Sosnay, Patrick - Johns Hopkins University

个人简介

Dr. Patrick Sosnay is an Assistant Professor of Medicine in the Pulmonary and Critical Care Medicine Department. He studies translational cystic fibrosis research and genotype-phenotype relationships in cystic fibrosis patients. Dr. Sosnay holds bachelor’s and master’s degrees from the University of Wisconsin. He completed a fellowship at the Johns Hopkins University School of Medicine before joining the Johns Hopkins faculty in 2008. MD, University of Wisconsin Medical School (2000)

研究领域

Genotype-phenotype relationships in cystic fibrosis patients; Translational cystic fibrosis research

近期论文

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Sosnay PR, Cutting GR. Thorax. 2014 Mar;69(3):295-7. doi: 10.1136/thoraxjnl-2013-204903. Epub 2013 Dec 16. PMID: 24343785 Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. PMID: 23974870 Masica DL, Sosnay PR, Cutting GR, Karchin R. Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis. Hum Mutat. 2012 Aug;33(8):1267-74. doi: 10.1002/humu.22110. Epub 2012 May 22. PMID: 22573477 Cole KH, Sosnay PR, Yarmus LB, Zuckerman JB. The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis. Case Rep Med. 2011;2011:903910. doi: 10.1155/2011/903910. Epub 2011 Dec 13. PMID: 22194755 Sosnay PR, Castellani C, Corey M, Dorfman R, Zielenski J, Karchin R, Penland CM, Cutting GR. Evaluation of the disease liability of CFTR variants. Methods Mol Biol. 2011;742:355-72. doi: 10.1007/978-1-61779-120-8_21. PMID: 21547743