stefan and Hirschhorn, Joel N. Hoffmann, Per Hofman, Andrea Hollegaard, Mads V. Hougaard, David M. Ikeda, Masashi Joa, Inge and Julia, Antonio Kahn, Rene S. Kalaydjieva, Luba and Karachanak-Yankova, Sena Karjalainen, Juha Kavanagh, David and Keller, Matthew C. Kennedy, James L. Khrunin, Andrey Kim, Yunjung Klovins, Janis Knowles, James A. Konte, Bettina and Kucinskas, Vaidutis Kucinskiene, Zita Ausrele Kuzelova-Ptackova, Hana Kahler, Anna K. Laurent, Claudine Keong, Jimmy Lee Chee and Lee, S. Hong Legge, Sophie E. Lerer, Bernard Li, Miaoxin and Li, Tao Liang, Kung-Yee Lieberman, Jeffrey Limborska, Svetlana Loughland, Carmel M. Lubinski, Jan Lonnqvist, Jouko and Macek, Jr., Milan Magnusson, Patrik K. E. Maher, Brion S. and Maier, Wolfgang Mallet, Jacques Marsal, Sara Mattheisen, Manuel Mattingsdal, Morten McCarley, Robert W. McDonald, Colm McIntosh, Andrew M. Meier, Sandra Meijer, Carin J. and Melegh, Bela Melle, Ingrid Mesholam-Gately, Raquelle I. and Metspalu, Andres Michie, Patricia T. Milani, Lili Milanova, Vihra Mokrab, Younes Morris, Derek W. Mors, Ole Murphy, Kieran C. Murray, Robin M. Myin-Germeys, Inez and Mueller-Myhsok, Bertram Nelis, Mari Nenadic, Igor Nertney, Deborah A. Nestadt, Gerald Nicodemus, Kristin K. and Nikitina-Zake, Liene Nisenbaum, Laura Nordin, Annelie and O'Callaghan, Eadbhard O'Dushlaine, Colm O'Neill, F. Anthony and Oh, Sang-Yun Olincy, Ann Olsen, Line Van Os, Jim and Pantelis, Christos Papadimitriou, George N. Papiol, Sergi and Parkhomenko, Elena Pato, Michele T. Paunio, Tiina and Pejovic-Milovancevic, Milica Perkins, Diana O. Pietilainen, Olli and Pimm, Jonathan Pocklington, Andrew J. Powell, John and Price, Alkes Pulver, Ann E. Purcell, Shaun M. Quested, Digby and Rasmussen, Henrik B. Reichenberg, Abraham Reimers, Mark A. and Richards, Alexander L. Roffman, Joshua L. Roussos, Panos and Ruderfer, Douglas M. Salomaa, Veikko Sanders, Alan R. and Schall, Ulrich Schubert, Christian R. Schulze, Thomas G. and Schwab, Sibylle G. Scolnick, Edward M. Scott, Rodney J. and Seidman, Larry J. Shi, Jianxin Sigurdsson, Engilbert and Silagadze, Teimuraz Silverman, Jeremy M. Sim, Kang and Slominsky, Petr Smoller, Jordan W. So, Hon-Cheong Spencer, Chris C. A. Stahl, Eli A. Stefansson, Hreinn Steinberg, Stacy Stogmann, Elisabeth Straub, Richard E. Strengman, Eric and Strohmaier, Jana Stroup, T. Scott Subramaniam, Mythily and Suvisaari, Jaana Svrakic, Dragan M. Szatkiewicz, Jin P. and Soderman, Erik Thirumalai, Srinivas Toncheva, Draga Tosato, Sarah Veijola, Juha Waddington, John Walsh, Dermot Wang, Dai Wang, Qiang Webb, Bradley T. Weiser, Mark and Wildenauer, Dieter B. Williams, Nigel M. Williams, Stephanie and Witt, Stephanie H. Wolen, Aaron R. Wong, Emily H. M. and Wormley, Brandon K. Xi, Hualin Simon Zai, Clement C. Zheng, Xuebin Zimprich, Fritz Wray, Naomi R. Stefansson, Kari and Visscher, Peter M. Adolfsson, Rolf Andreassen, Ole A. and Blackwood, Douglas H. R. Bramon, Elvira Buxbaum, Joseph D. and Borglum, Anders D. Cichon, Sven Darvasi, Ariel Domenici, Enrico Ehrenreich, Hannelore Esko, Tonu Gejman, Pablo V. and Gill, Michael Gurling, Hugh Hultman, Christina M. Iwata, Nakao Jablensky, Assen V. Jonsson, Erik G. Kendler, Kenneth S. Kirov, George Knight, Jo Lencz, Todd Levinson, Douglas F. Li, Qingqin S. Liu, Jianjun Malhotra, Anil K. and McCarroll, Steven A. McQuillin, Andrew Moran, Jennifer L. and Mortensen, Preben B. Mowry, Bryan J. Noethen, Markus M. and Ophoff, Roel A. Owen, Michael J. Palotie, Aarno Pato, Carlos N. Petryshen, Tracey L. Posthuma, Danielle Rietschel, Marcella Riley, Brien P. Rujescu, Dan Sham, Pak C. and Sklar, Pamela St Clair, David Weinberger, Daniel R. and Wendland, Jens R. Werge, Thomas Daly, Mark J. Sullivan, Patrick F. O'Donovan, Michael C. Psychiat Genomics Consortium and Psychosis Endophenotypes Int Conso Wellcome Trust Case-Control Consor

