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.

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

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

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; Zacher, Pia; Abou Jamra, Rami; Klöckner, Chiara; McGaughran, Julie; Kohlhase, Jürgen; Schuhmann, Sarah; Moran, Ellen; Pappas, John; Raas-Rothschild, Annick; Sacoto, Maria J Guillen; Henderson, Lindsay B; Palculict, Timothy Blake; Mullegama, Sureni V; Zghal Elloumi, Houda; Reich, Adi; Schrier Vergano, Samantha A; Wahl, Erica; Reis, André; Zweier, Christiane

Orphanet journal of rare diseases. 2021 Mar 18; 16:136

Germline AGO2 mutations impair RNA interference and human neurological development

Lessel, Davor; Zeitler, Daniela M; Reijnders, Margot R F; Kazantsev, Andriy; Hassani Nia, Fatemeh; Bartholomäus, Alexander; Martens, Victoria; Bruckmann, Astrid; Graus, Veronika; McConkie-Rosell, Allyn; McDonald, Marie; Lozic, Bernarda; Tan, Ee-Shien; Gerkes, Erica; Johannsen, Jessika; Denecke, Jonas; Telegrafi, Aida; Zonneveld-Huijssoon, Evelien; Lemmink, Henny H; Cham, Breana W M; Kovacevic, Tanja; Ramsdell, Linda; Foss, Kimberly; Le Duc, Diana; Mitter, Diana; Syrbe, Steffen; Merkenschlager, Andreas; Sinnema, Margje; Panis, Bianca; Lazier, Joanna; Osmond, Matthew; Hartley, Taila; Mortreux, Jeremie; Busa, Tiffany; Missirian, Chantal; Prasun, Pankaj; Lüttgen, Sabine; Mannucci, Ilaria; Lessel, Ivana; Schob, Claudia; Kindler, Stefan; Pappas, John; Rabin, Rachel; Willemsen, Marjolein; Gardeitchik, Thatjana; Löhner, Katharina; Rump, Patrick; Dias, Kerith-Rae; Evans, Carey-Anne; Andrews, Peter Ian; Roscioli, Tony; Brunner, Han G; Chijiwa, Chieko; Lewis, M E Suzanne; Jamra, Rami Abou; Dyment, David A; Boycott, Kym M; Stegmann, Alexander P A; Kubisch, Christian; Tan, Ene-Choo; Mirzaa, Ghayda M; McWalter, Kirsty; Kleefstra, Tjitske; Pfundt, Rolph; Ignatova, Zoya; Meister, Gunter; Kreienkamp, Hans-Jürgen

Nature communications. 2020 11 16; 11:5797

Genotype-phenotype correlation at codon 1740 of SETD2

Rabin, Rachel; Radmanesh, Alireza; Glass, Ian A; Dobyns, William B; Aldinger, Kimberly A; Shieh, Joseph T; Romoser, Shelby; Bombei, Hannah; Dowsett, Leah; Trapane, Pamela; Bernat, John A; Baker, Janice; Mendelsohn, Nancy J; Popp, Bernt; Siekmeyer, Manuela; Sorge, Ina; Sansbury, Francis Hugh; Watts, Patrick; Foulds, Nicola C; Burton, Jennifer; Hoganson, George; Hurst, Jane A; Menzies, Lara; Osio, Deborah; Kerecuk, Larissa; Cobben, Jan M; Jizi, Khadijé; Jacquemont, Sebastien; Bélanger, Stacey A; Löhner, Katharina; Veenstra-Knol, Hermine E; Lemmink, Henny H; Keller-Ramey, Jennifer; Wentzensen, Ingrid M; Punj, Sumit; McWalter, Kirsty; Lenberg, Jerica; Ellsworth, Katarzyna A; Radtke, Kelly; Akbarian, Schahram; Pappas, John

American journal of medical genetics. Part A. 2020 Sep ; 182:2037-2048

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

Guillen Sacoto, Maria J; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane

American journal of human genetics. 2020 Aug 06; 107:352-363