Center for Human Genetics & Genomics Publications | NYU Langone Health

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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

Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes

Sirenko, Maria; Bernard, Elsa; Creignou, Maria; Domenico, Dylan; Farina, Andrea; Arango Ossa, Juan E; Kosmider, Olivier; Hasserjian, Robert; Jädersten, Martin; Germing, Ulrich; Sanz, Guillermo; van de Loosdrecht, Arjan A; Gurnari, Carmelo; Follo, Matilde Yung; Thol, Felicitas; Zamora, Lurdes; Pinheiro, Ronald Feitosa; Pellagatti, Andrea; Elias, Harold K; Haase, Detlef; Sander, Birgitta; Orna, Elisa; Zoldan, Katharina; Eder, Lea Naomi; Sperr, Wolfgang R; Thalhammer, Renate; Ganster, Christina; Adès, Lionel; Tobiasson, Magnus; Palomo, Laura; Della Porta, Matteo Giovanni; Huberman, Kety; Fenaux, Pierre; Belickova, Monika; Savona, Michael R; Klimek, Virginia M; Santos, Fabio P S; Boultwood, Jacqueline; Kotsianidis, Ioannis; Santini, Valeria; Solé, Francesc; Platzbecker, Uwe; Heuser, Michael; Valent, Peter; Finelli, Carlo; Voso, Maria Teresa; Shih, Lee-Yung; Ogawa, Seishi; Fontenay, Michaela; Jansen, Joop H; Cervera, Jose; Ebert, Benjamin L; Bejar, Rafael; Greenberg, Peter L; Gattermann, Norbert; Malcovati, Luca; Cazzola, Mario; Beck, David B; Hellström-Lindberg, Eva; Papaemmanuil, Elli

Blood. 2024 Sep 12; 144:1221-1229

High-fidelity, large-scale targeted profiling of microsatellites

Loh, Caitlin A; Shields, Danielle A; Schwing, Adam; Evrony, Gilad D

Genome research. 2024 Aug 20; 34:1008-1026

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 Aug 01; 160:822-829

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. 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

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

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; Grońska-Pęski, Marta; Schwing, Adam; Murphy, Zachary R; Rosenkjær, 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 ; 630:752-761

Ultra-Rapid Droplet Digital PCR Enables Intraoperative Tumor Quantification

Murphy, Zachary R; Bianchini, Emilia C; Smith, Andrew; Körner, 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;

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 May 23; 143:2190-2200