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

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, England). 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

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