Abstract

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia.

Published
2014

29. Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy

Author

Vozikis, Athanassios, primary, Cooper, David N., additional, Mitropoulou, Christina, additional, Kambouris, Manousos E., additional, Brand, Angela, additional, Dolzan, Vita, additional, Fortina, Paolo, additional, Innocenti, Federico, additional, Lee, Ming Ta Michael, additional, Leyens, Lada, additional, Macek Jr, Milan, additional, Al-Mulla, Fahd, additional, Prainsack, Barbara, additional, Squassina, Alessio, additional, Taruscio, Domenica, additional, van Schaik, Ron H., additional, Vayena, Effy, additional, Williams, Marc S., additional, and Patrinos, George P., additional

Published
2016
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31. Institutional Profile Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine

Author

Mitropoulos, Konstantinos Innocenti, Federico van Schaik, Ron H. and Lezhava, Alexander Tzimas, Giannis Kollia, Panagoula and Macek, Jr., Milan Fortina, Paolo Patrinos, George P.

Subjects
education, health care economics and organizations
Abstract

The Golden Helix Institute of Biomedical Research is an international nonprofit scientific organization with interdisciplinary research and educational activities in the field of genome medicine in Europe, Asia and Latin America. These activities are supervised by an international scientific advisory council, consisting of world leaders in the field of genomics and translational medicine. Research activities include the regional coordination of the Pharmacogenomics for Every Nation Initiative in Europe, in an effort to integrate pharmacogenomics in developing countries, the development of several national/ethnic genetic databases and related web services and the critical assessment of the impact of genetics and genomic medicine on society in various countries. Educational activities also include the organization of the Golden Helix Symposia (R), which are high-profile scientific research symposia in the field of personalized medicine and the Golden Helix Pharmacogenomics Days, an international educational activity focused on pharmacogenomics, as part of its international pharmacogenomics education and outreach efforts.

Published
2012

32. Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy.

Author

Vozikis, athanassios, Cooper, David N., Mitropoulou, Christina, Kambouris, Manousos E., Brand, angela, Dolzan, Vita, Fortina, Paolo, Innocenti, Federico, Lee, Ming Ta Michael, Leyens, Lada, Macek Jr, Milan, al-Mulla, Fahd, Prainsack, Barbara, Squassina, alessio, Taruscio, Domenica, van Schaik, Ron H., Vayena, Effy, Williams, Marc S., and Patrinos, George P.

Subjects
GENETIC testing, DISEASE prevalence, PUBLIC health, MEDICARE reimbursement, STAKEHOLDERS
Abstract

This paper aims to provide an overview of the rationale and basic principles guiding the governance of genomic testing services, to clarify their objectives, and allocate and define responsibilities among stakeholders in a health-care system, with a special focus on the EU countries. Particular attention is paid to issues pertaining to pricing and reimbursement policies, the availability of essential genomic tests which differs between various countries owing to differences in disease prevalence and public health relevance, the prescribing and use of genomic testing services according to existing or new guidelines, budgetary and fiscal control, the balance between price and access to innovative testing, monitoring and evaluation for cost-effectiveness and safety, and the development of research capacity. We conclude that addressing the specific items put forward in this article will help to create a robust policy in relation to pricing and reimbursement in genomic medicine. This will contribute to an effective and sustainable health-care system and will prove beneficial to the economy at large. [ABSTRACT FROM AUTHOR]

Published
2017
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33. NAŠE PRVNÍ ZKUŠENOSTI S VYUŽITÍM KOMETOVÉHO TESTU PŘI HODNOCENÍ INTEGRITY DNA VE SPERMIÍCH.

