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

Novel genetic mutation in myositis-variant of VEXAS syndrome

Topilow, James S; Ospina Cardona, Daniela; Beck, David B; Ferrada, Marcela A; McMahan, Zsuzsanna H; Paik, Julie J

Rheumatology (Oxford). 2022 Nov 28; 61:e371-e373

Serial enrichment of heteroduplex DNA using a MutS-magnetic bead system

Murphy, Zachary R; Shields, Danielle A; Evrony, Gilad D

Biotechnology journal. 2022 Nov 01; e2200323

Notes from the Field: VEXAS Syndrome and Disease Taxonomy in Rheumatology

Grayson, Peter C; Beck, David B; Ferrada, Marcela A; Nigrovic, Peter A; Kastner, Daniel L

Arthritis & rheumatology. 2022 Nov ; 74:1733-1736

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; FernÃ¡ndez-JaÃ©n, Alberto; Alvarez, Sara; GarcÃa-Prieto, Irene DÃez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; RodrÃguez, NicolÃ¡s; SÃ¡nchez-MartÃnez, Rosario; Tenorio-CastaÃ±o, Jair; Nevado, JuliÃ¡n; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

American journal of human genetics. 2022 Oct 06; 109:1867-1884

Gain-of-function mutations in ALPK1 cause an NF-ÎºB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Marie; Heller, Theo; Cowen, Edward W; Lee, Chyi-Chia Richard; Toro, Camilo; Kalsi, Shelley; Khavandgar, Zohreh; Baer, Alan; Beach, Margaret; Long Priel, Debra; Nehrebecky, Michele; Rosenzweig, Sofia; Romeo, Tina; Deuitch, Natalie; Brenchley, Laurie; Pelayo, Eileen; Zein, Wadih; Sen, Nida; Yang, Alexander H; Farley, Gary; Sweetser, David A; Briere, Lauren; Yang, Janine; de Oliveira Poswar, Fabiano; Schwartz, Ida; Silva Alves, Tamires; Dusser, Perrine; Koné-Paut, Isabelle; Touitou, Isabelle; Titah, Salah Mohamed; van Hagen, Petrus Martin; van Wijck, Rogier T A; van der Spek, Peter J; Yano, Hiromi; Benneche, Andreas; Apalset, Ellen M; Jansson, Ragnhild Wivestad; Caspi, Rachel R; Kuhns, Douglas Byron; Gadina, Massimo; Takada, Hidetoshi; Ida, Hiroaki; Nishikomori, Ryuta; Verrecchia, Elena; Sangiorgi, Eugenio; Manna, Raffaele; Brooks, Brian P; Sobrin, Lucia; Hufnagel, Robert; Beck, David; Shao, Feng; Ombrello, Amanda K; Aksentijevich, Ivona; Kastner, Daniel L

Annals of the rheumatic diseases. 2022 Oct ; 81:1453-1464

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis

Ferrada, Marcela A; Savic, Sinisa; Ospina Cardona, Daniela; Collins, Jason Charles; Alessi, Hugh; Gutierrez-Rodrigues, Fernanda; Uthaya Kumar, Dinesh Babu; Wilson, Lorena; Goodspeed, Wendy; Topilow, James S; Paik, Julie J; Poulter, James A; Kermani, Tanaz A; Koster, Matthew J; Warrington, Kenneth; Cargo, Catherine A; Tattersall, Rachel S; Duncan, Christopher Ja; Cantor, Anna; Hoffmann, Patrycja; Payne, Elspeth M; Bonnekoh, Hanna; Krause, Karoline; Cowen, Edward W; Calvo, Katherine R; Patel, Bhavisha A; Ombrello, Amanda K; Kastner, Daniel L; Young, Neal S; Werner, Achim; Grayson, Peter C; Beck, David B

Blood. 2022 Sep 29; 140:1496-1506

Disorders of ubiquitylation: unchained inflammation

Beck, David B; Werner, Achim; Kastner, Daniel L; Aksentijevich, Ivona

Nature reviews. Rheumatology. 2022 Aug ; 18:435-447

Ribodysgenesis: sudden genome instability in the yeast Saccharomyces cerevisiae arising from RNase H2 cleavage at genomic-embedded ribonucleotides

Sui, Yang; Epstein, Anastasiya; Dominska, Margaret; Zheng, Dao-Qiong; Petes, Thomas D; Klein, Hannah L

Nucleic acids research. 2022 Jun 24; 50:6890-902

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Center for Human Genetics & Genomics Publications | NYU Langone Health