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

Clonal dominance: mutations in VEXAS syndrome take advantage of inflammation

Magaziner, Samuel J; Beck, David B

Nature reviews. Rheumatology. 2025 Jun 06;

Chemotherapy and the somatic mutation burden of sperm

Picciotto, Shany; Arenas-Gallo, Camilo; Toren, Amos; Mehrian-Shai, Ruty; Daly, Bryan; Rhodes, Stephen; Prunty, Megan; Liu, Ruolin; Bohorquez, Anyull; Grońska-Pęski, Marta; Melanaphy, Shana; Callum, Pamela; Lassen, Emilie; Skytte, Anne-Bine; Obeng, Rebecca C; Barbieri, Christopher; Gallogly, Molly; Cooper, Brenda; Daunov, Katherine; Beard, Lydia; Van-Besien, Koen; Halpern, Joshua; Pan, Quintin; Evrony, Gilad D; Adalsteinsson, Viktor A; Shoag, Jonathan E

JCI insight. 2025 May 13;

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia

Harrison, Benjamin A; Mizrahi-Powell, Emma; Pappas, John; Thomas, Kristen; Vasishta, Subrahmanya; Hebbar, Shripad; Shukla, Anju; Nayak, Shalini S; Truong, Tina K; Woroch, Amy; Kharbutli, Yara; Gelb, Bruce D; Mintz, Cassie S; Evrony, Gilad D; Smogorzewska, Agata

The Journal of clinical investigation. 2025 Apr 17;

The common HAQ STING allele prevents clinical penetrance of COPA syndrome

Simchoni, Noa; Koide, Shogo; Likhite, Maryel; Kuchitsu, Yoshihiko; Kadirvel, Senkottuvelan; Law, Christopher S; Elicker, Brett M; Kurra, Santosh; Wong, Margaret Mei-Kay; Yuan, Bo; Grossi, Alice; Laxer, Ronald M; Volpi, Stefano; Dissanayake, Dilan; Taguchi, Tomohiko; Beck, David B; Vogel, Tiphanie P; Shum, Anthony K

Journal of experimental medicine. 2025 Apr 07; 222:

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 Apr 04;

Fork-barrier-independent roles of topoisomerase I in the ribosomal DNA

Molinar, Temistocles; Sultanov, Daniel; Klein, Hannah; Hochwagen, Andreas

Genetics. 2025 Mar 22;

Direct measurement of the male germline mutation rate in individuals using sequential sperm samples

Shoag, Jonathan E; Srinivasa, Amoolya; Loh, Caitlin A; Liu, Mei Hong; Lassen, Emilie; Melanaphy, Shana; Costa, Benjamin M; Grońska-Pęski, Marta; Jabara, Nisrine T; Picciotto, Shany; Choi, Una; Bohorquez, Anyull D; Barbieri, Christopher E; Callum, Pamela; Skytte, Anne-Bine; Evrony, Gilad D

Nature communications. 2025 Mar 15; 16:2546

Ultra-rapid droplet digital PCR enables intraoperative tumor quantification

Murphy, Zachary R; Bianchini, Emilia C; Smith, Andrew; Körner, Lisa I; Russell, Teresa; Reinecke, David; Maarouf, Nader; Wang, Yuxiu; Golfinos, John G; Miller, Alexandra M; Snuderl, Matija; Orringer, Daniel A; Evrony, Gilad D

Med (New York, N.Y.). 2025 Feb 25; 100604

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Center for Human Genetics & Genomics Publications | NYU Langone Health