Author

Novotná, Božena, Svobodová, Lucie, Čechová, Marcela, Jarolím, Ladislav, Chocholatý, Matúš, Bagryantseva, Yana, Macek Sr., Milan, and Macek Jr., Milan

Abstract

Copyright of Czech Urology / Ceska Urologie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2016

34. Ivacaftor in cystic fibrosis adults: Czech experience with six years of follow-up.

Author

Fila, Libor, Bartakova, Lucie Valentova, Grandcourtova, Alzbeta, Marel, Miloslav, Drnek, Radovan, Bilkova, Alena, Macek Jr., Milan, and Drevinek, Pavel

Abstract

Aims. Ivacaftor is a revolutionary treatment option for cystic fibrosis (CF) patients with G551D and other gating mutations. The aim of this study was to evaluate the clinical status of patients on ivacaftor who were followed for up to 6 years together with an evaluation of ivacaftor therapy in one patient with an initial FEV1 less than 40% of predicted value. Methods. Data on development of clinical status and sinopulmonary-related therapies were obtained from patient health records during ivacaftor treatment lasting for up to six years and were compared with an equivalent period before ivacaftor administration. Results. Five CF adults with a median age 28.6 years (range 21.4-35.6 years) with median FEV1 45% pred. (range 16-85% pred.) were included in the study. Four subjects were also participants in the STRIVE and PERSIST studies. Altogether, twenty-four patient-years of ivacaftor treatment were analyzed. The median FEV1 decline per year decreased from -4.5 to -0.9% pred. (P = 0.043). Reduction in number of days on antibiotic treatment and hospital stays was 21% (P < 0.001) and 75% (P = 0.003), respectively. Improvement and stabilization of lung function was observed for up to six years of treatment. In a patient with severe airway obstruction, an increase in the FEV1 value (30.4% from baseline) was documented during the first twelve months of treatment. Conclusion. Ivacaftor therapy resulted in improved and stabilized lung function in up to six years of treatment with a reduction in number of days on antibiotic treatment and hospital stays. Its efficiency was also displayed in a patient with severe airway obstruction. [ABSTRACT FROM AUTHOR]

Published
2016
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35. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

Author

Steiner, Bernhard, primary, Rosendahl, Jonas, additional, Witt, Heiko, additional, Teich, Niels, additional, Keim, Volker, additional, Schulz, Hans-Ulrich, additional, Pfützer, Roland, additional, Löhr, Matthias, additional, Gress, Thomas M., additional, Nickel, Renate, additional, Landt, Olfert, additional, Koudova, Monika, additional, Macek Jr, Milan, additional, Farre, Antoni, additional, Casals, Teresa, additional, Desax, Marie-Claire, additional, Gallati, Sabina, additional, Gomez-Lira, Macarena, additional, Audrezet, Marie Pierre, additional, Férec, Claude, additional, des Georges, Marie, additional, Claustres, Mireille, additional, and Truninger, Kaspar, additional

Published
2012
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38. Genetic Modifiers of Liver Disease in Cystic Fibrosis.

Author

Bartlett, Jaclyn R., Friedman, Kenneth J., Ling, Simon C., Pace, Rhonda G., Bell, Scott C., Bourke, Billy, Castaldo, Giuseppe, Castellani, Carlo, Cipolli, Marco, Colombo, Carla, Colombo, John L., Debray, Dominique, Fernandez, Adriana, Lacaille, Florence, Macek Jr., Milan, Salvatore, Marion Rowland Francesco, Taylor, Christopher J., Wainwright, Claire, Wilschanski, Michael, and Zemková, Dana

Subjects
GENETIC polymorphisms, LIVER diseases, CYSTIC fibrosis, PORTAL hypertension, GENES, GENETICS
Abstract

The article details a study which examined if any of the nine polymorphisms in five candidate genes are associated with severe liver disease in patients diagnosed with cystic fibrosis (CF). The study included 124 patients with CF and severe liver disease with portal hypertension (CFLD) from centers in the U.S., Canada and outside of North America and 843 control subjects. The differences in the distribution of genotypes in the study population were analyzed. Study authors found that SERPINA1 Z allele is a risk factor for the development of liver disease in patients with CF.

Published
2009
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39. Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

Author

Rosendahl, Jonas, Witt, Heiko, Szmola, Richárd, Bhatia, Eesh, Ózsvári, Béla, Landt, Olfert, Schulz, Hans-Ulrich, Gress, Thomas M., Pfützer, Roland, Löhr, Matthias, Kovacs, Peter, Blüher, Matthias, Stumvoll, Michael, Choudhuri, Gourdas, Hegyi, Péter, te Morsche, René H. M., Drenth, Joost P. H., Truninger, Kaspar, Macek Jr, Milan, and Puhl, Gero

Subjects
CHYMOTRYPSIN, PANCREATITIS, DIGESTIVE enzymes, SERINE proteinases, MEDICAL genetics
Abstract

Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the digestive protease trypsin has a fundamental pathogenetic role. Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis. Two alterations in this gene, p.R254W and p.K247_R254del, were significantly overrepresented in the pancreatitis group, being present in 30 of 901 (3.3%) affected individuals but only 21 of 2,804 (0.7%) controls (odds ratio (OR) = 4.6; confidence interval (CI) = 2.6–8.0; P = 1.3 × 10−7). A replication study identified these two variants in 10 of 348 (2.9%) individuals with alcoholic chronic pancreatitis but only 3 of 432 (0.7%) subjects with alcoholic liver disease (OR = 4.2; CI = 1.2–15.5; P = 0.02). CTRC variants were also found in 10 of 71 (14.1%) Indian subjects with tropical pancreatitis but only 1 of 84 (1.2%) healthy controls (OR = 13.6; CI = 1.7–109.2; P = 0.0028). Functional analysis of the CTRC variants showed impaired activity and/or reduced secretion. The results indicate that loss-of-function alterations in CTRC predispose to pancreatitis by diminishing its protective trypsin-degrading activity. [ABSTRACT FROM AUTHOR]

Published
2008
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40. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.

Author

Férec, Claude, Casals, Teresa, Chuzhanova, Nadia, Macek Jr., Milan, Bienvenu, Thierry, Holubova, Andrea, King, Caitriona, McDevitt, Trudi, Castellani, Carlo, Farrell, Philip M, Sheridan, Molly, Pantaleo, Sarah-Jane, Loumi, Ourida, Messaoud, Taieb, Cuppens, Harry, Torricelli, Francesca, Cutting, Garry R, Williamson, Robert, Ramos, Maria Jesus Alonso, and Pignatti, Pier Franco

Subjects
CYSTIC fibrosis, GENOMICS, GENES, CHROMOSOMES, GENETIC mutation
Abstract

Gross genomic rearrangements involving deletions in the CFTR gene have recently been found to account for ∼20% of unidentified cystic fibrosis (CF) chromosomes in both French and Italian patients. Using QMPSF and walking quantitative DHPLC, six novel mutations (three simple deletions, two complex deletions with short insertions of 3–6 bp, and a complex deletion with a 182 bp inverted downstream sequence) were characterized by screening 274 unidentified CF chromosomes from 10 different countries. These lesions increase the total number of fully characterized large CFTR genomic rearrangements involving deletions to 21. Systematic analysis of the 42 associated breakpoints indicated that all 21 events were caused by nonhomologous recombination. Whole gene complexity analysis revealed a significant correlation between regions of low sequence complexity and the locations of the deletion breakpoints. Known recombination-promoting motifs were noted in the vicinity of the breakpoints. A total of 11 simple deletions were potentially explicable in terms of the classical model of replication slippage. However, the complex deletions appear to have arisen via multiple mechanisms; three of the five complex deletions with short insertions and both examples of large inverted insertions (299 and 182 bp, respectively) can be explained by either a model of serial replication slippage in cis (SRScis) or SRS in trans (SRStrans). Finally, the nature and distribution of large genomic rearrangements in the CFTR gene were compared and contrasted with those of two other genes, DMD and MSH2, with a view to gaining a broader understanding of DNA sequence context in mediating the diverse underlying mutational mechanisms.European Journal of Human Genetics (2006) 14, 567–576. doi:10.1038/sj.ejhg.5201590; published online 22 February 2006 [ABSTRACT FROM AUTHOR]

Published
2006
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41. Association of human aging with a functional variant of klotho.

Author

Arking, Dan E., Krebsova, Alice, Macek Sr., Milan, Macek Jr., Milan, Arking, Albert, Mian, I. Saira, Fried, Linda, Hamosh, Ada, Dey, Srabani, McIntosh, Iain, and Dietz, Harry C.

Subjects
MICE, AGING, GENETICS
Abstract

Analyzes the relation of human aging with the functional variant of klotho. Reduction on the secreted levels of Klotho harboring V352; Effect of F289V substitution on the ability of F289V to cleave; Influence of KL-VS allele on the trafficking and catalytic activity of Klotho.

Published
2002
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42. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

Author

Dörk, Thilo, Macek Jr., Milan, Mekus, Frauke, Tümmler, Burkhard, Tzountzouris, John, Casals, Teresa, Krebsová, Alice, Koudová, Monika, Sakmaryová, Iva, Macek Sr., Milan, Vávrová, Vecaron;ra, Zemková, Dana, Ginter, Evgeny, Petrova, Nica V., Ivaschenko, Tatiana, Baranov, Vladislav, Witt, Michal, Pogorzelski, Andrzej, Bal, Jerzy, and Zékanowsky, Cesary

Subjects
CYSTIC fibrosis, GENETIC disorders, MOLECULAR genetics, MEDICAL genetics, HUMAN genetics, HUMAN biology, GENETICS
Abstract

We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1–3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for ΔF508/CFTRdele2,3(21 kb) with pairwise-matched ΔF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM.19 "A" and the same infrequent intragenic microsatellite haplotype 16–33–13 (IVS8CA-IVS17bTA-IVS17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent. [ABSTRACT FROM AUTHOR]

Published
2000
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43. A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.

