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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, Guo Y, Karten J, Pandya D, Tilly T, Lutz KA, Martin JM, Treacy CM, Rosenzweig EB, Krishnan U, Coleman AW, Gonzaga-Jauregui C, Lawrie A, Trembath RC, Wilkins MR; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Morrell NW, Shen Y, Gräf S, Nichols WC, Chung WK. Zhu N, et al. Among authors: chung wk. Genome Med. 2021 May 10;13(1):80. doi: 10.1186/s13073-021-00891-1. Genome Med. 2021. PMID: 33971972 Free PMC article.
Genetics and genomics of pulmonary arterial hypertension.
Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA 3rd, Soubrier F, Trembath RC, Chung WK. Machado RD, et al. Among authors: chung wk. J Am Coll Cardiol. 2009 Jun 30;54(1 Suppl):S32-S42. doi: 10.1016/j.jacc.2009.04.015. J Am Coll Cardiol. 2009. PMID: 19555857 Free PMC article. Review.
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.
Austin ED, Ma L, LeDuc C, Berman Rosenzweig E, Borczuk A, Phillips JA 3rd, Palomero T, Sumazin P, Kim HR, Talati MH, West J, Loyd JE, Chung WK. Austin ED, et al. Among authors: chung wk. Circ Cardiovasc Genet. 2012 Jun;5(3):336-43. doi: 10.1161/CIRCGENETICS.111.961888. Epub 2012 Apr 2. Circ Cardiovasc Genet. 2012. PMID: 22474227 Free PMC article.
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia.
Yu L, Wynn J, Cheung YH, Shen Y, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, Stolar C, Aspelund G, Arkovitz MS, Chung WK. Yu L, et al. Among authors: chung dh, chung wk. Hum Genet. 2013 Mar;132(3):285-92. doi: 10.1007/s00439-012-1249-0. Epub 2012 Nov 9. Hum Genet. 2013. PMID: 23138528 Free PMC article.
Outcomes of congenital diaphragmatic hernia in the modern era of management.
Wynn J, Krishnan U, Aspelund G, Zhang Y, Duong J, Stolar CJ, Hahn E, Pietsch J, Chung D, Moore D, Austin E, Mychaliska G, Gajarski R, Foong YL, Michelfelder E, Potolka D, Bucher B, Warner B, Grady M, Azarow K, Fletcher SE, Kutty S, Delaney J, Crombleholme T, Rosenzweig E, Chung W, Arkovitz MS. Wynn J, et al. J Pediatr. 2013 Jul;163(1):114-9.e1. doi: 10.1016/j.jpeds.2012.12.036. Epub 2013 Jan 30. J Pediatr. 2013. PMID: 23375362 Free PMC article.
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
Germain M, Eyries M, Montani D, Poirier O, Girerd B, Dorfmüller P, Coulet F, Nadaud S, Maugenre S, Guignabert C, Carpentier W, Vonk-Noordegraaf A, Lévy M, Chaouat A, Lambert JC, Bertrand M, Dupuy AM, Letenneur L, Lathrop M, Amouyel P, de Ravel TJ, Delcroix M, Austin ED, Robbins IM, Hemnes AR, Loyd JE, Berman-Rosenzweig E, Barst RJ, Chung WK, Simonneau G, Trégouët DA, Humbert M, Soubrier F. Germain M, et al. Among authors: chung wk. Nat Genet. 2013 May;45(5):518-21. doi: 10.1038/ng.2581. Epub 2013 Mar 17. Nat Genet. 2013. PMID: 23502781 Free PMC article.
A novel channelopathy in pulmonary arterial hypertension.
Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Trégouët DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK. Ma L, et al. Among authors: chung wk. N Engl J Med. 2013 Jul 25;369(4):351-361. doi: 10.1056/NEJMoa1211097. N Engl J Med. 2013. PMID: 23883380 Free PMC article.
1,072 results