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

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 Dec ; 39:2872-2880

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

Nature communications. 2025 Nov 26; 16:10545

Establishing a consensus definition of VEXAS flare for clinical research

Weeks, Lachelle D; Hammond, Danielle; Savic, Sinisa; Heiblig, Maël; Chowdhury, Onima; Mekinian, Arsène; Gurnari, Carmelo; Ramchandren, Radhakrishnan; Georgin-Lavialle, Sophie; Ferrada, Marcela A; Buckley, Sarah A; Harder, Bryan G; Beck, David B; Koster, Matthew J

Rheumatology (Oxford). 2025 Nov 25;

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

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