Not logged in Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (vol 3, 2024, 59) Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klockner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; Mcdonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M. Share Save
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Sola, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hancarova, Miroslava; Bendova, Sarka; Prchalova, Darina; Sedlacek, Zdenek; Baxova, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Kloeckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenael L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M. Share Save
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections Jeffries, Lauren; Mis, Emily K.; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N.; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S.; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B.; Banka, Siddharth; Chao, Katherine R.; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M.; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E.; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E.; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P.; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M.; Stals, Karen; Towner, Shelley; Wilson, William; Khokha, Mustafa K.; Boennemann, Carsten G.; Lucas, Carrie L.; Lakhani, Saquib A. Share Save
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Mau-Them, Frederic Tran; Wentzensen, Ingrid M.; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Genevieve, David; Louie, Raymond J.; Lyons, Michael J.; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Juul, Trine Maxel; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cecile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R.; Mitani, Tadahiro; Posey, Jennifer E.; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A.; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R.; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jerome; Dermaut, Bart; Vitobello, Antonio 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
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial Roof, Elizabeth; Deal, Cheri L.; McCandless, Shawn E.; Cowan, Ronald L.; Miller, Jennifer L.; Hamilton, Jill K.; Roeder, Elizabeth R.; McCormack, Shana E.; Lal, Tamanna R. Roshan; Abdul-Latif, Hussein D.; Haqq, Andrea M.; Obrynba, Kathryn S.; Torchen, Laura C.; Vidmar, Alaina P.; Viskochil, David H.; Chanoine, Jean-Pierre; Lam, Carol K. L.; Pierce, Melinda J.; Williams, Laurel L.; Bird, Lynne M.; Butler, Merlin G.; Jensen, Diane E.; Myers, Susan E.; Oatman, Oliver J.; Baskaran, Charumathi; Chalmers, Laura J.; Fu, Cary; Alos, Nathalie; McLean, Scott D.; Shah, Ajay; Whitman, Barbara Y.; Blumenstein, Brent A.; Leonard, Sarah F.; Ernest, Jessica P.; Cormier, Joseph W.; Cotter, Sara P.; Ryman, Davis C. Share Save
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences Bi, Weimin; Yuan, Bo; Liu, Pengfei; Murry, Jaclyn B.; Qin, Xiang; Xia, Fan; Quach, Thao; Cooper, Lance M.; Wiszniewska, Joanna; Hixson, Patricia; Peacock, Sandra; Tonk, Vijay S.; Huff, Robert W.; Ortega, Veronica; Lupski, James R.; Scherer, Steven E.; Littlejohn, Rebecca Okashah; Velagaleti, Gopalrao V. N.; Roeder, Elizabeth R.; Cheung, Sau Wai Share Save
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors Alves, C. A. P. F.; Sherbini, O.; D'Arco, F.; Steel, D.; Kurian, M. A.; Radio, F. C.; Ferrero, G. B.; Carli, D.; Tartaglia, M.; Balci, T. B.; Powell-Hamilton, N. N.; Vergano, S. A. Schrier; Reutter, H.; Hoefele, J.; Gunthner, R.; Roeder, E. R.; Littlejohn, R. O.; Lessel, D.; Luttgen, S.; Kentros, C.; Anyane-Yeboa, K.; Catarino, C. B.; Mercimek-Andrews, S.; Denecke, J.; Lyons, M. J.; Klopstock, T.; Bhoj, E. J.; Bryant, L.; Vanderver, A. Share Save
