
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
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia
The Journal of clinical investigation. 2025 Apr 17;
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
American journal of human genetics. 2025 Mar 06; 112:554-571
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
American journal of human genetics. 2025 Feb 06; 112:394-413
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders
Genetics in medicine. 2024 Nov 11; 101326
Evaluation of the Stronger Together Peer Mentoring Model Among Patients With Breast and Gynecologic Cancer in Viet Nam
JCO global oncology. 2024 Nov ; 10:e2400031
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Genetics in medicine. 2024 Sep 10; 101251
Uptake of Cancer Genetic Services for Chatbot vs Standard-of-Care Delivery Models: The BRIDGE Randomized Clinical Trial
JAMA network open. 2024 Sep 03; 7:e2432143
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
Epilepsia. 2024 Sep ; 65:2728-2750