Not logged in Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill, V; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K. G.; Thiffault, Sophie Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Ostergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R. Share Save
DLG4-related synaptopathy: a new rare brain disorder Rodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A.; Marcos-Alcalde, Inigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogne, Benjamin; Coubes, Christine; de Man, Stella A.; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; Garcia-Minaur, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjorn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Mueller, Amelie J.; O'Leary, Melanie; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlueter, Agatha; Schoenewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmee; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmueller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gomez-Puertas, Paulino; Pujol, Aurora; Tumer, Zeynep Share Save
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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Connaughton, Dervla M.; Dai, Rufeng; Owen, Danielle J.; Marquez, Jonathan; Mann, Nina; Graham-Paquin, Adda L.; Nakayama, Makiko; Coyaud, Etienne; Laurent, Estelle Mn; St-Germain, Jonathan R.; Blok, Lot Snijders; Vino, Arianna; Klambt, Verena; Deutsch, Konstantin; Wu, Chen-Han Wilfred; Kolvenbach, Caroline M.; Kause, Franziska; Ottlewski, Isabel; Schneider, Ronen; Kitzler, Thomas M.; Majmundar, Amar J.; Buerger, Florian; Onuchic-Whitford, Ana C.; Mao Youying; Kolb, Amy; Salmanullah, Daanya; Chen, Evan; van der Ven, Amelie T.; Rao, Jia; Ityel, Hadas; Seltzsam, Steve; Rieke, Johanna M.; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Dworschak, Gabriel C.; Hermle, Tobias; Alders, Marielle; Bartolomaeus, Tobias; Bauer, Stuart B.; Baum, Michelle A.; Brilstra, Eva H.; Challman, Thomas D.; Zyskind, Jacob; Costin, Carrie E.; Dipple, Katrina M.; Duijkers, Floor A.; Ferguson, Marcia; Fitzpatrick, David R.; Fick, Roger; Glass, Ian A.; Hulick, Peter J.; Kline, Antonie D.; Krey, Ilona; Kumar, Selvin; Lu, Weining; Marco, Elysa J.; Wentzensen, Ingrid M.; Mefford, Heather C.; Platzer, Konrad; Povolotskaya, Inna S.; Savatt, Juliann M.; Shcherbakova, Natalia, V; Senguttuvan, Prabha; Squire, Audrey E.; Stein, Deborah R.; Thiffault, Isabelle; Voinova, Victoria Y.; Somers, Michael J. G.; Ferguson, Michael A.; Traum, Avram Z.; Daouk, Ghaleb H.; Daga, Ankana; Rodig, Nancy M.; Terhal, Paulien A.; van Binsbergen, Ellen; Eid, Loai A.; Tasic, Velibor; Rasouly, Hila Milo; Lim, Tze Y.; Ahram, Dina F.; Gharavi, Ali G.; Reutter, Heiko M.; Rehm, Heidi L.; MacArthur, Daniel G.; Lek, Monkol; Laricchia, Kristen M.; Lifton, Richard P.; Xu, Hong; Mane, Shrikant M.; Sanna-Cherchi, Simone; Sharrocks, Andrew D.; Raught, Brian; Fisher, Simon E.; Bouchard, Maxime; Khokha, Mustafa K.; Shril, Shirlee; Hildebrandt, Friedhelm Share Save
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark Share Save
Insufficient Evidence for Autism-Specific Genes Myers, Scott M.; Challman, Thomas D.; Bernier, Raphael; Bourgeron, Thomas; Chung, Wendy K.; Constantino, John N.; Eichler, Evan E.; Jacquemont, Sebastien; Miller, David T.; Mitchell, Kevin J.; Zoghbi, Huda Y.; Martin, Christa Lese; Ledbetter, David H. Share Save
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (vol 19, pg 238, 2020) Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; Mckee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark Share Save
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