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy Spinelli, Egidio; Christensen, Kyle R.; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M.; Giannelli, Jessica; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Schmidt, Berkley; Wilson, William G.; Marco, Elysa J.; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H.; Jaarsveld, Richard H.; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick W.; Andrews, P. Ian; El Achkar, Christelle M.; Berkovic, Sam; Rodan, Lance H.; McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E.; Mefford, Heather C.; Mandelstam, Simone; Laux, Linda; Millichap, John J.; Guemez-Gamboa, Alicia; Nairn, Angus C.; Carvill, Gemma L. Share Save
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders Mochel, Fanny; Rastetter, Agnes; Ceulemans, Berten; Platzer, Konrad; Yang, Sandra; Shinde, Deepali N.; Helbig, Katherine L.; Lopergolo, Diego; Mari, Francesca; Renieri, Alessandra; Benetti, Elisa; Canitano, Roberto; Waisfisz, Quinten; Plomp, Astrid S.; Huisman, Sylvia A.; Wilson, Golder N.; Cathey, Sara S.; Louie, Raymond J.; Del Gaudio, Daniela; Waggoner, Darrel; Kacker, Shawn; Nugent, Kimberly M.; Roeder, Elizabeth R.; Bruel, Ange-Line; Thevenon, Julien; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Kaiser, Frank J.; Kamphausen, Susanne B.; Abou Jamra, Rami; Weckhuysen, Sarah; Dalle, Carine; Depienne, Christel Share Save
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis (vol 17, pg 189, 2019) Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A. Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine Share Save
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A. Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; Van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine Share Save
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy Batzir, Nurit Assia; Bhagwat, Pranjali Kishor; Larson, Austin; Akdemir, Zeynep Coban; Baglaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Colon, Yazmin Enchautegui; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; Jhangiani, Shalini N.; Isidor, Bertrand; Littlejohn, Rebecca O.; Liu, Pengfei; Magoulas, Pilar; Fan, Helen Mar; Marom, Ronit; McLean, Scott; Nezarati, Marjan M.; Nugent, Kimberly M.; Petersen, Michael B.; Rocha, Maria L.; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O.; Posey, Jennifer E.; Lupski, James R.; Beaudet, Arthur L.; Wangler, Michael F. Share Save
Mutation update for the SATB2 gene Zarate, Yuri A.; Bosanko, Katherine A.; Caffrey, Aisling R.; Bernstein, Jonathan A.; Martin, Donna M.; Williams, Marc S.; Berry-Kravis, Elizabeth M.; Mark, Paul R.; Manning, Melanie A.; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H.; Estrada-Veras, Juvianee, I; vanDooren, Marieke F.; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P.; Maarup, Timothy J.; Alsters, Suzanne I. M.; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M.; Turner, Lesley; Raggio, Victor; Spangenberg, Lucia; Garcia-Minaur, Sixto; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C.; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L. Share Save
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants Johnston, Jennifer J.; van der Smagt, Jasper J.; Rosenfeld, Jill A.; Pagnamenta, Alistair T.; Alswaid, Abdulrahman; Baker, Eva H.; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Vu Chi Dung; Emrick, Lisa; Everman, David B.; van Gassen, Koen L.; Gulsuner, Suleyman; Harr, Margaret H.; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A.; McDonald-McGinn, Donna M.; Ngoc Thi Bich Can; Peleg, Amir; Roeder, Elizabeth R.; Rogers, R. Curtis; Sagi-Dain, Lena; Sapp, Julie C.; Schaffer, Alejandro A.; Schanze, Denny; Stewart, Helen; Taylor, Jenny C.; Verbeek, Nienke E.; Walkiewicz, Magdalena A.; Zackai, Elaine H.; Zweier, Christiane; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G. Share Save
