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

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

The Journal of clinical investigation. 2025 Apr 17;

The common HAQ STING allele prevents clinical penetrance of COPA syndrome

Simchoni, Noa; Koide, Shogo; Likhite, Maryel; Kuchitsu, Yoshihiko; Kadirvel, Senkottuvelan; Law, Christopher S; Elicker, Brett M; Kurra, Santosh; Wong, Margaret Mei-Kay; Yuan, Bo; Grossi, Alice; Laxer, Ronald M; Volpi, Stefano; Dissanayake, Dilan; Taguchi, Tomohiko; Beck, David B; Vogel, Tiphanie P; Shum, Anthony K

Journal of experimental medicine. 2025 Apr 07; 222:

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 (Hoboken, N.J.). 2025 Apr 04;

Fork-barrier-independent roles of topoisomerase I in the ribosomal DNA

Molinar, Temistocles; Sultanov, Daniel; Klein, Hannah; Hochwagen, Andreas

Genetics. 2025 Mar 22;

Direct measurement of the male germline mutation rate in individuals using sequential sperm samples

Shoag, Jonathan E; Srinivasa, Amoolya; Loh, Caitlin A; Liu, Mei Hong; Lassen, Emilie; Melanaphy, Shana; Costa, Benjamin M; Grońska-Pęski, Marta; Jabara, Nisrine T; Picciotto, Shany; Choi, Una; Bohorquez, Anyull D; Barbieri, Christopher E; Callum, Pamela; Skytte, Anne-Bine; Evrony, Gilad D

Nature communications. 2025 Mar 15; 16:2546

Ultra-rapid droplet digital PCR enables intraoperative tumor quantification

Murphy, Zachary R; Bianchini, Emilia C; Smith, Andrew; Körner, Lisa I; Russell, Teresa; Reinecke, David; Maarouf, Nader; Wang, Yuxiu; Golfinos, John G; Miller, Alexandra M; Snuderl, Matija; Orringer, Daniel A; Evrony, Gilad D

Med (New York, N.Y.). 2025 Feb 25; 100604

Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants

Fries, Lauren E; Dharma, Sree; Chakravarti, Aravinda; Chatterjee, Sumantra

American journal of human genetics. 2025 Feb 19;

Germline UBA1 Variant With Somatic Amplification in a Woman With Inflammatory Diseases and Myelodysplastic Syndrome

Creignou, Maria; Sirenko, Maria; Moura, Pedro L; Mortera-Blanco, Teresa; Dimitriou, Marios; Sander, Birgitta; Domenico, Dylan; Arango Ossa, Juan E; Tesi, Bianca; Beck, David B; Woll, Petter; Jacobsen, Sten-Eirik W; Papaemmanuil, Elli; Bernard, Elsa; Hellström-Lindberg, Eva

Annals of internal medicine. 2025 Feb ; 178:300-304

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Center for Human Genetics & Genomics Publications | NYU Langone Health