Author

Mickle, John E., Macek Jr, Milan, Fulmer‐Smentek, Stephanie B., Egan, Michelle M., Schwiebert, Erik, Guggino, William, Moss, Richard, and Cutting, Garry R.

Abstract

Studies a mutation in the cystic fibrosis transmemrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis. Functional role in the sweat gland for the C-terminus of CFTR; Description of cystic fibrosis.

Published
1998

47. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

Author

Delanty, Norman, Fisher, Simon E, Byerley, William F., Wendland, Jens R, Craddock, Nick, Ferrucci, Luigi, Fanous, Ayman H, Mather, Karen A., Li, Miaoxin, Martin, Nicholas G., Melle, Ingrid, Cohen, David, Pütz, Benno, Keller, Matthew C, Ann Chong, Siow, St Clair, David, Eichhammer, Peter, Seidman, Larry J., Jack, Clifford R., Drevets, Wayne C, Meyer-Lindenberg, Andreas, Yao, Yin, Müller-Myhsok, Bertram, Qin Wu, Jing, Dikeos, Dimitris, Albus, Margot, Lopez, Lorna M., Mowry, Bryan J., Dale, Anders M., Carless, Melanie A., Kucinskas, Vaidutis, Kähler, Anna K., Roiz-Santiañez, Roberto, Pocklington, Andrew J., Simon Xi, Hualin, Wen, Wei, O'Donovan, Michael C., Ramasamy, Adaikalavan, O'Dushlaine, Colm, Djurovic, Srdjan, Fox, Peter T., Hegenscheid, Katrin, Kochunov, Peter, Schmaal, Lianne, Lencz, Todd, Penninx, Brenda W.J.H., Cookson, Mark R., Black, Donald W., Freedman, Robert, Levinson, Douglas F., Hartberg, Cecilie B., Dudbridge, Frank, Laurent, Claudine, Valdés Hernández, Maria C., Straub, Richard E., Hulshoff Pol, Hilleke E., Mattingsdal, Morten, Nelis, Mari, Liang, Kung-Yee, Wolf, Christiane, Walsh, Dermot, Reichenberg, Abraham, Klein, Marieke, Cai, Guiqing, Szatkiewicz, Jin P., Wassink, Thomas H., Li, Qingqin S., Scott Stroup, Limborska, Svetlana, Drapeau, Elodie, Royle, Natalie A., Amin, Farooq, Espeseth, Thomas, Hoogman, Martine, Stahl, Eli A., Knight, Jo, Hofman, Andrea, Fromer, Menachem, Arias-Vasquez, Alejandro, Gurling, Hugh, van Haren, Neeltje E.M., Nyquist, Paul, Holsboer, Florian, Nestadt, Gerald, Aribisala, Benjamin S., Lerer, Bernard, Brouwer, Rachel M., Svrakic, Dragan M, Keil, Maria, Homuth, Georg, Kuzelova-Ptackova, Hana, Van Os, Jim, Johnson, Robert, Lee Chee Keong, Jimmy, Guadalupe, Tulio, Hashimoto, Ryota, Holmans, Peter A., Franke, Barbara, Parkhomenko, Elena, Liu, Xinmin, Brunner, Han G, van Tol, Marie-Jose, Schall, Ulrich, Heslenfeld, Dirk J., Zheng, Xuebin, Salomaa, Veikko, Schulze, Thomas G., Meijer, Carin J., Zonderman, Alan, Nilsson, Lars G., Nikitina-Zake, Liene, Rietschel, Marcella, Rosen, Glenn D., Buitelaar, Jan K, Del Favero, Jurgen, Nalls, Michael A., Blackwood, Douglas H.R., Fernández, Guillén, Loughland, Carmel M., Olvera, Rene L., van 't Ent, Dennis, Crowley, James J., Perkins, Diana O., Desrivières, Sylvane, Sussmann, Jessika E., Paus, Tomas, Luting, Xue, Rasmussen, Henrik B, Nichols, Thomas E., Cairns, Murray J., Grimm, Oliver, Weiner, Michael W., Visscher, Peter M., Bevilacqua, Elizabeth, Zai, Clement C., Sämann, Philipp G., Cheung, Eric F.C., Curtis, David, Marsal, Sara, Matarin, Mar, Gibbs, Raphael, Suvisaari, Jaana, O'Neill, F. Anthony, Pike, G. Bruce, Iwata, Nakao, Chambert, Kimberley D., Ryten, Mina, Steen, Vidar M., Klovins, Janis, Giddaluru, Sudheer, Toro, Roberto, Ehrenreich, Hannelore, Alexander, Madeline, Mokrab, Younes, Nertney, Deborah A, Bacanu, Silviu A., Fukunaga, Masaki, Bernard, Manon, Ching, Christopher R.K., Czisch, Michael, Walton, Esther, Hoffmann, Wolfgang, Mohnke, Sebastian, Ophoff, Roel A., Shen, Li, LeHellard, Stephanie, Kent, Jack W., van Duijn, Cornelia M., Roussos, Panos, Papiol, Sergi, Hougaard, David M., Reimers, Mark A., van Hulzen, Kimm J.E., Anttila, Verneri, Göring, Harald H.H., Pandolfo, Massimo, Pietiläinen, Olli, Ohi, Kazutaka, Mesholam-Gately, Raquelle I., Mattay, Venkata S., Demontis, Ditte, Davidson, Michael, Powell, John, Belliveau, Richard A, Jenkinson, Mark, Nisenbaum, Laura, Campion, Dominique, Stein, Jason L, Depondt, Chantal, Hosten, Norbert, Schofield, Peter R., Bis, Joshua C., Singleton, Andrew, Walter, Henrik, Heinz, Andreas, Hoekstra, Pieter J., Stogmann, Elisabeth, Medland, Sarah E., Lönnqvist, Jouko, Donohoe, Gary, Hirschhorn, Joel N., Sisodiya, Sanjay M., Sullivan, Patrick F., Domenici, Enrico, van Bokhoven, Hans, van Donkelaar, Marjolein M.J., Chakravarty, M. Mallar, Michie, Patricia T., Duggirala, Ravi, Zimprich, Fritz, Hollegaard, Mads V, Meisenzahl, Eva, Liewald, David C.M., Bulayeva, Kazima B., Cavalleri, Gianpiero L., Bene, Judit, Höhn, David, Rose, Emma J., Werge, Thomas, McDonald, Colm, Palotie, Aarno, Knowles, James A., Catts, Stanley V., Richards, Alexander L., Chen, Eric Y.H., Price, Alkes, Webb, Bradley T., Makkinje, Remco R.R., Lieberman, Jeffrey, de Geus, Eco J.C., Joa, Inge, McIntosh, Andrew M., Schwarz, Emanuel, Milani, Lili, Tooney, Paul A., Naber, Marlies A.M., Arepalli, Sampath, Magnusson, Patrik K.E., Kasperaviciute, Dalia, Abramovic, Lucija, Hottenga, Jouke-Jan, Papadimitriou, George N., Vinke, Louis N, Wang, Qiang, Hernandez, Dena G., Needham, Margaret, Brown, Andrew A., Giusti-Rodríguez, Paola, Herms, Stefan L., Mallet, Jacques, Schubert, Christian R, Kendler, Kenneth S., Sklar, Pamela, Ripke, Stephan, Mühleisen, Thomas W., Hibar, Derrek P., Silverman, Jeremy M., Cannon, Dara M, Frank, Josef, Longstreth, McKay, David R., Hong Lee, Erk, Susanne, Chen, Qiang, Ho, Yvonne Y.W., Pato, Carlos N., Milanova, Vihra, Godard, Stephanie, Melegh, Bela, Launer, Lenore J, Seiler, Stephan, Schumann, Gunter, Ehrlich, Stefan, Murphy, Kieran C., Nugent, Allison C., Henskens, Frans A., Jönsson, Erik G., Farh, Kai-How, Metspalu, Andres, Kirov, George, Wardlaw, Joanna M., Holmes, Avram J., Crespo-Facorro, Benedicto, Ho, Beng-Choon, Strike, Lachlan T., Kim, Sungeun, Gill, Michael, Bruggeman, Richard, Shi, Jianxin, Dillman, Allissa, Rujescu, Dan, Saykin, Andrew J., Ames, David, Longo, Dan L., Cantor, Rita M., van der Brug, Marcel, Thompson, Paul M., Yanek, Lisa, Reppermund, Simone, Nordin, Annelie, Gratten, Jacob, Athanasiu, Lavinia, Karjalainen, Juha, Witt, Stephanie H., Reinvang, Ivar, Huang, Hailiang, Hass, Johanna, Potkin, Steven G., Williams, Robert W., Chan, Raymond C.K., Sham, Pak C., Gejman, Pablo V., Daly, Mark J., Dyer, Thomas D., Nho, Kwangsik, Nöthen, Markus M., Ikram, M. Arfan, Pimm, Jonathan, Shin, Jean, Mostert, Jeanette C., Alhusaini, Saud, Scott, Rodney J., Jablensky, Assen V., Strohmaier, Jana, Bastin, Mark E., Wang, Dai, Hakobjan, Marina M.H., Janowitz, Deborah, Cohen, Nadine, Quested, Digby, Essioux, Laurent, Greve, Douglas, Francks, Clyde, Milaneschi, Yuri, Glahn, David C., Grabe, Hans J., Degenhardt, Franziska, Heister, Angelien J.G.A.M., Riley, Brien P., van der Bruggeman, Marcel, Maier, Wolfgang, Andersson, Micael, Schnell, Knut, Carrera, Noa, Goldman, Aaron L., Mecocci, Patrizia, Mallar Chakravarty, Buccola, Nancy G., Adolfsson, Rolf, Toncheva, Draga, Boomsma, Dorret I., Fedko, Iryna O., Hartmann, Annette M., Murray, Robin M., Meier, Sandra, Liu, Jianjun, Adams, Hieab H.H., Mors, Ole, Franke, Lude, Olincy, Ann, Woldehawariat, Girma, Friedman, Joseph I., Kanai, Ryota, Khrunin, Andrey, Veijola, Juha, Lee, Phil, Luciano, Michelle, Renteria, Miguel E., Malhotra, Anil K., Myin-Germeys, Inez, Haukvik, Unn, Söderman, Erik, van