Clinical Genetics Research | NYU Langone Health

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Division of Clinical Genetics Clinical Genetics Research

Clinical Genetics Research

Investigators in NYU Langone’s Division of Clinical Genetics perform research in genetics with the aim to improve treatments for children with genetic conditions. The division’s pediatric research foci include arthrogryposis, autism spectrum disorder, developmental delays, overgrowth syndrome, and skeletal dysplasia. Through our Pediatric Undiagnosed Diseases Program, we study families with suspected genetic diseases for whom all clinical testing has been nondiagnostic.

Faculty are studying how specific genetic factors affect the presentation of autism in hopes of creating individualized care for this increasingly prevalent condition. This research covers novel genes and novel genetic variants associated with diverse conditions, including chromosomal syndrome, neurodevelopmental disorders, and Mendelian syndromes.

Members of the division also investigate how genetic factors affect developmental delays in children and study the role of genetics in overgrowth syndromes in children and adults to help identify associated cancers.

Recent Publications

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, Kerith-Rae; Carlston, Colleen M; Blok, Laura E R; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N; Friedman, Jennifer; Pappas, John G; Rabin, Rachel; Nowak, Catherine B; Douglas, Jessica; Wilson, Theodore E; Guillen Sacoto, Maria J; Mullegama, Sureni V; Palculict, Timothy Blake; Kirk, Edwin P; Pinner, Jason R; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P; Slavotinek, Anne M; Voineagu, Irina; Carey, John C; Buckley, Michael F; Schenck, Annette; Harvey, Robert J; Roscioli, Tony

Genetics in medicine. 2022 Sep ; 24:1952-1966

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, Frédéric; 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

Genetics in medicine. 2022 Jul ; 24:1583-1591

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation

Halvorsen, Matthew; Gould, Laura; Wang, Xiaohan; Grant, Gariel; Moya, Raquel; Rabin, Rachel; Ackerman, Michael J; Tester, David J; Lin, Peter T; Pappas, John G; Maurano, Matthew T; Goldstein, David B; Tsien, Richard W; Devinsky, Orrin

Proceedings of the National Academy of Sciences of the United States of America (PNAS). 2021 12 28; 118:

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Schirwani, Schaida; Albaba, Shadi; Carere, Deanna Alexis; Guillen Sacoto, Maria J; Milan Zamora, Francisca; Si, Yue; Rabin, Rachel; Pappas, John; Renaud, Deborah L; Hauser, Natalie; Reid, Evan; Blanchet, Patricia; Foulds, Nichola; Dixit, Abhijit; Fisher, Richard; Armstrong, Ruth; Isidor, Bertrand; Cogne, Benjamin; Schrier Vergano, Samantha; Demirdas, Serwet; Dykzeul, Natalie; Cohen, Julie S; Grand, Katheryn; Morel, Dayna; Slavotinek, Anne; Albassam, Hessa F; Naik, Swati; Dean, John; Ragge, Nicola; Cinzia, Costa; Tedesco, Maria Giovanna; Harrison, Rachel E; Bouman, Arjan; Palen, Emily; Challman, Thomas D; Willemsen, Marjolein H; Vogt, Julie; Cunniff, Christopher; Bergstrom, Katherine; Walia, Jagdeep S; Bruel, Ange-Line; Kini, Usha; Alkuraya, Fowzan S; Slegesky, Valerie; Meeks, Naomi; Girotto, Paula; Johnson, Diana; Newbury-Ecob, Ruth; Ockeloen, Charlotte W; Prontera, Paolo; Lynch, Sally Ann; Li, Dong; Graham, John M; Balasubramanian, Meena

American journal of medical genetics. Part A. 2021 Nov ; 185:3446-3458

PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy

Panneerselvam, Sugi; Wang, Julia; Zhu, Wenmiao; Dai, Hongzheng; Pappas, John G; Rabin, Rachel; Low, Karen J; Rosenfeld, Jill A; Emrick, Lisa; Xiao, Rui; Xia, Fan; Yang, Yaping; Eng, Christine M; Anderson, Anne; Chau, Vann; Soler-Alfonso, Claudia; Streff, Haley; Lalani, Seema R; Mercimek-Andrews, Saadet; Bi, Weimin

Clinical genetics. 2021 Aug ; 100:227-233

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Hirsch, Yoel; Tangshewinsirikul, Chayada; Booth, Kevin T; Azaiez, Hela; Yefet, Devorah; Quint, Adina; Weiden, Tzvi; Brownstein, Zippora; Macarov, Michal; Davidov, Bella; Pappas, John; Rabin, Rachel; Kenna, Margaret A; Oza, Andrea M; Lafferty, Katherine; Amr, Sami S; Rehm, Heidi L; Kolbe, Diana L; Frees, Kathy; Nishimura, Carla; Luo, Minjie; Farra, Chantal; Morton, Cynthia C; Scher, Sholem Y; Ekstein, Josef; Avraham, Karen B; Smith, Richard J H; Shen, Jun

European journal of human genetics. 2021 Jun ; 29:988-997

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

Zarate, Yuri A; Uehara, Tomoko; Abe, Kota; Oginuma, Masayuki; Harako, Sora; Ishitani, Shizuka; Lehesjoki, Anna-Elina; Bierhals, Tatjana; Kloth, Katja; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Anderson, Katherine; Viskochil, David; Edgar-Zarate, Courtney L; Sacoto, Maria J Guillen; Schnur, Rhonda E; Morrow, Michelle M; Sanchez-Valle, Amarilis; Pappas, John; Rabin, Rachel; Muona, Mikko; Anttonen, Anna-Kaisa; Platzer, Konrad; Luppe, Johannes; Gburek-Augustat, Janina; Kaname, Tadashi; Okamoto, Nobuhiko; Mizuno, Seiji; Kaido, Yusaku; Ohkuma, Yoshiaki; Hirose, Yutaka; Ishitani, Tohru; Kosaki, Kenjiro

Genetics in medicine. 2021 Jun ; 23:1050-1057

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Gillentine, Madelyn A; Wang, Tianyun; Hoekzema, Kendra; Rosenfeld, Jill; Liu, Pengfei; Guo, Hui; Kim, Chang N; De Vries, Bert B A; Vissers, Lisenka E L M; Nordenskjold, Magnus; Kvarnung, Malin; Lindstrand, Anna; Nordgren, Ann; Gecz, Jozef; Iascone, Maria; Cereda, Anna; Scatigno, Agnese; Maitz, Silvia; Zanni, Ginevra; Bertini, Enrico; Zweier, Christiane; Schuhmann, Sarah; Wiesener, Antje; Pepper, Micah; Panjwani, Heena; Torti, Erin; Abid, Farida; Anselm, Irina; Srivastava, Siddharth; Atwal, Paldeep; Bacino, Carlos A; Bhat, Gifty; Cobian, Katherine; Bird, Lynne M; Friedman, Jennifer; Wright, Meredith S; Callewaert, Bert; Petit, Florence; Mathieu, Sophie; Afenjar, Alexandra; Christensen, Celenie K; White, Kerry M; Elpeleg, Orly; Berger, Itai; Espineli, Edward J; Fagerberg, Christina; Brasch-Andersen, Charlotte; Hansen, Lars Kjærsgaard; Feyma, Timothy; Hughes, Susan; Thiffault, Isabelle; Sullivan, Bonnie; Yan, Shuang; Keller, Kory; Keren, Boris; Mignot, Cyril; Kooy, Frank; Meuwissen, Marije; Basinger, Alice; Kukolich, Mary; Philips, Meredith; Ortega, Lucia; Drummond-Borg, Margaret; Lauridsen, Mathilde; Sorensen, Kristina; Lehman, Anna; Lopez-Rangel, Elena; Levy, Paul; Lessel, Davor; Lotze, Timothy; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Vento, Jodie; Vats, Divya; Benman, L Manace; Mckee, Shane; Mirzaa, Ghayda M; Muss, Candace; Pappas, John; Peeters, Hilde; Romano, Corrado; Elia, Maurizio; Galesi, Ornella; Simon, Marleen E H; van Gassen, Koen L I; Simpson, Kara; Stratton, Robert; Syed, Sabeen; Thevenon, Julien; Palafoll, Irene Valenzuela; Vitobello, Antonio; Bournez, Marie; Faivre, Laurence; Xia, Kun; Earl, Rachel K; Nowakowski, Tomasz; Bernier, Raphael A; Eichler, Evan E

Genome medicine. 2021 Apr 19; 13:63