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

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

Parra, Alejandro; Rabin, Rachel; Pappas, John; Pascual, Patricia; Cazalla, Mario; Arias, Pedro; Gallego-Zazo, Natalia; Santana, Alfredo; Arroyo, Ignacio; Artigas, Mercè; Pachajoa, Harry; Alanay, Yasemin; Akgun-Dogan, Ozlem; Ruaud, Lyse; Couque, Nathalie; Levy, Jonathan; Porras-Hurtado, Gloria Liliana; Santos-Simarro, Fernando; Ballesta-Martinez, Maria Juliana; Guillén-Navarro, Encarna; Muñoz-Hernández, Hugo; Nevado, Julián; Tenorio-Castano, Jair; Lapunzina, Pablo

Genes. 2023 May 29; 14:

Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome

Rizvi, Midhat; Truong, Tina K; Zhou, Janet; Batta, Manav; Moran, Ellen S; Pappas, John; Chu, Mary Lynn; Caluseriu, Oana; Evrony, Gilad D; Leslie, Elaine M; Cordat, Emmanuelle

Human molecular genetics. 2023 Apr 20; 32:1552-1564

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

Fletcher, Sally C; Hall, Charlotte L; Kennedy, Tristan J; Pajusalu, Sander; Wojcik, Monica H; Boora, Uncaar; Li, Chan; Oja, Kaisa Teele; Hendrix, Eline; Westrip, Christian Ae; Andrijes, Regina; Piasecka, Sonia K; Singh, Mansi; El-Asrag, Mohammed E; Ptasinska, Anetta; Tillmann, Vallo; Higgs, Martin R; Carere, Deanna Alexis; Beggs, Andrew D; Pappas, John; Rabin, Rachel; Smerdon, Stephen J; Stewart, Grant S; Õunap, Katrin; Coleman, Mathew L

Journal of clinical investigation. 2023 Apr 03; 133:

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Muffels, Irena J J; Schene, Imre F; Rehmann, Holger; Massink, Maarten P G; van der Wal, Maria M; Bauder, Corinna; Labeur, Martha; Armando, Natalia G; Lequin, Maarten H; Houben, Michiel L; Giltay, Jaques C; Haitjema, Saskia; Huisman, Albert; Vansenne, Fleur; Bluvstein, Judith; Pappas, John; Shailee, Lala V; Zarate, Yuri A; Mokry, Michal; van Haaften, Gijs W; Nieuwenhuis, Edward E S; Refojo, Damian; van Wijk, Femke; Fuchs, Sabine A; van Hasselt, Peter M

American journal of human genetics. 2023 Jan 05; 110:146-160

Barriers to family history collection among Spanish-speaking primary care patients: a BRIDGE qualitative study

Liebermann, Erica; Taber, Peter; Vega, Alexis S.; Daly, Brianne M.; Goodman, Melody S.; Bradshaw, Richard; Chan, Priscilla A.; Chavez-Yenter, Daniel; Hess, Rachel; Kessler, Cecilia; Kohlmann, Wendy; Low, Sara; Monahan, Rachel; Kawamoto, Kensaku; Del Fiol, Guilherme; Buys, Saundra S.; Sigireddi, Meenakshi; Ginsburg, Ophira; Kaphingst, Kimberly A.

PEC innovation. 2022 Dec 01; 1:?-?

Association of Disparities in Family History and Family Cancer History in the Electronic Health Record With Sex, Race, Hispanic or Latino Ethnicity, and Language Preference in 2 Large US Health Care Systems

Chavez-Yenter, Daniel; Goodman, Melody S; Chen, Yuyu; Chu, Xiangying; Bradshaw, Richard L; Lorenz Chambers, Rachelle; Chan, Priscilla A; Daly, Brianne M; Flynn, Michael; Gammon, Amanda; Hess, Rachel; Kessler, Cecelia; Kohlmann, Wendy K; Mann, Devin M; Monahan, Rachel; Peel, Sara; Kawamoto, Kensaku; Del Fiol, Guilherme; Sigireddi, Meenakshi; Buys, Saundra S; Ginsburg, Ophira; Kaphingst, Kimberly A

JAMA network open. 2022 10 03; 5:e2234574

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

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Clinical Genetics Research | NYU Langone Health