Center for Human Genetics & Genomics Publications | NYU Langone Health

Center for Human Genetics & Genomics Research Center for Human Genetics & Genomics Publications

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

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Mekinian, Arsene M; Georgin-Lavaille, Sophie; Ferrada, Marcela A; Savic, Sinisa; Koster, Matthew J; Kosmider, Olivier; Comont, Thibault; Heilblig, Mael; Arostegui, Juan I; Bosco, Annmarie; Bourguiba, Rim; Calvo, Katherine R; Cargo, Catherine; Cattaneo, Chiara; Chasset, François; Coelho, Henrique; Campochiaro, Corrado; Crisafulli, Francesca; Ducharme-Benard, Stephanie; Faria, Raquel; Franceschini, Franco; Frassi, Micol; Groarke, Emma M; Gurnari, Carmelo; Hakobyan, Yervand; Jamilloux, Yvan; Jurcut, Ciprian; Kirino, Yohei; Kulasekararaj, Austin; Kunimoto, Hiroyoshi; Madigan, Lauren M; Mann, Heřman F; Marvisi, Chiara; Milchert, Marcin; Morais, Sara; Sockel, Katja; Muratore, Francesco; Nakajima, Hideaki; Patnaik, Mrinal M; Regadas, Luísa; Robin, Marie; Rutgers, Abraham; Salvarani, Carlo; Sammel, Anthony M; Seebach, Joerg; Sujobert, Pierre; Tomelleri, Alessandro; Urbanski, Geoffrey; Vandergheynst, Frédéric; Vieira, Romana; Viswanatha, David S; Więsik-Szewczyk, Ewa; Diral, Elisa; Terrier, Benjamin; Patel, Bhavisha A; Fenaux, Pierre; Grayson, Peter C; Beck, David B; ,

Arthritis & rheumatology (Hoboken, N.J.). 2025 Aug 11;

The Somatic Mosaicism across Human Tissues Network

Coorens, Tim H H; Oh, Ji Won; Choi, Yujin Angelina; Lim, Nam Seop; Zhao, Boxun; Voshall, Adam; Abyzov, Alexej; Antonacci-Fulton, Lucinda; Aparicio, Samuel; Ardlie, Kristin G; Bell, Thomas J; Bennett, James T; Bernstein, Bradley E; Blanchard, Thomas G; Boyle, Alan P; Buenrostro, Jason D; Burns, Kathleen H; Chen, Fei; Chen, Rui; Choudhury, Sangita; Doddapaneni, Harsha V; Eichler, Evan E; Evrony, Gilad D; Faith, Melissa A; Fazzio, Thomas G; Fulton, Robert S; Garber, Manuel; Gehlenborg, Nils; Germer, Soren; Getz, Gad; Gibbs, Richard A; Hernandez, Raquel G; Jin, Fulai; Korbel, Jan O; Landau, Dan A; Lawson, Heather A; Lennon, Niall J; Li, Heng; Li, Yan; Loh, Po-Ru; Marth, Gabor; McConnell, Michael J; Mills, Ryan E; Montgomery, Stephen B; Natarajan, Pradeep; Park, Peter J; Satija, Rahul; Sedlazeck, Fritz J; Shao, Diane D; Shen, Hui; Stergachis, Andrew B; Underhill, Hunter R; Urban, Alexander E; VonDran, Melissa W; Walsh, Christopher A; Wang, Ting; Wu, Tao P; Zong, Chenghang; Lee, Eunjung Alice; Vaccarino, Flora M; ,

Nature. 2025 Jul ; 643:47-59

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 Jun 23; 10:

Clonal dominance: mutations in VEXAS syndrome take advantage of inflammation

Magaziner, Samuel J; Beck, David B

Nature reviews. Rheumatology. 2025 Jun 06;

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

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

Genetics. 2025 Jun 04; 230:

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

Journal of clinical investigation. 2025 Jun 02; 135:

Improving Outcomes in VEXAS Syndrome: The Need for Prospective Data

Hadjadj, Jerome; Beck, David B

Rheumatology (Oxford). 2025 Jun 01; 64:3225-3226

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: