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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: shen y. Genome Med. 2021 May 10;13(1):80. doi: 10.1186/s13073-021-00891-1. Genome Med. 2021. PMID: 33971972 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: shen y. 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.
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS; University of Washington Center for Mendelian Genomics; Mefford H, Chung WK. Yu L, et al. Among authors: shen y. J Med Genet. 2014 Mar;51(3):197-202. doi: 10.1136/jmedgenet-2013-101989. Epub 2014 Jan 2. J Med Genet. 2014. PMID: 24385578 Free PMC article.
CANOES: detecting rare copy number variants from whole exome sequencing data.
Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK, Shen Y. Backenroth D, et al. Among authors: shen y. Nucleic Acids Res. 2014 Jul;42(12):e97. doi: 10.1093/nar/gku345. Epub 2014 Apr 25. Nucleic Acids Res. 2014. PMID: 24771342 Free PMC article.
Loss of RNA expression and allele-specific expression associated with congenital heart disease.
McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp AJ, Seidman CE, Gelb BD, Seidman JG. McKean DM, et al. Among authors: shen y. Nat Commun. 2016 Sep 27;7:12824. doi: 10.1038/ncomms12824. Nat Commun. 2016. PMID: 27670201 Free PMC article.
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