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV Szafranski, Przemyslaw; Kosmider, Ewelina; Liu, Qian; Karolak, Justyna A.; Currie, Lauren; Parkash, Sandhya; Kahler, Stephen G.; Roeder, Elizabeth; Littlejohn, Rebecca O.; DeNapoli, Thomas S.; Shardonofsky, Felix R.; Henderson, Cody; Powers, George; Poisson, Virginie; Berube, Denis; Oligny, Luc; Michaud, Jacques L.; Janssens, Sandra; De Coen, Kris; Van Dorpe, Jo; Dheedene, Annelies; Harting, Matthew T.; Weaver, Matthew D.; Khan, Amir M.; Tatevian, Nina; Wambach, Jennifer; Gibbs, Kathleen A.; Popek, Edwina; Gambin, Anna; Stankiewicz, Pawel Share Save
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype Chen, Li; Jensik, Philip J.; Alaimo, Joseph T.; Walkiewicz, Magdalena; Berger, Seth; Roeder, Elizabeth; Faqeih, Eissa A.; Bernstein, Jonathan A.; Smith, Ann C. M.; Mullegama, Sureni V.; Saffen, David W.; Elsea, Sarah H. Share Save
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly Braun, Daniela A.; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A.; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F. P.; Hoogstraten, Charlotte A.; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaelle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I. Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F.; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Bjorn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E.; Pabst, Werner L.; Warejko, Jillian K.; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D.; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T.; Gaffney, Patrick M.; Gipson, Patrick E.; Hsu, Chyong-Hsin; Kari, Jameela A.; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R.; Rump, Patrick; Schnur, Rhonda E.; Shiihara, Takashi; Sinha, Manish D.; Soliman, Neveen A.; Soulami, Kenza; Sweetser, David A.; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H.; Vatanavicharn, Nithiwat; Waxler, Jessica L.; Wierenga, Klaas J.; Wolf, Matthias T. F.; Wong, Sik-Nin; Leidel, Sebastian A.; Truglio, Gessica; Dedon, Peter C.; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P.; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm Share Save
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (vol 136, pg 377, 2017) Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill A.; Al Balwi, Mohammed; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Al Shamsi, Aisha M.; Komara, Makanko; Ali, Bassam R.; Roeder, Elizabeth; McAuley, Laura; Roy, Daniel S.; Manchester, David K.; Magoulas, Pilar; King, Lauren E.; Hannig, Vickie; Bonneau, Dominique; Denomme-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bezieau, Stephane; Cogne, Benjamin; Andrieux, Joris; Zhu, Wenmiao; He, Weimin; Vetrini, Francesco; Ward, Patricia A.; Cheung, Sau Wai; Bi, Weimin; Eng, Christine M.; Lupski, James R.; Yang, Yaping; Patel, Ankita; Lalani, Seema R.; Xia, Fan; Stankiewicz, Pawel Share Save
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (vol 100, pg 352, 2017) Kuery, Sebastien; Besnard, Thomas; Ebstein, Frederic; Khan, Tahir N.; Gambin, Tomasz; Douglas, Jessica; Bacino, Carlos A.; Craigen, William J.; Sanders, Stephan J.; Lehmann, Andrea; Latypova, Xenia; Khan, Kamal; Pacault, Mathilde; Sacharow, Stephanie; Glaser, Kimberly; Bieth, Eric; Perrin-Sabourin, Laurence; Jacquemont, Marie-Line; Cho, Megan T.; Roeder, Elizabeth; Denomme-Pichon, Anne-Sophie; Monaghan, Kristin G.; Yuan, Bo; Xia, Fan; Simon, Sylvain; Bonneau, Dominique; Parent, Philippe; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Pasquier, Laurent; Barbouth, Deborah; Shaw, Chad A.; Patel, Ankita; Smith, Janice L.; Bi, Weimin; Schmitt, Sebastien; Deb, Wallid; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Rooryck, Caroline; Malan, Valerie; Briceno, Ignacio; Gomez, Alberto; Nugent, Kimberly M.; Gibson, James B.; Cogne, Benjamin; Lupski, James R.; Stessman, Holly A. F.; Eichler, Evan E.; Retterer, Kyle; Yang, Yaping; Redon, Richard; Katsanis, Nicholas; Rosenfeld, Jill A.; Kloetzel, Peter-Michael; Golzio, Christelle; Bezieau, Stephane; Stankiewicz, Pawe; Isidor, Bertrand Share Save
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