Center for Human Genetics & Genomics Publications
Faculty in NYU Langone’s Center for Human Genetics and Genomics frequently publish research in leading peer-reviewed publications. Read the latest scientific papers to learn more about our work.
Recent Publications
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Nature communications. 2025 Nov 26; 16:10545
Establishing a consensus definition of VEXAS flare for clinical research
Rheumatology (Oxford, England). 2025 Nov 25;
Characterizing VEXAS syndrome in women: Findings from an international multicenter study
Journal of internal medicine. 2025 Nov ; 298:516-524
Joint disruption of Ret and Ednrb transcription shifts cell fate trajectories in the enteric nervous system in Hirschsprung disease
Proceedings of the National Academy of Sciences of the United States of America (PNAS). 2025 Oct 28; 122:e2507062122
Distinct characteristics of VEXAS-causative UBA1 M41 and recurrent functional non-M41 mutations
Leukemia. 2025 Oct 09;
Mapping the infectious burden in VEXAS syndrome: a systematic review and rationale for prevention
Lancet rheumatology. 2025 Oct ; 7:e734-e744
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders
bioRxiv.org : the preprint server for biology. 2025 Sep 04;
The Present and Future of Genetic Sequencing as Applied to Diagnosis and Management in Rheumatology
Arthritis & rheumatology. 2025 Sep ; 77:1147-1149