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

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

The 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 : the preprint server for biology. 2025 Sep 04;

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: