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Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis Xu, Xiaopeng; Chen, Qi; Huang, Qingpei; Cox, Timothy C.; Zhu, Hao; Hu, Jintian; Han, Xi; Meng, Ziqiu; Wang, Bingqing; Liao, Zhiying; Xu, Wenxin; Xiao, Baichuan; Lang, Ruirui; Liu, Jiqiang; Huang, Jian; Tang, Xiaokai; Wang, Jinmo; Li, Qiang; Liu, Ting; Zhang, Qingguo; Antonarakis, Stylianos E.; Zhang, Jiao; Liu, Huisheng; Zhang, Yong-Biao Share Save
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia Zhu, Hao; Zhang, Jiao; Rao, Soumya; Durbin, Matthew D.; Li, Ying; Lang, Ruirui; Liu, Jiqiang; Xiao, Baichuan; Shan, Hailin; Meng, Ziqiu; Wang, Jinmo; Tang, Xiaokai; Shi, Zhenni; Cox, Liza L.; Zhao, Shouqin; Ware, Stephanie M.; Tan, Tiong Y.; de Silva, Michelle; Gallacher, Lyndon; Liu, Ting; Mi, Jie; Zeng, Changqing; Zheng, Hou-Feng; Zhang, Qingguo; Antonarakis, Stylianos E.; Cox, Timothy C.; Zhang, Yong-Biao Share Save
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1 Sallo, Ferenc B.; Dysli, Chantal; Holzer, Franz Josef; Ranza, Emmanuelle; Guipponi, Michel; Antonarakis, Stylianos E.; Munier, Francis L.; Bird, Alan C.; Schorderet, Daniel F.; Rossillion, Beatrice; Vaclavik, Veronika Share Save
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability Sabeh, Pascale; Dumas, Samantha A.; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J.; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Mouhoub, Tarik Ait; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A.; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M.; Lesieur-Sebellin, Marion; Baujat, Genevieve; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R.; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, Andre; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A.; Briere, Lauren C.; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E.; Banne, Ethud; Parker, J. Alex; Burnett, Barrington G.; Campeau, Philippe M. Share Save
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation Eskin-Schwartz, Marina; Seraidy, Shaikah; Paz, Eyal; Molhem, Maism; Ranza, Emmanuelle; Antonarakis, Stylianos E.; Blanc, Xavier; Herman, Kristin; Benko, William S.; Libzon, Stephanie; Ben Sira, Liat; Fattal-Valevski, Aviva; Dolgin, Vadim; Birk, Ohad S.; Kessel, Amit; Bross, Peter; Weiss, Celeste; Azem, Abdussalam; Zerem, Ayelet Share Save
The genetic cause of neurodevelopmental disorders in 30 consanguineous families Paracha, Sohail Aziz; Nawaz, Shoaib; Sarwar, Muhammad Tahir; Shaheen, Asmat; Zaman, Gohar; Ahmed, Jawad; Shah, Fahim; Khwaja, Sundus; Jan, Abid; Khan, Nida; Kamal, Mohammad Azhar; Alam, Qamre; Abbas, Safdar; Farman, Saman; Waqas, Ahmed; Alkathiri, Afnan; Hamadi, Abdullah; Santoni, Federico; Ullah, Naseeb; Khalid, Bisma; Antonarakis, Stylianos E.; Fakhro, Khalid A.; Umair, Muhammad; Ansar, Muhammad Share Save
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder Mattioli, Francesca; Worpenberg, Lina; Li, Cai-Tao; Ibrahim, Nazia; Naz, Shagufta; Sharif, Saima; Firouzabadi, Saghar G.; Vosoogh, Shohreh; Saraeva-Lamri, Radoslava; Raymond, Laure; Trujillo, Carlos; Guex, Nicolas; Antonarakis, Stylianos E.; Ansar, Muhammad; Darvish, Hossein; Liu, Ru-Juan; Roignant, Jean-Yves; Reymond, Alexandre Share Save
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Kuster-Hauser syndrome Jolly, Angad; Du, Haowei; Borel, Christelle; Chen, Na; Zhao, Sen; Grochowski, Christopher M.; Duan, Ruizhi; Fatih, Jawid M.; Dawood, Moez; Salvi, Sejal; Jhangiani, Shalini N.; Muzny, Donna M.; Koch, Andre; Rouskas, Konstantinos; Glentis, Stavros; Deligeoroglou, Efthymios; Bacopoulou, Flora; Wise, Carol A.; Dietrich, Jennifer E.; Van den Veyver, Ignatia B.; Dimas, Antigone S.; Brucker, Sara; Sutton, V. Reid; Gibbs, Richard A.; Antonarakis, Stylianos E.; Wu, Na; Coban-Akdemir, Zeynep H.; Zhu, Lan; Posey, Jennifer E.; Lupski, James R. Share Save
FOXI3 pathogenic variants cause one form of craniofacial microsomia Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A.; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C.; Groves, Andrew K.; Lupski, James R.; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E. Share Save
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly Serey-Gaut, Margaux; Cortes, Marisol; Makrythanasis, Periklis; Suri, Mohnish; Taylor, Alexander M. R.; Sullivan, Jennifer A.; Asleh, Ayat N.; Mitra, Jaba; Dar, Mohamad A.; McNamara, Amy; Shashi, Vandana; Dugan, Sarah; Song, Xiaofei; Rosenfeld, Jill A.; Cabrol, Christelle; Iwaszkiewicz, Justyna; Zoete, Vincent; Pehlivan, Davut; Akdemir, Zeynep Coban; Roeder, Elizabeth R.; Littlejohn, Rebecca Okashah; Dibra, Harpreet K.; Byrd, Philip J.; Stewart, Grant S.; Geckinli, Bilgen B.; Posey, Jennifer; Westman, Rachel; Jungbluth, Chelsy; Eason, Jacqueline; Sachdev, Rani; Evans, Carey-Anne; Lemire, Gabrielle; VanNoy, Grace E.; O'Donnell-Luria, Anne; Mau-Them, Frederic Tran; Juven, Aurelien; Piard, Juliette; Nixon, Cheng Yee; Zhu, Ying; Ha, Taekjip; Buckley, Michael F.; Thauvin, Christel; Umanah, George K. Essien; Van Maldergem, Lionel; Lupski, James R.; Roscioli, Tony; Dawson, Valina L.; Dawson, Ted M.; Antonarakis, Stylianos E. Share Save
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M. Share Save
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Ku spacing diaeresis ster-Hauser syndrome Ma, Congcong; Chen, Na; Jolly, Angad; Zhao, Sen; Coban-Akdemir, Zeynep; Tian, Weijie; Kang, Jia; Ye, Yang; Wang, Yuan; Koch, Andre; Zhang, Yuanqiang; Qin, Chenglu; Bonilla, Ximena; Borel, Christelle; Rall, Katharina; Chen, Zefu; Jhangiani, Shalini; Niu, Yuchen; Li, Xiaoxin; Qiu, Guixing; Zhang, Shuyang; Luo, Guangnan; Wu, Zhihong; Bacopoulou, Flora; Deligeoroglou, Efthymios; Zhang, Terry Jianguo; Rosenberg, Carla; Gibbs, Richard A.; Dietrich, Jennifer E.; Dimas, Antigone S.; Liu, Pengfei; Antonarakis, Stylianos E.; Brucker, Sara Y.; Posey, Jennifer E.; Lupski, James R.; Wu, Nan; Zhu, Lan Share Save
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy Cediel, Maria Lucia; Stawarski, Michal; Blanc, Xavier; Noskova, Lenka; Magner, Martin; Platzer, Konrad; Gburek-Augustat, Janina; Baldridge, Dustin; Constantino, John N.; Ranza, Emmanuelle; Bettler, Bernhard; Antonarakis, Stylianos E. Share Save
Rare pathogenic variants in WNK3 cause X-linked intellectual disability Kury, Sebastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M.; Josiah, Sunday S.; Kiziltug, Emre; Denomme-Pichon, Anne-Sophie; Cogne, Benjamin; Kundishora, Adam J.; Hao, Le T.; Li, Hong; Stevenson, Roger E.; Louie, Raymond J.; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F. Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A.; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Ounap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M.; Barr, Eileen E.; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G.; Monaghan, Kristin G.; Rio, Marlene; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K.; Wilson, Ashley; Quinquis, Delphine; Breheret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M.; Berger, Sara M.; Milla, Sarah S.; Jaykumar, Ankita B.; Cobb, Melanie H.; Panchagnula, Shreyas; Duy, Phan Q.; Vincent, Marie; Mercier, Sandra; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Audebert-Bellanger, Severine; Odent, Sylvie; Schmitt, Sebastien; Boisseau, Pierre; Bonneau, Dominique; Toutain, Annick; Colin, Estelle; Pasquier, Laurent; Redon, Richard; Bouman, Arjan; Rosenfeld, Jill A.; Friez, Michael J.; Perez-Pena, Helena; Rizvi, Syed Raza Akhtar; Haider, Shozeb; Antonarakis, Stylianos E.; Schwartz, Charles E.; Martinez, Francisco; Bezieau, Stephane; Kahle, Kristopher T.; Isidor, Bertrand Share Save
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder Meuwissen, Marije; Verstraeten, Aline; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Bastiaansen, Maaike; Mateiu, Ligia; Nemegeer, Merlijn; Meester, Josephina A. N.; Afenjar, Alexandra; Amaral, Michelle; Ballhausen, Diana; Barnett, Sarah; Barth, Magalie; Asselbergh, Bob; Spaas, Katrien; Heeman, Bavo; Bassetti, Jennifer; Blackburn, Patrick; Schaer, Marie; Blanc, Xavier; Zoete, Vincent; Casas, Kari; Courtin, Thomas; Doummar, Diane; Guerry, Frederic; Keren, Boris; Pappas, John; Rabin, Rachel; Begtrup, Amber; Shinawi, Marwan; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Wagner, Matias; Ziegler, Alban; Schaefer, Elise; Gerard, Benedicte; De Bie, Charlotte, I; Holwerda, Sjoerd J. B.; Abbot, Mary Alice; Antonarakis, Stylianos E.; Loeys, Bart Share Save
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