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.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
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
Genetics in medicine. 2022 Jul ; 24:1583-1591
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation
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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
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
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
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
Genetics in medicine. 2021 Jun ; 23:1050-1057
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Genome medicine. 2021 Apr 19; 13:63