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1. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Author

Banks, Emily, Francis, Vincent, Lin, Sheng-Jia, Kharfallah, Fares, Fonov, Vladimir, Lévesque, Maxime, Han, Chanshuai, Kulasekaran, Gopinath, Tuznik, Marius, Bayati, Armin, Al-Khater, Reem, Alkuraya, Fowzan S., Argyriou, Loukas, Babaei, Meisam, Bahlo, Melanie, Bakhshoodeh, Behnoosh, Barr, Eileen, Bartik, Lauren, Bassiony, Mahmoud, Bertrand, Miriam, Braun, Dominique, Buchert, Rebecca, Budetta, Mauro, Cadieux-Dion, Maxime, Calame, Daniel G., Cope, Heidi, Cushing, Donna, Efthymiou, Stephanie, Elmaksoud, Marwa Abd, El Said, Huda G., Froukh, Tawfiq, Gill, Harinder K., Gleeson, Joseph G., Gogoll, Laura, Goh, Elaine S.-Y., Gowda, Vykuntaraju K., Haack, Tobias B., Hashem, Mais O., Hauser, Stefan, Hoffman, Trevor L., Hogue, Jacob S., Hosokawa, Akimoto, Houlden, Henry, Huang, Kevin, Huynh, Stephanie, Karimiani, Ehsan G., Kaulfuß, Silke, Korenke, G. Christoph, Kritzer, Amy, Lee, Hane, Lupski, James R., Marco, Elysa J., McWalter, Kirsty, Minassian, Arakel, Minassian, Berge A., Murphy, David, Neira-Fresneda, Juanita, Northrup, Hope, Nyaga, Denis M., Oehl-Jaschkowitz, Barbara, Osmond, Matthew, Person, Richard, Pehlivan, Davut, Petree, Cassidy, Sadleir, Lynette G., Saunders, Carol, Schoels, Ludger, Shashi, Vandana, Spillmann, Rebecca C., Srinivasan, Varunvenkat M., Torbati, Paria N., Tos, Tulay, Zaki, Maha S., Zhou, Dihong, Zweier, Christiane, Trempe, Jean-François, Durcan, Thomas M., Gan-Or, Ziv, Avoli, Massimo, Alves, Cesar, Varshney, Gaurav K., Maroofian, Reza, Rudko, David A., and McPherson, Peter S.

Published
2024
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2. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., and Carvill, Gemma L.

Published
2024
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3. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Author

Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennet, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Delgado, Margaret, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fu, Jiayu, Gahl, William A., Glass, Ian, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine, Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Sharma, Prashant, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin, Sinsheimer, Janet, Sisco, Kathy, Smith, Edward, Smith, Kevin, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca, Stergachis, Andrew, Stoler, Joan, Sullivan, Kathleen, Sullivan, Jennifer, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia, Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Niggl, Eva, Bouman, Arjan, Hoogenboezem, Remco M., Wallaard, Ilse, Park, Joohyun, Admard, Jakob, Wilke, Martina, Harris-Mostert, Emilio D.R.O., Elgersma, Minetta, Bain, Jennifer, Balasubramanian, Meena, Banka, Siddharth, Benke, Paul J., Bertrand, Miriam, Blesson, Alyssa E., Clayton-Smith, Jill, Ellingford, Jamie M., Gillentine, Madelyn A., Goodloe, Dana H., Haack, Tobias B., Jain, Mahim, Krantz, Ian, Luu, Sharon M., McPheron, Molly, Muss, Candace L., Raible, Sarah E., Robin, Nathaniel H., Spiller, Michael, Starling, Susan, Thiffault, Isabelle, Vetrini, Francesco, Witt, Dennis, Woods, Emily, Zhou, Dihong, Elgersma, Ype, and van Esbroeck, Annelot C.M.

Published
2023
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4. Insurance denials and diagnostic rates in a pediatric genomic research cohort

Author

Zion, Tricia N., Berrios, Courtney D., Cohen, Ana S.A., Bartik, Lauren, Cross, Laura A., Engleman, Kendra L., Fleming, Emily A., Gadea, Randi N., Hughes, Susan S., Jenkins, Janda L., Kussmann, Jennifer, Lawson, Caitlin, Schwager, Caitlin, Strenk, Meghan E., Welsh, Holly, Rush, Eric T., Amudhavalli, Shivarajan M., Sullivan, Bonnie R., Zhou, Dihong, Gannon, Jennifer L., Heese, Bryce A., Moore, Riley, Boillat, Emelia, Biswell, Rebecca L., Louiselle, Daniel A., Puckett, Laura M.B., Beyer, Shanna, Neal, Shelby H., Sierant, Victoria, McBeth, Macy, Belden, Bradley, Walter, Adam M., Gibson, Margaret, Cheung, Warren A., Johnston, Jeffrey J., Thiffault, Isabelle, Farrow, Emily G., Grundberg, Elin, and Pastinen, Tomi

Published
2023
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5. Composite Sleep Problems Observed across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD

Author

Gandhi, Anusha, Zhou, Dihong, Alaimo, Joseph, Chon, Edwin, Fountain, Michael D., and Elsea, Sarah H.

Abstract

Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals.

Published
2021
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6. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Author

Paul, Maimuna S., primary, Michener, Sydney L., additional, Pan, Hongling, additional, Chan, Hiuling, additional, Pfliger, Jessica M., additional, Rosenfeld, Jill A., additional, Lerma, Vanesa C., additional, Tran, Alyssa, additional, Longley, Megan A., additional, Lewis, Richard A., additional, Weisz-Hubshman, Monika, additional, Bekheirnia, Mir Reza, additional, Bekheirnia, Nasim, additional, Massingham, Lauren, additional, Zech, Michael, additional, Wagner, Matias, additional, Engels, Hartmut, additional, Cremer, Kirsten, additional, Mangold, Elisabeth, additional, Peters, Sophia, additional, Trautmann, Jessica, additional, Perne, Claudia, additional, Mester, Jessica L., additional, Guillen Sacoto, Maria J., additional, Person, Richard, additional, McDonnell, Pamela P., additional, Cohen, Stacey R., additional, Lusk, Laina, additional, Cohen, Ana S.A., additional, Le Pichon, Jean-Baptiste, additional, Pastinen, Tomi, additional, Zhou, Dihong, additional, Engleman, Kendra, additional, Racine, Caroline, additional, Faivre, Laurence, additional, Moutton, Sébastien, additional, Denommé-Pichon, Anne-Sophie, additional, Koh, Hyun Yong, additional, Poduri, Annapurna, additional, Bolton, Jeffrey, additional, Knopp, Cordula, additional, Julia Suh, Dong Sun, additional, Maier, Andrea, additional, Toosi, Mehran Beiraghi, additional, Karimiani, Ehsan Ghayoor, additional, Maroofian, Reza, additional, Schaefer, Gerald Bradley, additional, Ramakumaran, Vijayalakshmi, additional, Vasudevan, Pradeep, additional, Banos-Pinero, Benito, additional, Pagnamenta, Alistair T., additional, Prasad, Chitra, additional, Osmond, Matthew, additional, Schuhmann, Sarah, additional, Vasileiou, Georgia, additional, Russ-Hall, Sophie, additional, Scheffer, Ingrid E., additional, Carvill, Gemma L., additional, Mefford, Heather, additional, Bacino, Carlos A., additional, Lee, Brendan H., additional, and Chao (趙孝端), Hsiao-Tuan, additional

Published
2024
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7. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Author

Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V.Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., and Bezzina, Connie R.

Published
2021
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8. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E. H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., and Kleefstra, Tjitske

Published
2021
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9. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Author

De Pace, Raffaella, primary, Maroofian, Reza, additional, Paimboeuf, Adeline, additional, Zamani, Mina, additional, Zaki, Maha S, additional, Sadeghian, Saeid, additional, Azizimalamiri, Reza, additional, Galehdari, Hamid, additional, Zeighami, Jawaher, additional, Williamson, Chad D, additional, Fleming, Emily, additional, Zhou, Dihong, additional, Gannon, Jennifer L, additional, Thiffault, Isabelle, additional, Roze, Emmanuel, additional, Suri, Mohnish, additional, Zifarelli, Giovanni, additional, Bauer, Peter, additional, Houlden, Henry, additional, Severino, Mariasavina, additional, Patten, Shunmoogum A, additional, Farrow, Emily, additional, and Bonifacino, Juan S, additional

Published
2023
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10. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Author

Pace, Raffaella De, Maroofian, Reza, Paimboeuf, Adeline, Zamani, Mina, Zaki, Maha S, Sadeghian, Saeid, Azizimalamiri, Reza, Galehdari, Hamid, Zeighami, Jawaher, Williamson, Chad D, Fleming, Emily, Zhou, Dihong, Gannon, Jennifer L, Thiffault, Isabelle, Roze, Emmanuel, Suri, Mohnish, Zifarelli, Giovanni, Bauer, Peter, Houlden, Henry, and Severino, Mariasavina

Subjects
NEURODEGENERATION, SPASTICITY, GENETIC variation, CENTRAL nervous system, SIZE of brain, FAMILIAL spastic paraplegia
Abstract

BLOC-one-related complex (BORC) is a multiprotein complex composed of eight subunits named BORCS1–8. BORC associates with the cytosolic face of lysosomes, where it sequentially recruits the small GTPase ARL8 and kinesin-1 and -3 microtubule motors to promote anterograde transport of lysosomes toward the peripheral cytoplasm in non-neuronal cells and the distal axon in neurons. The physiological and pathological importance of BORC in humans, however, remains to be determined. Here, we report the identification of compound heterozygous variants [missense c.85T>C (p.Ser29Pro) and frameshift c.71-75dupTGGCC (p.Asn26Trpfs*51)] and homozygous variants [missense c.196A>C (p.Thr66Pro) and c.124T>C (p.Ser42Pro)] in BORCS8 in five children with a severe early-infantile neurodegenerative disorder from three unrelated families. The children exhibit global developmental delay, severe-to-profound intellectual disability, hypotonia, limb spasticity, muscle wasting, dysmorphic facies, optic atrophy, leuko-axonopathy with hypomyelination, and neurodegenerative features with prevalent supratentorial involvement. Cellular studies using a heterologous transfection system show that the BORCS8 missense variants p.Ser29Pro, p.Ser42Pro and p.Thr66Pro are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution toward the cell periphery. The BORCS8 frameshift variant p.Asn26Trpfs*51, on the other hand, is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution toward the cell periphery. Therefore, all the BORCS8 variants are partial or total loss-of-function alleles and are thus likely pathogenic. Knockout of the orthologous borcs8 in zebrafish causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. These findings thus identify BORCS8 as a novel genetic locus for an early-infantile neurodegenerative disorder and highlight the critical importance of BORC and lysosome dynamics for the development and function of the central nervous system. [ABSTRACT FROM AUTHOR]

Published
2024
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11. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Author

Niggl, Eva, primary, Bouman, Arjan, additional, Briere, Lauren C., additional, Hoogenboezem, Remco M., additional, Wallaard, Ilse, additional, Park, Joohyun, additional, Admard, Jakob, additional, Wilke, Martina, additional, Harris-Mostert, Emilio D.R.O., additional, Elgersma, Minetta, additional, Bain, Jennifer, additional, Balasubramanian, Meena, additional, Banka, Siddharth, additional, Benke, Paul J., additional, Bertrand, Miriam, additional, Blesson, Alyssa E., additional, Clayton-Smith, Jill, additional, Ellingford, Jamie M., additional, Gillentine, Madelyn A., additional, Goodloe, Dana H., additional, Haack, Tobias B., additional, Jain, Mahim, additional, Krantz, Ian, additional, Luu, Sharon M., additional, McPheron, Molly, additional, Muss, Candace L., additional, Raible, Sarah E., additional, Robin, Nathaniel H., additional, Spiller, Michael, additional, Starling, Susan, additional, Sweetser, David A., additional, Thiffault, Isabelle, additional, Vetrini, Francesco, additional, Witt, Dennis, additional, Woods, Emily, additional, Zhou, Dihong, additional, Elgersma, Ype, additional, van Esbroeck, Annelot C.M., additional, Ambrose, J.C., additional, Arumugam, P., additional, Bevers, R., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boustred, C.R., additional, Brittain, H., additional, Brown, M.A., additional, Caulfield, M.J., additional, Chan, G.C., additional, Giess, A., additional, Griffin, J.N., additional, Hamblin, A., additional, Henderson, S., additional, Hubbard, T.J.P., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Kousathanas, A., additional, Lahnstein, L., additional, Lakey, A., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, Maleady-Crowe, F., additional, McEntagart, M., additional, Minneci, F., additional, Mitchell, J., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, O‘Donovan, P., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Pereira, M.B., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Rogers, T., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smith, S.C., additional, Sosinsky, A., additional, Stuckey, A., additional, Tanguy, M., additional, Taylor Tavares, A.L., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Welland, M.J., additional, Williams, E., additional, Witkowska, K., additional, Wood, S.M., additional, Zarowiecki, M., additional, Acosta, Maria T., additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Allworth, Aimee, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Afzali, Ben, additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennet, Jimmy, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D'Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Delgado, Margaret, additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fu, Jiayu, additional, Gahl, William A., additional, Glass, Ian, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Grajewski, Alana, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hanchard, Neal, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yan, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Kaitryn, Emerald, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine, additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Might, Matthew, additional, Miller, Danny, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Petcharet, Leoyklang, additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Swerdzewski, Barbara N., additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe, additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenthal, Elizabeth, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sabaii, Marla, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Seto, Elaine, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shelkowitz, Emily, additional, Sheppeard, Sam, additional, Shin, Jimann, additional, Silverman, Edwin, additional, Sinsheimer, Janet, additional, Sisco, Kathy, additional, Smith, Edward, additional, Smith, Kevin, additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca, additional, Stergachis, Andrew, additional, Stoler, Joan, additional, Sullivan, Kathleen, additional, Sullivan, Jennifer, additional, Sutton, Shirley, additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L., additional, Tarakad, Arjun, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia, additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Yamamoto, Shinya, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional

Published
2023
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12. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Author

Calame, Daniel G, primary, Moreno Vadillo, Cristina, additional, Berger, Seth, additional, Lotze, Timothy, additional, Shinawi, Marwan, additional, Poupak, Javaher, additional, Heller, Corina, additional, Cohen, Julie, additional, Person, Richard, additional, Telegrafi, Aida, additional, Phitsanuwong, Chalongchai, additional, Fiala, Kaylene, additional, Thiffault, Isabelle, additional, Del Viso, Florencia, additional, Zhou, Dihong, additional, Fleming, Emily A, additional, Pastinen, Tomi, additional, Fatemi, Ali, additional, Thomas, Sruthi, additional, Pascual, Samuel I, additional, Torres, Rosa J, additional, Prior, Carmen, additional, Gómez-González, Clara, additional, Biskup, Saskia, additional, Lupski, James R, additional, Maric, Dragan, additional, Holmgren, Miguel, additional, Regier, Debra, additional, and Yano, Sho T, additional

Published
2023
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13. Rare variants inPPFIA3cause delayed development, intellectual disability, autism, and epilepsy

Author

Paul, Maimuna S., primary, Michener, Sydney L., additional, Pan, Hongling, additional, Pfliger, Jessica M., additional, Rosenfeld, Jill A., additional, Lerma, Vanesa C., additional, Tran, Alyssa, additional, Longley, Megan A., additional, Lewis, Richard A., additional, Weisz-Hubshman, Monika, additional, Bekheirnia, Mir Reza, additional, Bekheirnia, Nasim, additional, Massingham, Lauren, additional, Zech, Michael, additional, Wagner, Matias, additional, Engels, Hartmut, additional, Cremer, Kirsten, additional, Mangold, Elisabeth, additional, Peters, Sophia, additional, Trautmann, Jessica, additional, Mester, Jessica L., additional, Guillen Sacoto, Maria J., additional, Person, Richard, additional, McDonnell, Pamela P., additional, Cohen, Stacey R., additional, Lusk, Laina, additional, Cohen, Ana S.A., additional, Pichon, Jean-Baptiste Le, additional, Pastinen, Tomi, additional, Zhou, Dihong, additional, Engleman, Kendra, additional, Racine, Caroline, additional, Faivre, Laurence, additional, Moutton, Sébastien, additional, Pichon, Anne-Sophie Denommé-, additional, Schuhmann, Sarah, additional, Vasileiou, Georgia, additional, Russ-Hall, Sophie, additional, Scheffer, Ingrid E., additional, Carvill, Gemma L., additional, Mefford, Heather, additional, Network, Undiagnosed Diseases, additional, Bacino, Carlos A., additional, Lee, Brendan H., additional, and Chao, Hsiao-Tuan, additional

Published
2023
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14. P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center

Author

Thiffault, Isabelle, primary, Alaimo, Joseph, additional, Paolillo, Vitoria, additional, Del Viso, Florencia, additional, Cohen, Ana, additional, Farrow, Emily, additional, Starling, Susan, additional, Humphrey, Maggie, additional, Schwager, Caitlin, additional, Bartik, Lauren, additional, Engleman, Kendra, additional, Cross, Laura, additional, Welsh, Holly, additional, Rush, Eric, additional, Amudhavalli, Shivarajan, additional, Sullivan, Bonnie, additional, Zhou, Dihong, additional, Shaffer, Elizabeth, additional, Baig, Waseem, additional, Zellmer, Lee, additional, Rindler, Mary, additional, Zion, Tricia, additional, Boillat, Emelia, additional, Pastinen, Tomi, additional, Saunders, Carol, additional, and Thiffault, Isabelle, additional

Published
2023
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17. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Author

Cohen, Ana S.A., primary, Farrow, Emily G., additional, Abdelmoity, Ahmed T., additional, Alaimo, Joseph T., additional, Amudhavalli, Shivarajan M., additional, Anderson, John T., additional, Bansal, Lalit, additional, Bartik, Lauren, additional, Baybayan, Primo, additional, Belden, Bradley, additional, Berrios, Courtney D., additional, Biswell, Rebecca L., additional, Buczkowicz, Pawel, additional, Buske, Orion, additional, Chakraborty, Shreyasee, additional, Cheung, Warren A., additional, Coffman, Keith A., additional, Cooper, Ashley M., additional, Cross, Laura A., additional, Curran, Tom, additional, Dang, Thuy Tien T., additional, Elfrink, Mary M., additional, Engleman, Kendra L., additional, Fecske, Erin D., additional, Fieser, Cynthia, additional, Fitzgerald, Keely, additional, Fleming, Emily A., additional, Gadea, Randi N., additional, Gannon, Jennifer L., additional, Gelineau-Morel, Rose N., additional, Gibson, Margaret, additional, Goldstein, Jeffrey, additional, Grundberg, Elin, additional, Halpin, Kelsee, additional, Harvey, Brian S., additional, Heese, Bryce A., additional, Hein, Wendy, additional, Herd, Suzanne M., additional, Hughes, Susan S., additional, Ilyas, Mohammed, additional, Jacobson, Jill, additional, Jenkins, Janda L., additional, Jiang, Shao, additional, Johnston, Jeffrey J., additional, Keeler, Kathryn, additional, Korlach, Jonas, additional, Kussmann, Jennifer, additional, Lambert, Christine, additional, Lawson, Caitlin, additional, Le Pichon, Jean-Baptiste, additional, Leeder, James Steven, additional, Little, Vicki C., additional, Louiselle, Daniel A., additional, Lypka, Michael, additional, McDonald, Brittany D., additional, Miller, Neil, additional, Modrcin, Ann, additional, Nair, Annapoorna, additional, Neal, Shelby H., additional, Oermann, Christopher M., additional, Pacicca, Donna M., additional, Pawar, Kailash, additional, Posey, Nyshele L., additional, Price, Nigel, additional, Puckett, Laura M.B., additional, Quezada, Julio F., additional, Raje, Nikita, additional, Rowell, William J., additional, Rush, Eric T., additional, Sampath, Venkatesh, additional, Saunders, Carol J., additional, Schwager, Caitlin, additional, Schwend, Richard M., additional, Shaffer, Elizabeth, additional, Smail, Craig, additional, Soden, Sarah, additional, Strenk, Meghan E., additional, Sullivan, Bonnie R., additional, Sweeney, Brooke R., additional, Tam-Williams, Jade B., additional, Walter, Adam M., additional, Welsh, Holly, additional, Wenger, Aaron M., additional, Willig, Laurel K., additional, Yan, Yun, additional, Younger, Scott T., additional, Zhou, Dihong, additional, Zion, Tricia N., additional, Thiffault, Isabelle, additional, and Pastinen, Tomi, additional

Published
2022
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19. Phenotypic expansion and variable expressivity in individuals with JARID2 ‐related intellectual disability: A case series

Author

Cadieux‐Dion, Maxime, primary, Farrow, Emily, additional, Thiffault, Isabelle, additional, Cohen, Ana S. A., additional, Welsh, Holly, additional, Bartik, Lauren, additional, Schwager, Caitlin, additional, Engleman, Kendra, additional, Zhou, Dihong, additional, Zhang, Lei, additional, Repnikova, Elena, additional, Amudhavalli, Shivarajan M., additional, and Saunders, Carol J., additional

Published
2022
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20. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)

Author

Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, el Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Lodder, Elisabeth M., Clur, Sally-Ann B., Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R., Cardiology, ACS - Heart failure & arrhythmias, Medical Biology, Amsterdam Cardiovascular Sciences, Paediatric Cardiology, APH - Methodology, APH - Quality of Care, APH - Aging & Later Life, APH - Personalized Medicine, Human Genetics, Amsterdam Reproduction & Development (AR&D), and ACS - Pulmonary hypertension & thrombosis

Abstract

Due to a processing error the author’s Doris Škorić-Milosavljević, Najim Lahrouchi, Alex V. Postma, Connie R. Bezzina were assigned to affiliation 38. However, affiliation 38 does not exist. In addition, the affiliations of Najim Lahrouchi, Elisabeth M. Lodder, and Connie R. Bezzina should be number 1 instead of number 2. The correct affiliation is Department of Clinical and Experimental Cardiology, Amsterdam University Medical Center, Amsterdam, The Netherlands. The original article has been corrected.

Published
2021

21. Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.

Author

Del Viso, Florencia, Zhou, Dihong, Thiffault, Isabelle, Lawson, Caitlin, Cross, Laura, Jenkins, Janda, Rush, Eric, and Saunders, Carol

Abstract

De novo variants in FOXP4 were recently associated with a neurodevelopmental disorder characterized by speech and language delay, growth abnormalities, hypotonia, and variable congenital abnormalities, including congenital diaphragmatic hernia, cervical spine abnormalities, strabismus, cryptorchidism, and ptosis. The variant spectrum in this small cohort was limited to de novo missense except for one frameshift, the inheritance of which was unknown. Variants tested in vitro exhibited reduced repressor transcriptional activity, indicating loss of function is the likely mechanism of disease, but only one frameshift variant was reported. Here, we report four affected individuals from two unrelated families heterozygous for a nonsense variant, c.1893C > G, p.Tyr631*, in FOXP4. The phenotype of the affected children includes developmental delay, feeding difficulties in infancy, and similar facial features. In both cases, the variant was inherited from a parent with mild or even subclinical features. Interestingly, one patient presented with congenital diaphragmatic hernia, as reported in two other FOXP4 patients. This report implicates FOXP4 truncating variants in human disease and highlights the wide phenotypic spectrum and variable expressivity. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Author

Fasham, James, primary, Lin, Siying, additional, Ghosh, Promita, additional, Radio, Francesca Clementina, additional, Farrow, Emily G., additional, Thiffault, Isabelle, additional, Kussman, Jennifer, additional, Zhou, Dihong, additional, Hemming, Rick, additional, Zahka, Kenneth, additional, Chioza, Barry A., additional, Rawlins, Lettie E., additional, Wenger, Olivia K., additional, Gunning, Adam C., additional, Pizzi, Simone, additional, Onesimo, Roberta, additional, Zampino, Giuseppe, additional, Barker, Emily, additional, Osawa, Natasha, additional, Rodriguez, Megan Christine, additional, Neuhann, Teresa M., additional, Zackai, Elaine H., additional, Keena, Beth, additional, Capasso, Jenina, additional, Levin, Alex V., additional, Bhoj, Elizabeth, additional, Li, Dong, additional, Hakonarson, Hakon, additional, Wentzensen, Ingrid M., additional, Jackson, Adam, additional, Chandler, Kate E., additional, Coban-Akdemir, Zeynep H., additional, Posey, Jennifer E., additional, Banka, Siddharth, additional, Lupski, James R., additional, Sheppard, Sarah E., additional, Tartaglia, Marco, additional, Triggs-Raine, Barbara, additional, Crosby, Andrew H., additional, and Baple, Emma L., additional

Published
2021
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24. IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Author

Cohen, Ana SA, primary, Farrow, Emily G, additional, Abdelmoity, Ahmed T, additional, Alaimo, Joseph T, additional, Amudhavalli, Shivarajan M, additional, Anderson, John T, additional, Bansal, Lalit, additional, Bartik, Lauren, additional, Baybayan, Primo, additional, Belden, Bradley, additional, Berrios, Courtney D, additional, Biswell, Rebecca L, additional, Buczkowicz, Pawel, additional, Buske, Orion, additional, Chakraborty, Shreyasee, additional, Cheung, Warren A, additional, Coffman, Keith A, additional, Cooper, Ashley M, additional, Cross, Laura A, additional, Curran, Thomas, additional, Dang, Thuy Tien T, additional, Elfrink, Mary M, additional, Engleman, Kendra L, additional, Fecske, Erin D, additional, Fieser, Cynthia, additional, Fitzgerald, Keely, additional, Fleming, Emily A, additional, Gadea, Randi N, additional, Gannon, Jennifer L, additional, Gelineau-Morel, Rose N, additional, Gibson, Margaret, additional, Goldstein, Jeffrey, additional, Grundberg, Elin, additional, Halpin, Kelsee, additional, Harvey, Brian S, additional, Heese, Bryce A, additional, Hein, Wendy, additional, Herd, Suzanne M, additional, Hughes, Susan S, additional, Ilyas, Mohammed, additional, Jacobson, Jill, additional, Jenkins, Janda L, additional, Jiang, Shao, additional, Johnston, Jeffrey J, additional, Keeler, Kathryn, additional, Korlach, Jonas, additional, Kussmann, Jennifer, additional, Lambert, Christine, additional, Lawson, Caitlin, additional, Le Pichon, Jean-Baptiste, additional, Leeder, Steve, additional, Little, Vicki C, additional, Louiselle, Daniel A, additional, Lypka, Michael, additional, McDonald, Brittany D, additional, Miller, Neil, additional, Modrcin, Ann, additional, Nair, Annapoorna, additional, Neal, Shelby H, additional, Oermann, Christopher M, additional, Pacicca, Donna M, additional, Pawar, Kailash, additional, Posey, Nyshele L, additional, Price, Nigel, additional, Puckett, Laura MB, additional, Quezada, Julio F, additional, Raje, Nikita, additional, Rowell, William J, additional, Rush, Eric T, additional, Sampath, Venkatesh, additional, Saunders, Carol J, additional, Schwager, Caitlin, additional, Schwend, Richard M, additional, Shaffer, Elizabeth, additional, Smail, Craig, additional, Soden, Sarah, additional, Strenk, Meghan E, additional, Sullivan, Bonnie R, additional, Sweeney, Brooke R, additional, Tam-Williams, Jade B, additional, Walter, Adam M, additional, Welsh, Holly, additional, Wenger, Aaron M, additional, Willig, Laurel K, additional, Yan, Yun, additional, Younger, Scott T, additional, Zhou, Dihong, additional, Zion, Tricia N, additional, Thiffault, Isabelle, additional, and Pastinen, Tomi, additional

Published
2021
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25. Heterozygous variants inZBTB7Acause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

Author

von der Lippe, Charlotte, primary, Tveten, Kristian, additional, Prescott, Trine E., additional, Holla, Øystein L., additional, Busk, Øyvind L., additional, Burke, Katherine B., additional, Sansbury, Francis H., additional, Baptista, Júlia, additional, Fry, Andrew E., additional, Lim, Derek, additional, Jolles, Stephen, additional, Evans, Jennifer, additional, Osio, Deborah, additional, Macmillan, Carol, additional, Bruno, Irene, additional, Faletra, Flavio, additional, Climent, Salvador, additional, Urreitzi, Roser, additional, Hoenicka, Janet, additional, Palau, Francesc, additional, Cohen, Ana S. A., additional, Engleman, Kendra, additional, Zhou, Dihong, additional, Amudhavalli, Shivarajan M., additional, Jeanne, Médéric, additional, Bonnet‐Brilhault, Frédérique, additional, Lévy, Jonathan, additional, Drunat, Séverine, additional, Derive, Nicolas, additional, Haug, Marte G., additional, and Thorstensen, Wenche M., additional

Published
2021
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26. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Author

Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Tartaglia, Marco, Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, and Tartaglia, Marco

Abstract

Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome. The clinical profile of this disease includes developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females. SPEN also emerges as a relevant gene for del1p36 syndrome by co-expression analyses. Finally, we show that haploinsufficiency of SPEN is associated with a distinctive DNA methylation episignature of the X chromosome in affected females, providing further evidence of a specific contribution of the protein to the epigenetic control of this chromosome, and a paradigm of an X chromosome-specific episignature that classifies syndromic traits. We conclude that SPEN is required for multiple developmental processes and SPEN haploinsufficiency is a major contributor to a disorder associated with deletions centromeric to the previously established 1p36 critical regions.

Published
2021

27. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Genetica, Genetica Klinische Genetica, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R.F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C.O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E.H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L.I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M.C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., Kleefstra, Tjitske, Genetica, Genetica Klinische Genetica, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R.F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C.O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E.H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L.I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M.C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., and Kleefstra, Tjitske

Published
2021

29. Phenotypic characterization of JARID2-related intellectual disability: A case series

Author

Cadieux-Dion, Maxime, primary, Farrow, Emily, additional, Welsh, Holly, additional, Bartik, Lauren, additional, Schwager, Caitlin, additional, Gadea, Randi, additional, Engleman, Kendra, additional, Cohen, Ana, additional, Repnikova, Elena, additional, Zhang, Lei, additional, Herriges, John, additional, Gannon, Jennifer, additional, Zhou, Dihong, additional, Amudhavalli, Shivarajan, additional, Thiffault, Isabelle, additional, and Saunders, Carol, additional

Published
2021
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30. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Author

Radio, Francesca Clementina, primary, Pang, Kaifang, additional, Ciolfi, Andrea, additional, Levy, Michael A., additional, Hernández-García, Andrés, additional, Pedace, Lucia, additional, Pantaleoni, Francesca, additional, Liu, Zhandong, additional, de Boer, Elke, additional, Jackson, Adam, additional, Bruselles, Alessandro, additional, McConkey, Haley, additional, Stellacci, Emilia, additional, Lo Cicero, Stefania, additional, Motta, Marialetizia, additional, Carrozzo, Rosalba, additional, Dentici, Maria Lisa, additional, McWalter, Kirsty, additional, Desai, Megha, additional, Monaghan, Kristin G., additional, Telegrafi, Aida, additional, Philippe, Christophe, additional, Vitobello, Antonio, additional, Au, Margaret, additional, Grand, Katheryn, additional, Sanchez-Lara, Pedro A., additional, Baez, Joanne, additional, Lindstrom, Kristin, additional, Kulch, Peggy, additional, Sebastian, Jessica, additional, Madan-Khetarpal, Suneeta, additional, Roadhouse, Chelsea, additional, MacKenzie, Jennifer J., additional, Monteleone, Berrin, additional, Saunders, Carol J., additional, Jean Cuevas, July K., additional, Cross, Laura, additional, Zhou, Dihong, additional, Hartley, Taila, additional, Sawyer, Sarah L., additional, Monteiro, Fabíola Paoli, additional, Secches, Tania Vertemati, additional, Kok, Fernando, additional, Schultz-Rogers, Laura E., additional, Macke, Erica L., additional, Morava, Eva, additional, Klee, Eric W., additional, Kemppainen, Jennifer, additional, Iascone, Maria, additional, Selicorni, Angelo, additional, Tenconi, Romano, additional, Amor, David J., additional, Pais, Lynn, additional, Gallacher, Lyndon, additional, Turnpenny, Peter D., additional, Stals, Karen, additional, Ellard, Sian, additional, Cabet, Sara, additional, Lesca, Gaetan, additional, Pascal, Joset, additional, Steindl, Katharina, additional, Ravid, Sarit, additional, Weiss, Karin, additional, Castle, Alison M.R., additional, Carter, Melissa T., additional, Kalsner, Louisa, additional, de Vries, Bert B.A., additional, van Bon, Bregje W., additional, Wevers, Marijke R., additional, Pfundt, Rolph, additional, Stegmann, Alexander P.A., additional, Kerr, Bronwyn, additional, Kingston, Helen M., additional, Chandler, Kate E., additional, Sheehan, Willow, additional, Elias, Abdallah F., additional, Shinde, Deepali N., additional, Towne, Meghan C., additional, Robin, Nathaniel H., additional, Goodloe, Dana, additional, Vanderver, Adeline, additional, Sherbini, Omar, additional, Bluske, Krista, additional, Hagelstrom, R. Tanner, additional, Zanus, Caterina, additional, Faletra, Flavio, additional, Musante, Luciana, additional, Kurtz-Nelson, Evangeline C., additional, Earl, Rachel K., additional, Anderlid, Britt-Marie, additional, Morin, Gilles, additional, van Slegtenhorst, Marjon, additional, Diderich, Karin E.M., additional, Brooks, Alice S., additional, Gribnau, Joost, additional, Boers, Ruben G., additional, Finestra, Teresa Robert, additional, Carter, Lauren B., additional, Rauch, Anita, additional, Gasparini, Paolo, additional, Boycott, Kym M., additional, Barakat, Tahsin Stefan, additional, Graham, John M., additional, Faivre, Laurence, additional, Banka, Siddharth, additional, Wang, Tianyun, additional, Eichler, Evan E., additional, Priolo, Manuela, additional, Dallapiccola, Bruno, additional, Vissers, Lisenka E.L.M., additional, Sadikovic, Bekim, additional, Scott, Daryl A., additional, Holder, Jimmy Lloyd, additional, and Tartaglia, Marco, additional

Published
2021
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31. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Author

Barish, Scott, primary, Barakat, Tahsin Stefan, additional, Michel, Brittany C., additional, Mashtalir, Nazar, additional, Phillips, Jennifer B., additional, Valencia, Alfredo M., additional, Ugur, Berrak, additional, Wegner, Jeremy, additional, Scott, Tiana M., additional, Bostwick, Brett, additional, Murdock, David R., additional, Dai, Hongzheng, additional, Perenthaler, Elena, additional, Nikoncuk, Anita, additional, van Slegtenhorst, Marjon, additional, Brooks, Alice S., additional, Keren, Boris, additional, Nava, Caroline, additional, Mignot, Cyril, additional, Douglas, Jessica, additional, Rodan, Lance, additional, Nowak, Catherine, additional, Ellard, Sian, additional, Stals, Karen, additional, Lynch, Sally Ann, additional, Faoucher, Marie, additional, Lesca, Gaetan, additional, Edery, Patrick, additional, Engleman, Kendra L., additional, Zhou, Dihong, additional, Thiffault, Isabelle, additional, Herriges, John, additional, Gass, Jennifer, additional, Louie, Raymond J., additional, Stolerman, Elliot, additional, Washington, Camerun, additional, Vetrini, Francesco, additional, Otsubo, Aiko, additional, Pratt, Victoria M., additional, Conboy, Erin, additional, Treat, Kayla, additional, Shannon, Nora, additional, Camacho, Jose, additional, Wakeling, Emma, additional, Yuan, Bo, additional, Chen, Chun-An, additional, Rosenfeld, Jill A., additional, Westerfield, Monte, additional, Wangler, Michael, additional, Yamamoto, Shinya, additional, Kadoch, Cigall, additional, Scott, Daryl A., additional, and Bellen, Hugo J., additional

Published
2020
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33. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, primary, Stremmelaar, Diante E., additional, Raun, Nicholas, additional, Reijnders, Margot R. F., additional, Willemsen, Marjolein H., additional, Ruiterkamp-Versteeg, Martina, additional, Schepens, Marga, additional, Man, Calvin C. O., additional, Gilissen, Christian, additional, Cho, Megan T., additional, McWalter, Kirsty, additional, Sinnema, Margje, additional, Wheless, James W., additional, Simon, Marleen E. H., additional, Genetti, Casie A., additional, Casey, Alicia M., additional, Terhal, Paulien A., additional, van der Smagt, Jasper J., additional, van Gassen, Koen L. I., additional, Joset, Pascal, additional, Bahr, Angela, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Keller, Elmar, additional, Raas-Rothschild, Annick, additional, Koolen, David A., additional, Agrawal, Pankaj B., additional, Hoffman, Trevor L., additional, Powell-Hamilton, Nina N., additional, Thiffault, Isabelle, additional, Engleman, Kendra, additional, Zhou, Dihong, additional, Bodamer, Olaf, additional, Hoefele, Julia, additional, Riedhammer, Korbinian M., additional, Schwaibold, Eva M. C., additional, Tasic, Velibor, additional, Schubert, Dirk, additional, Top, Deniz, additional, Pfundt, Rolph, additional, Higgs, Martin R., additional, Kramer, Jamie M., additional, and Kleefstra, Tjitske, additional

Published
2020
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34. Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Author

Yan, Kezhi, primary, Rousseau, Justine, additional, Machol, Keren, additional, Cross, Laura A., additional, Agre, Katherine E., additional, Gibson, Cynthia Forster, additional, Goverde, Anne, additional, Engleman, Kendra L., additional, Verdin, Hannah, additional, De Baere, Elfride, additional, Potocki, Lorraine, additional, Zhou, Dihong, additional, Cadieux-Dion, Maxime, additional, Bellus, Gary A., additional, Wagner, Monisa D., additional, Hale, Rebecca J., additional, Esber, Natacha, additional, Riley, Alan F., additional, Solomon, Benjamin D., additional, Cho, Megan T., additional, McWalter, Kirsty, additional, Eyal, Roy, additional, Hainlen, Meagan K., additional, Mendelsohn, Bryce A., additional, Porter, Hillary M., additional, Lanpher, Brendan C., additional, Lewis, Andrea M., additional, Savatt, Juliann, additional, Thiffault, Isabelle, additional, Callewaert, Bert, additional, Campeau, Philippe M., additional, and Yang, Xiang-Jiao, additional

Published
2020
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35. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, primary, Stremmelaar, Diante E, additional, Raun, Nicholas, additional, Reijnders, Margot RF, additional, Willemsen, Marjolein H, additional, Ruiterkamp-Versteeg, Martina, additional, Schepens, Marga, additional, Man, Calvin CO, additional, Gilissen, Christian, additional, Cho, Megan T, additional, McWalter, Kirsty, additional, Sinnema, Margje, additional, Wheless, James W, additional, Simon, Marleen EH, additional, Genetti, Casie A, additional, Casey, Alicia M, additional, Terhal, Paulien A, additional, van der Smagt, Jasper J, additional, van Gassen, Koen L, additional, Joset, Pascal, additional, Bahr, Angela, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Keller, Elmar, additional, Raas-Rothschild, Annick, additional, Koolen, David A, additional, Agrawal, Pankaj B, additional, Hoffman, Trevor L, additional, Powell-Hamilton, Nina N, additional, Thiffault, Isabelle, additional, Engleman, Kendra, additional, Zhou, Dihong, additional, Bodamer, Olaf, additional, Hoefele, Julia, additional, Riedhammer, Korbinian M, additional, Schwaibold, Eva MC, additional, Tasic, Velibor, additional, Schubert, Dirk, additional, Top, Deniz, additional, Pfundt, Rolph, additional, Higgs, Martin R, additional, Kramer, Jamie M, additional, and Kleefstra, Tjitske, additional

Published
2019
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36. TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.