der Lee, Sven J., Zielke, Ronald H., Kim, Yunjung, Wray, Naomi R., Gruber, Oliver, Lawrie, Stephen M., Chee Keong, Jimmy Lee, Nyberg, Lars, Olsen, Line, Soininen, Hilkka, Troncoso, Juan, Kalaydjieva, Luba, Weale, Michael E., Turner, Jessica A., Paunio, Tiina, Kloszewska, Iwona, Bramon, Elvira, Sanders, Alan R., Hansen, Mark, Chen, Ronald Y.L., White, Tonya, McCarroll, Steven A., Posthuma, Danielle, Darvasi, Ariel, Kwok, John B., Hardy, John, Curran, Joanne E., Corvin, Aiden, Romanczuk-Seiferth, Nina, McMahon, Katie L., Hamshere, Marian L., Wittfeld, Katharina, Duan, Jubao, Maher, Brion S., Assareh, Amelia A., Esko, Tõnu, Deary, Ian J., McCarley, Robert W., Williams, Nigel M., Nauck, Matthias, Thirumalai, Srinivas, Walters, James T.R., Weinberger, Daniel R., Toga, Arthur W., Collier, David A., Purcell, Shaun M., Gudnason, Vilmundur, Kennedy, James L., Lu, Lu, Cichon, Sven, Montgomery, Grant W., Zwiers, Marcel P, Ikeda, Masashi, Pers, Tune H., Sprooten, Emma, Kraemer, Bernd, Hoffmann, Per, Pantelis, Christos, Schmidt, Reinhold, van der Wee, Nic J.A., van Eijk, Kristel R., Cahn, Wiepke, Macare, Christine, Dinan, Timothy, Ebling, Maritza, Børglum, Anders D., Farrell, Martilias S., Hultman, Christina M., Nicodemus, Kristin K., Agerbo, Esben, Foroud, Tatiana M., Neale, Benjamin M., Legge, Sophie E., Hansell, Narelle K., Arfan Ikram, Papmeyer, Martina, Pausova, Zdenka, Hammer, Christian, Thalamuthu, Anbupalam, Andreassen, Ole A., Westman, Eric, Pato, Michele T., Trabzuni, Daniah, Calhoun, Vince D., Lubinski, Jan, Westlye, Lars T., So, Hon-Cheong, Giegling, Ina, Gershon, Elliot S., Kahn, René S., Neale, Michael C., Winkler, Anderson M., Bigdeli, Tim B., Bulik-Sullivan, Brendan, Nenadic, Igor, Weiser, Mark, Jia, Tianye, Strengman, Eric, Mattheisen, Manuel, Völzke, Henry, Veltman, Dick J., Kavanagh, David, Hansen, Thomas, Cuellar-Partida, Gabriel, McQuillin, Andrew, Wright, Margaret J., Schork, Andrew J., McMahon, Francis J., Cheng, Wei, Bohlken, Marc M., DeLisi, Lynn E., van der Marel, Saskia S.L., Smoller, Jordan W., Davis, Kenneth L., Georgieva, Lyudmila, Satizabal, Claudia L., Schwab, Sibylle G., Konte, Bettina, Subramaniam, Mythily, O'Callaghan, Eadbhard, Seshadri, Sudha, Bralten, Janita, de Haan, Lieuwe, Whelan, Christopher D., Karachanak-Yankova, Sena, Carr, Vaughan J., Gollub, Randy L., Wong, Emily H.M., Goldstein, Jacqueline I., Gopal, Srihari, Morris, Derek W., Teumer, Alexander, Wolen, Aaron R., Davies, Gareth E., Perez-Iglesias, Rocio, Brodaty, Henry, Petryshen, Tracey L., Guelfi, Sebastian, Cormican, Paul, Simmons, Andy, Mazoyer, Bernard, Roffman, Joshua L., Ausrele Kucinskiene, Zita, Lovestone, Simon, Ashbrook, David G., Genovese, Giulio, Becker, James T., Haroutunian, Vahram, Green, Robert C., Scolnick, Edward M., Salami, Alireza, Agartz, Ingrid, Hartman, Catharina A., Eriksson, Johan, Almasy, Laura, Ruderfer, Douglas M., Macek Jr, Milan, Risacher, Shannon L., Olde Loohuis, Loes M., Smith, Colin, Freimer, Nelson B., Buckner, Randy L., Begemann, Martin, Sachdev, Perminder S., Boks, Marco P., Walters, Raymond K., Oh, Sang-Yun, Wildenauer, Dieter B., Wormley, Brandon K., Armstrong, Nicola J., Li, Tao, Spencer, Chris C.A., Owen, Michael J., Williams, Stephanie, Julià, Antonio, Escott-Price, Valentina, Moran, Jennifer L., Blangero, John, Mortensen, Preben B., Buxbaum, Joseph D., Slominsky, Petr, Sim, Kang, Pulver, Ann E., de Zubicaray, Greig I., Jahanshad, Neda, Fischl, Bruce, Kelly, Brian J., Chauhan, Ganesh, Traynor, Bryan, Robert Cloninger, Schmidt, Helena, Bergen, Sarah E., den Braber, Anouk, Hager, Reinmar, and Waddington, John

Subjects
3. Good health
Abstract

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between schizophrenia cases and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. The current study provides proof-of-concept (albeit based on a limited set of structural brain measures), and defines a roadmap for future studies investigating the genetic covariance between structural/functional brain phenotypes and risk for psychiatric disorders.

49. EuroGentest: Quality Management and accreditation of genetic testing services.

Author

Barton, David E., Hastings, Ros J., Berwouts, Sarah, Brady, Christine, Corbisier, Philippe, Corveleyn, Anniek, Elles, Rob, Fowler, Brian, Gancberg, David, Litynski, Piotr, Macek Jr., Milan, Malburg, Ute, Matthijs, Gert, Morris, Michael, Mueller, Clemens, Nagels, Nick, Quellhorst-Pawley, Bettina, Stambergova, Alexandra, Vermeesch, Jan, and Vickers, Kate

Abstract

The EuroGentest network aims to improve and harmonize the quality of genetic services in Europe, from test development through to information for patients. The network encompasses Biochemical, Clinical, Cyto- and Molecular Genetics, Genetic Counselling and patient groups. Since January 2005, the EuroGentest Quality Management group has disseminated information on accreditation through five international workshops. A database on the current status of QAu in European genetic testing services will soon be publicly available. On the EuroGentest website, laboratories can find the EQA scheme most appropriate to their needs through discipline specific registers of schemes in Europe. All three laboratory disciplines have expanded their repertoire of EQA including a pilot pan-European cytogenetics scheme, CEQA. Minimum quality guidelines have been published for cytogenetics and some biochemical analytes. Draft guidelines for microarrays will be published later this year. In collaboration with EMQN, best practice meetings will be organised in 2007 for Familial Breast Cancer, Spinocerebellar Ataxias and Maturity Onset Diabetes of the Young to generate consensus guidelines. Finally QCMs for Prader-Willi/Angelman syndromes are being developed and validation of MLPA, diagnostic CF-testing kits and DNA extraction methods are in progress through a core group of accredited laboratories with reports due this year. [ABSTRACT FROM AUTHOR]

Published
2008

50. Effects of Cystic Fibrosis and Congenital Bilateral Absence of the Vas Deferens-Associated Mutations on Cystic Fibrosis Transmembrane Conductance Regulator-Mediated Regulation of Separate Channels.

Author

Mickle, John E., Milewski, Michal I., Macek Jr., Milan, and Cutting, Garry R.

Subjects
*CYSTIC fibrosis, *GENETIC mutation
Abstract

Examines the effects of cystic fibrosis and congenital bilateral absence of vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator (CFTR)-mediated regulation of separate channels. Inability to detect mature glycosylated forms for mutants; Presence of CFTR in the plasma membrane; Evaluation of CFTR processing in HEK 293 cells.

Published
2000
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