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

Characterizing VEXAS syndrome in women: Findings from an international multicenter study

Bourguiba, Rim; Lacombe, Valentin; Beck, David; Martín-Nares, Eduardo; Jachiet, Vincent; Comont, Thibault; Galland, Joris; Heiblig, Mael; Nguyen, Alexandre; Aouba, Achille; Boulu, Xavier; Curie, Alexandre; Terrier, Benjamin; Bescond, Charles; Koster, Matthew; Kirino, Yohei; Kosmider, Olivier; Mekininan, Arsene; Georgin-Lavialle, Sophie

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

Fine, Ryan D; Chubaryov, Rebecca; Fu, Mingzhou; Grullon, Gabriel; Chakravarti, Aravinda

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

Sakuma, Maki; Wang, Amy K; Magaziner, Samuel J; Keane, Sachiko P; Meggendorfer, Manja; Kern, Wolfgang; Haferlach, Claudia; Haferlach, Torsten; Beck, David B; Walter, Wencke

Leukemia. 2025 Oct 09;

Mapping the infectious burden in VEXAS syndrome: a systematic review and rationale for prevention

Ribier, Valentine; Hadjadj, Jérôme; Jachiet, Vincent; Mekinian, Arsène; Terrier, Benjamin; Georgin-Lavialle, Sophie; Grayson, Peter C; Beck, David B; Savic, Sinisa; Dubée, Vincent; Lacombe, Valentin

Lancet rheumatology. 2025 Oct ; 7:e734-e744

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders

Hennick, Kelsey; Sui, Yang; Karunakaran, Druha; Nicollela, Ally; Leonard, Rachel; Meyer-Schuman, Rebecca; Berk-Rauch, Hanna; Wang, Tianyun; Chakravarti, Aravinda; Zoghbi, Huda Y; Eichler, Evan E; Nowakowski, Tomasz J

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

Liebowitz, Jason; Rasouly, Hila Milo; Bogyo, Kelsie; Petukhova, Lynn; Bernstein, Elana J; Schwartz, Daniella M; Grayson, Peter C; Beck, David; Luo, Yiming

Arthritis & rheumatology. 2025 Sep ; 77:1147-1149

Clonal dominance: mutations in VEXAS syndrome take advantage of inflammation

Magaziner, Samuel J; Beck, David B

Nature reviews. Rheumatology. 2025 Sep ; 21:511-512

Synergistic effects of Ret coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system

Fries, Lauren E; Grullon, Gabriel; Berk-Rauch, Hanna E; Chakravarti, Aravinda; Chatterjee, Sumantra

bioRxiv.org : the preprint server for biology. 2025 Aug 14;

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Center for Human Genetics & Genomics Publications | NYU Langone Health