Detection of clinically relevant exonic copy-number changes by array CGH von Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., del Gaudio, Daniela, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping von El-Hattab, Ayman W, Smolarek, Teresa A, Walker, Martha E, Schorry, Elizabeth K, Immken, LaDonna L, Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C, Ou, Zhishuo, Kang, Sung-Hae L, Patel, Ankita, Scaglia, Fernando, Lupski, James R, Cheung, Sau Wai, Stankiewicz, Pawel

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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features von Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Afawi, Zaid, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Craiu, Dana, De Jonghe, Peter, Guerrero-Lopez, Rosa, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, José, Sterbová, Katalin, Suls, Arvid, Moller, Rikke S., Striano, Pasquale, Weber, Yvonne, Zara, Federico, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.

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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes von Beaudet, Arthur L, Shinawi, Marwan, Schaaf, Christian P, Bhatt, Samarth S, Xia, Zhilian, Patel, Ankita, Cheung, Sau Wai, Lanpher, Brendan, Nagl, Sandra, Herding, Heinrich Stephan, Nevinny-Stickel, Claudia, Immken, LaDonna L, Patel, Gayle Simpson, German, Jennifer Ruth, Stankiewicz, Pawel

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior von Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E.H., Volker-Touw, Catharina M.L., Gassen, Koen L.I. van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B.A. de, Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P., Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B., Cohen, Lilian L., Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B., Beggs, Alan H., Yu, Timothy W.

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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder von Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand

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Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum von Emrick, Lisa T., Rosenfeld, Jill A., Lalani, Seema R., Jain, Mahim, Desai, Nilesh K., Larson, Austin, Kripps, Kimberly, Vanderver, Adeline, Taft, Ryan J., Bluske, Krista, Perry, Denise, Nagakura, Honey, Immken, LaDonna L., Burrage, Lindsay C., Bacino, Carlos A., Belmont, John W., Lee, Brendan

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.

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Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia von Qidwai, Kanwal, Pearson, David M., Patel, Gayle Simpson, Pober, Barbara R., Immken, LaDonna L., Cheung, Sau Wai, Scott, Daryl A.

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A small recurrent deletion within 15g13.3 is associated with a range of neurodevelopmental phenotypes von Shinawi, Marwan, Schaaf, Christian P, Bhatt, Samarth S, Xia, Zhilian, Patel, Ankita, Cheung, Sau Wai, Lanpher, Brendan, Nagl, Sandra, Herding, Heinrich Stephan, Nevinny-Stickel, Claudia, Immken, LaDonna L, Patel, Gayle Simpson, German, Jennifer Ruth, Beaudet, Arthur L, Stankiewicz, Pawel

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O'Grady, Lauren, Schrier Vergano, Samantha A, Hoffman, Trevor L, Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz-Rogers, Laura, Chung, Wendy K, Sacharow, Stephanie, Immken, Ladonna L, Holder, Susan, Blackwell, Rebecca R, Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne-Marie, Rodan, Lance, de Vries, Bert B A, Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares-Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W, Babovic-Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller-Ramey, Jennifer, Santiago-Sim, Teresa, Schnur, Rhonda E, Sweetser, David A, Gold, Nina B

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The Nager syndrome von Hecht, Jacqueline T., Immken, LaDonna L., Harris, Lileah F., Malini, Srini, Scott Jr, Charles I., Opitz, John M., Reynolds, James F.

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies von Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei

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Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency von Berryer, Martin H., Hamdan, Fadi F., Klitten, Laura L., Møller, Rikke S., Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde, Lacaille, Jean-Claude, Niu, Zhiyv, Eng, Christine M., Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A., Tommerup, Niels, Immken, LaDonna, Beauchamp, Miriam H., Patel, Gayle Simpson, Majewski, Jacek, Tarnopolsky, Mark A., Scheffzek, Klaus, Hjalgrim, Helle, Michaud, Jacques L., Di Cristo, Graziella

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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 von Peddibhotla, Sirisha, Nagamani, Sandesh C S, Erez, Ayelet, Hunter, Jill V, Holder, Jr, J Lloyd, Carlin, Mary E, Bader, Patricia I, Perras, Helene M F, Allanson, Judith E, Newman, Leslie, Simpson, Gayle, Immken, LaDonna, Powell, Erin, Mohanty, Aaron, Kang, Sung-Hae L, Stankiewicz, Pawel, Bacino, Carlos A, Bi, Weimin, Patel, Ankita, Cheung, Sau W

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder von Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reijnders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

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Muenke syndrome (FGFR3-related craniosynostosis): Expansion of the phenotype and review of the literature von Doherty, Emily S., Lacbawan, Felicitas, Hadley, Donald W., Brewer, Carmen, Zalewski, Christopher, Kim, H. Jeff, Solomon, Beth, Rosenbaum, Kenneth, Domingo, Demetrio L., Hart, Thomas C., Brooks, Brian P., Immken, LaDonna, Lowry, R. Brian, Kimonis, Virginia, Shanske, Alan L., Jehee, Fernanda Sarquis, Bueno, Maria Rita Passos, Knightly, Carol, McDonald-McGinn, Donna, Zackai, Elaine H., Muenke, Maximilian

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De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder von Lessel, Davor, Schob, Claudia, Küry, Sébastien, Reijnders, Margot R.F., Harel, Tamar, Eldomery, Mohammad K., Coban-Akdemir, Zeynep, Denecke, Jonas, Edvardson, Shimon, Colin, Estelle, Stegmann, Alexander P.A., Gerkes, Erica H., Tessarech, Marine, Bonneau, Dominique, Barth, Magalie, Besnard, Thomas, Cogné, Benjamin, Revah-Politi, Anya, Strom, Tim M., Rosenfeld, Jill A., Yang, Yaping, Posey, Jennifer E., Immken, LaDonna, Oundjian, Nelly, Helbig, Katherine L., Meeks, Naomi, Zegar, Kelsey, Morton, Jenny, the DDD study, Schieving, Jolanda H., Claasen, Ana, Huentelman, Matthew, Narayanan, Vinodh, Ramsey, Keri, Brunner, Han G., Elpeleg, Orly, Mercier, Sandra, Bézieau, Stéphane, Kubisch, Christian, Kleefstra, Tjitske, Kindler, Stefan, Lupski, James R., Kreienkamp, Hans-Jürgen

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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders von Celestino-Soper, Patrícia Bs, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata Mj, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, Ladonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel

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TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities von Wiszniewski, Wojciech, Hunter, Jill V., Hanchard, Neil A., Willer, Jason R., Shaw, Chad, Tian, Qi, Illner, Anna, Wang, Xueqing, Cheung, Sau W., Patel, Ankita, Campbell, Ian M., Gelowani, Violet, Hixson, Patricia, Ester, Audrey R., Azamian, Mahshid S., Potocki, Lorraine, Zapata, Gladys, Hernandez, Patricia P., Ramocki, Melissa B., Santos-Cortez, Regie L.P., Wang, Gao, York, Michele K., Justice, Monica J., Chu, Zili D., Bader, Patricia I., Omo-Griffith, Lisa, Madduri, Nirupama S., Scharer, Gunter, Crawford, Heather P., Yanatatsaneejit, Pattamawadee, Eifert, Anna, Kerr, Jeffery, Bacino, Carlos A., Franklin, Adiaha I.A., Goin-Kochel, Robin P., Simpson, Gayle, Immken, Ladonna, Haque, Muhammad E., Stosic, Marija, Williams, Misti D., Morgan, Thomas M., Pruthi, Sumit, Omary, Reed, Boyadjiev, Simeon A., Win, Kay K., Thida, Aye, Hurles, Matthew, Hibberd, Martin Lloyd, Khor, Chiea Chuen, Van Vinh Chau, Nguyen, Gallagher, Thomas E., Mutirangura, Apiwat, Stankiewicz, Pawel, Beaudet, Arthur L., Maletic-Savatic, Mirjana, Rosenfeld, Jill A., Shaffer, Lisa G., Davis, Erica E., Belmont, John W., Dunstan, Sarah, Simmons, Cameron P., Bonnen, Penelope E., Leal, Suzanne M., Katsanis, Nicholas, Lupski, James R., Lalani, Seema R.

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