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

Identification of the Molecular Components of Enhancer-Mediated Gene Expression Variation in Multiple Tissues Regulating Blood Pressure

Yaacov, Or; Mathiyalagan, Prabhu; Berk-Rauch, Hanna E; Ganesh, Santhi K; Zhu, Luke; Hoffmann, Thomas J; Iribarren, Carlos; Risch, Neil; Lee, Dongwon; Chakravarti, Aravinda

Hypertension (Dallas, Tex. : 1979). 2024 Jul ; 81:1500-1510

Interleukin-1 Receptor Antagonist Gene (IL1RN) Variants Modulate the Cytokine Release Syndrome and Mortality of COVID-19

Attur, Mukundan; Petrilli, Christopher; Adhikari, Samrachana; Iturrate, Eduardo; Li, Xiyue; Tuminello, Stephanie; Hu, Nan; Chakravarti, Aravinda; Beck, David; Abramson, Steven B

The Journal of infectious diseases. 2024 Jun 14; 229:1740-1749

Skin Manifestations of VEXAS Syndrome and Associated Genotypes

Tan, Isabella J; Ferrada, Marcela A; Ahmad, Serene; Fike, Alice; Quinn, Kaitlin A; Groarke, Emma M; Beck, David B; Allbritton, Jill; Castelo-Soccio, Leslie; Young, Neal S; Patel, Bhavisha A; Grayson, Peter C; Cowen, Edward W

JAMA dermatology. 2024 Jun 12;

DNA mismatch and damage patterns revealed by single-molecule sequencing

Liu, Mei Hong; Costa, Benjamin M; Bianchini, Emilia C; Choi, Una; Bandler, Rachel C; Lassen, Emilie; GroÅ„ska-PÄ™ski, Marta; Schwing, Adam; Murphy, Zachary R; RosenkjÃ¦r, Daniel; Picciotto, Shany; Bianchi, Vanessa; Stengs, Lucie; Edwards, Melissa; Nunes, Nuno Miguel; Loh, Caitlin A; Truong, Tina K; Brand, Randall E; Pastinen, Tomi; Wagner, J Richard; Skytte, Anne-Bine; Tabori, Uri; Shoag, Jonathan E; Evrony, Gilad D

Nature. 2024 Jun 12;

Ultra-Rapid Droplet Digital PCR Enables Intraoperative Tumor Quantification

Murphy, Zachary R; Bianchini, Emilia C; Smith, Andrew; KÃ¶rner, Lisa I; Russell, Teresa; Reinecke, David; Wang, Yuxiu; Snuderl, Matija; Orringer, Daniel A; Evrony, Gilad D

medRxiv : the preprint server for health sciences. 2024 May 31;

Shared and distinct mechanisms of UBA1 inactivation across different diseases

Collins, Jason C; Magaziner, Samuel J; English, Maya; Hassan, Bakar; Chen, Xiang; Balanda, Nicholas; Anderson, Meghan; Lam, Athena; Fernandez-Pol, Sebastian; Kwong, Bernice; Greenberg, Peter L; Terrier, Benjamin; Likhite, Mary E; Kosmider, Olivier; Wang, Yan; Samara, Nadine L; Walters, Kylie J; Beck, David B; Werner, Achim

EMBO journal. 2024 May ; 43:1919-1946

Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome

Ospina Cardona, Daniela; Rodriguez-Pinto, Ignasi; Iosim, Sonia; Bonet, Nuria; Mensa-Vilaro, Anna; Wong, Mei-Kay; Ho, Gary; Tormo, Marc; YagÃ¼e, Jordi; Shon, Wonwoo; Wallace, Daniel; Casals, Ferran; Beck, David B; Abuav, Rachel; Arostegui, Juan I

Rheumatology (Oxford). 2024 Mar 29;

Venous and Arterial Thrombosis in Patients with VEXAS Syndrome

Kusne, Yael; Ghorbanzadeh, Atefeh; Dulau Florea, Alina; Shalhoub, Ruba N; Alcedo Andrade, Pedro Emilio; Nghiem, Khanh; Ferrada, Marcela A; Hines, Alexander; Quinn, Kaitlin A; Panicker, Sumith R; Ombrello, Amanda K; Reichard, Kaaren K; Darden, Ivana; Goodspeed, Wendy; Durrani, Jibran; Wilson, Lorena; Olteanu, Horatiu; Lasho, Terra L; Kastner, Daniel L; Warrington, Kenneth J; Mangaonkar, Abhishek A; Go, Ronald S; Braylan, Raul C; Beck, David B; Patnaik, Mrinal M; Young, Neal S; Calvo, Katherine R; Casanegra, Ana; Grayson, Peter C; Koster, Matthew J; Wu, Colin O; Kanthi, Yogendra; Patel, Bhavisha A; Houghton, Damon E; Groarke, Emma M

Blood. 2024 Feb 02;

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Center for Human Genetics & Genomics Publications | NYU Langone Health