Author

Hanson, Jennifer, Brezavar, Daniel, Hughes, Susan, Amudhavalli, Shivarajan, Fleming, Emily, Zhou, Dihong, Alaimo, Joseph T., and Bonnen, Penelope E.

Subjects
CONNECTIVE tissues, HEART diseases, DEVELOPMENTAL delay, CARDIOVASCULAR diseases, CONGENITAL heart disease
Abstract

Congenital heart defects (CHD) are the most commonly occurring birth defect and can occur in isolation or with additional clinical features comprising a genetic syndrome. Autosomal dominant variants in TAB2 are recognized by the American Heart Association as causing nonsyndromic CHD, however, emerging data point to additional, extra‐cardiac features associated with TAB2 variants. We identified 15 newly reported individuals with pathogenic TAB2 variants and reviewed an additional 24 subjects with TAB2 variants in the literature. Analysis showed 64% (25/39) of individuals with disease resulting from TAB2 single nucleotide variants (SNV) had syndromic CHD or adult‐onset cardiomyopathy with one or more extra‐cardiac features. The most commonly co‐occurring features with CHD or cardiomyopathy were facial dysmorphism, skeletal and connective tissue defects and most subjects with TAB2 variants present as a connective tissue disorder. Notably, 53% (8/15) of our cohort displayed developmental delay and we suspect this may be a previously unappreciated feature of TAB2 disease. We describe the largest cohort of subjects with TAB2 SNV and show that in addition to heart disease, features across multiple systems are present in most TAB2 cases. In light of our findings, we recommend that TAB2 be included on the list of genes that cause syndromic CHD, adult‐onset cardiomyopathy, and connective tissue disorder. [ABSTRACT FROM AUTHOR]

Published
2022
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37. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Author

Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., and Baple, Emma L.

Abstract

We previously defined biallelic HYAL2variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2knockout mice displaying similar phenotypes. In this study, we better define the phenotype and pathologic disease mechanism.

Published
2022
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38. Characterization of SETD1Ahaploinsufficiency in humans and Drosophiladefines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E. H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., and Kleefstra, Tjitske

Abstract

Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of SETD1Ainvolved in histone H3 lysine 4 (H3K4) methylation were previously identified in individuals with schizophrenia. Here, we define the clinical features of the Mendelian syndrome associated with haploinsufficiency of SETD1Aby investigating 15 predominantly pediatric individuals who all have de novo SETD1Avariants. These individuals present with a core set of symptoms comprising global developmental delay and/or intellectual disability, subtle facial dysmorphisms, behavioral and psychiatric problems. We examined cellular phenotypes in three patient-derived lymphoblastoid cell lines with three variants: p.Gly535Alafs*12, c.4582-2_4582delAG, and p.Tyr1499Asp. These patient cell lines displayed DNA damage repair defects that were comparable to previously observed RNAi-mediated depletion of SETD1A. This suggested that these variants, including the p.Tyr1499Asp in the catalytic SET domain, behave as loss-of-function (LoF) alleles. Previous studies demonstrated a role for SETD1A in cell cycle control and differentiation. However, individuals with SETD1Avariants do not show major structural brain defects or severe microcephaly, suggesting that defective proliferation and differentiation of neural progenitors is unlikely the single underlying cause of the disorder. We show here that the Drosophila melanogasterSETD1A orthologue is required in postmitotic neurons of the fly brain for normal memory, suggesting a role in post development neuronal function. Together, this study defines a neurodevelopmental disorder caused by dominant de novo LoF variants in SETD1Aand further supports a role for H3K4 methyltransferases in the regulation of neuronal processes underlying normal cognitive functioning.

Published
2021
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39. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Author

Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Pedace, Lucia, Boer, Elke, Jackson, Adam, Stellacci, Emilia, Lo Cicero, Stefania, Dentici, Maria Lisa, Mcwalter, Kirsty, Sanchez-Lara, Pedro A., Lindstrom, Kristin, Madan-Khetarpal, Suneeta, Mackenzie, Jennifer J., Monteleone, Berrin, Zhou, Dihong, Sawyer, Sarah L., Monteiro, Fabiola Paoli, Macke, Erica L., Maria Iascone, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Stals, Karen, Cabet, Sara, Steindl, Katharina, Weiss, Karin, Castle, Alison M. R., Kalsner, Louisa, Chandler, Kate E., Sheehan, Willow, Shinde, Deepali N., Goodloe, Dana, Bluske, Krista, Faletra, Flavio, Kurtz-Nelson, Evangeline C., Anderlid, Britt-Marie, Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E. L. M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, and Tartaglia, Marco

42. SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.

Author

Del Viso F, Zhou D, Starling S, Fleming E, and Saunders C

Abstract

Haploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate. In addition, extracraniofacial anomalies may be present, such as skeletal, cardiac renal, and abnormalities of the central nervous system. Variants have been either de novo or inherited, and both inter- and intrafamilial variability has been observed. Here we describe a patient referred for exome sequencing for a complex congenital heart defect and Hirschsprung disease found by exome sequencing to be heterozygous for a loss of function variant, c.945dup (p.Val316SerfsTer5), in SF3B2. This variant was inherited from a parent with an isolated cardiac defect. Interestingly, neither have the defining craniofacial features or other dysmorphisms. This report further illustrates the degree of phenotypic variability seen in SF3B2-related disease and expands the spectrum to include Hirschsprung disease., (© 2024 Wiley Periodicals LLC.)

Published
2024
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43. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Author

De Pace R, Maroofian R, Paimboeuf A, Zamani M, Zaki MS, Sadeghian S, Azizimalamiri R, Galehdari H, Zeighami J, Williamson CD, Fleming E, Zhou D, Gannon JL, Thiffault I, Roze E, Suri M, Zifarelli G, Bauer P, Houlden H, Severino M, Patten SA, Farrow E, and Bonifacino JS

Subjects
Humans, Female, Male, Animals, Infant, Child, Preschool, Child, Zebrafish, Pedigree, ADP-Ribosylation Factors genetics, ADP-Ribosylation Factors metabolism, Alleles, Mutation, Missense genetics, Lysosomes metabolism, Lysosomes genetics, Neurodegenerative Diseases genetics
Abstract

BLOC-one-related complex (BORC) is a multiprotein complex composed of eight subunits named BORCS1-8. BORC associates with the cytosolic face of lysosomes, where it sequentially recruits the small GTPase ARL8 and kinesin-1 and -3 microtubule motors to promote anterograde transport of lysosomes toward the peripheral cytoplasm in non-neuronal cells and the distal axon in neurons. The physiological and pathological importance of BORC in humans, however, remains to be determined. Here, we report the identification of compound heterozygous variants [missense c.85T>C (p.Ser29Pro) and frameshift c.71-75dupTGGCC (p.Asn26Trpfs*51)] and homozygous variants [missense c.196A>C (p.Thr66Pro) and c.124T>C (p.Ser42Pro)] in BORCS8 in five children with a severe early-infantile neurodegenerative disorder from three unrelated families. The children exhibit global developmental delay, severe-to-profound intellectual disability, hypotonia, limb spasticity, muscle wasting, dysmorphic facies, optic atrophy, leuko-axonopathy with hypomyelination, and neurodegenerative features with prevalent supratentorial involvement. Cellular studies using a heterologous transfection system show that the BORCS8 missense variants p.Ser29Pro, p.Ser42Pro and p.Thr66Pro are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution toward the cell periphery. The BORCS8 frameshift variant p.Asn26Trpfs*51, on the other hand, is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution toward the cell periphery. Therefore, all the BORCS8 variants are partial or total loss-of-function alleles and are thus likely pathogenic. Knockout of the orthologous borcs8 in zebrafish causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. These findings thus identify BORCS8 as a novel genetic locus for an early-infantile neurodegenerative disorder and highlight the critical importance of BORC and lysosome dynamics for the development and function of the central nervous system., (Published by Oxford University Press on behalf of the Guarantors of Brain 2023.)

Published
2024
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44. Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy.

Author

Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T, Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, and McPherson PS

Abstract

Developmental and epileptic encephalopathies (DEEs) are a heterogenous group of epilepsies in which altered brain development leads to developmental delay and seizures, with the epileptic activity further negatively impacting neurodevelopment. Identifying the underlying cause of DEEs is essential for progress toward precision therapies. Here we describe a group of individuals with biallelic variants in DENND5A and determine that variant type is correlated with disease severity. We demonstrate that DENND5A interacts with MUPP1 and PALS1, components of the Crumbs apical polarity complex, which is required for both neural progenitor cell identity and the ability of these stem cells to divide symmetrically. Induced pluripotent stem cells lacking DENND5A fail to undergo symmetric cell division during neural induction and have an inherent propensity to differentiate into neurons, and transgenic DENND5A mice, with phenotypes like the human syndrome, have an increased number of neurons in the adult subventricular zone. Disruption of symmetric cell division following loss of DENND5A results from misalignment of the mitotic spindle in apical neural progenitors. A subset of DENND5A is localized to centrosomes, which define the spindle poles during mitosis. Cells lacking DENND5A orient away from the proliferative apical domain surrounding the ventricles, biasing daughter cells towards a more fate-committed state and ultimately shortening the period of neurogenesis. This study provides a mechanism behind DENND5A -related DEE that may be generalizable to other developmental conditions and provides variant-specific clinical information for physicians and families., Competing Interests: Competing Interests KM and RP are employed by GeneDx, LLC. All other authors report no conflicts of interest.

Published
2024
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45. Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.

Author

Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, and Chao HT

Abstract

PPFIA3 encodes the Protein-Tyrosine Phosphatase, Receptor-Type, F Polypeptide-Interacting Protein Alpha-3 (PPFIA3), which is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family involved in synaptic vesicle transport and presynaptic active zone assembly. The protein structure and function are well conserved in both invertebrates and vertebrates, but human diseases related to PPFIA3 dysfunction are not yet known. Here, we report 14 individuals with rare mono-allelic PPFIA3 variants presenting with features including developmental delay, intellectual disability, hypotonia, autism, and epilepsy. To determine the pathogenicity of PPFIA3 variants in vivo , we generated transgenic fruit flies expressing either human PPFIA3 wildtype (WT) or variant protein using GAL4-UAS targeted gene expression systems. Ubiquitous expression with Actin-GAL4 showed that the PPFIA3 variants had variable penetrance of pupal lethality, eclosion defects, and anatomical leg defects. Neuronal expression with elav-GAL4 showed that the PPFIA3 variants had seizure-like behaviors, motor defects, and bouton loss at the 3 rd instar larval neuromuscular junction (NMJ). Altogether, in the fly overexpression assays, we found that the PPFIA3 variants in the N-terminal coiled coil domain exhibited stronger phenotypes compared to those in the C-terminal region. In the loss-of-function fly assay, we show that the homozygous loss of fly Liprin- α leads to embryonic lethality. This lethality is partially rescued by the expression of human PPFIA3 WT, suggesting human PPFIA3 protein function is partially conserved in the fly. However, the PPFIA3 variants failed to rescue lethality. Altogether, the human and fruit fly data reveal that the rare PPFIA3 variants are dominant negative loss-of-function alleles that perturb multiple developmental processes and synapse formation.

Published
2023
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46. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

Author

von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG, and Thorstensen WM

Subjects
Cell Line, Tumor, DNA-Binding Proteins genetics, Fetal Hemoglobin, Humans, Lymphoid Tissue, Transcription Factors genetics, Intellectual Disability genetics, Megalencephaly genetics, Neurodevelopmental Disorders genetics
Abstract

By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoid tissue. All 12 individuals harbored a rare heterozygous variant in ZBTB7A which encodes the transcription factor Zinc finger and BTB-domain containing protein 7A, known to play a role in lympho- and hematopoiesis. ID was generally mild. Fetal hemoglobin (HbF) fraction was elevated 2.2%-11.2% (reference value <2% in individuals > 6 months) in four of the five individuals for whom results were available. Ten of twelve individuals had undergone surgery at least once for lymphoid hypertrophy limited to the pharynx. In the most severely affected individual (individual 1), airway obstruction resulted in 17 surgical procedures before the age of 13 years. Sleep apnea was present in 8 of 10 individuals. In the nine unrelated individuals, ZBTB7A variants were novel and de novo. The six frameshift/nonsense and four missense variants were spread throughout the gene. This is the first report of a cohort of individuals with this novel syndromic neurodevelopmental disorder., (© 2021 Wiley Periodicals LLC.)

Published
2022
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47. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Author

Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T, Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, and Bezzina CR

Published
2021
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