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Page 1
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Tabansky I, Tanaka AJ, Wang J, Zhang G, Dujmovic I, Mader S, Jeganathan V, DeAngelis T, Funaro M, Harel A, Messina M, Shabbir M, Nursey V, DeGouvia W, Laurent M, Blitz K, Jindra P, Gudesblatt M; Regeneron Genetics Center; King A, Drulovic J, Yunis E, Brusic V, Shen Y, Keskin DB, Najjar S, Stern JNH. Tabansky I, et al. Among authors: shen y. Front Immunol. 2022 Oct 4;13:900605. doi: 10.3389/fimmu.2022.900605. eCollection 2022. Front Immunol. 2022. PMID: 36268024 Free PMC article.
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
Zhu N, Welch CL, Wang J, Allen PM, Gonzaga-Jauregui C, Ma L, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Pauciulo MW, Lutz KA, Nichols WC, Reid JG, Overton JD, Baras A, Dewey FE, Shen Y, Chung WK. Zhu N, et al. Among authors: shen y. Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x. Genome Med. 2018. PMID: 30029678 Free PMC article.
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.
Zhu N, Gonzaga-Jauregui C, Welch CL, Ma L, Qi H, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Nichols WC, Pauciulo MW, Lutz KA, Sawle A, Reid JG, Overton JD, Baras A, Dewey F, Shen Y, Chung WK. Zhu N, et al. Among authors: shen y. Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887. Circ Genom Precis Med. 2018. PMID: 29631995 Free PMC article.
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. Berko ER, et al. Among authors: shen y. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7. J Med Genet. 2017. PMID: 27389779 Free PMC article.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK. Ganapathi M, et al. Among authors: shen y. Am J Hum Genet. 2019 Feb 7;104(2):287-298. doi: 10.1016/j.ajhg.2018.12.017. Epub 2019 Jan 17. Am J Hum Genet. 2019. PMID: 30661771 Free PMC article.
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.
Correction to: 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 Jun 22;13(1):106. doi: 10.1186/s13073-021-00915-w. Genome Med. 2021. PMID: 34158098 Free PMC article. No abstract available.
Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.
Zhu N, Pauciulo MW, Welch CL, Lutz KA, Coleman AW, Gonzaga-Jauregui C, Wang J, Grimes JM, Martin LJ, He H; PAH Biobank Enrolling Centers’ Investigators; Shen Y, Chung WK, Nichols WC. Zhu N, et al. Among authors: shen y. Genome Med. 2022 Feb 7;14(1):12. doi: 10.1186/s13073-022-01014-0. Genome Med. 2022. PMID: 35130931 Free PMC article. No abstract available.
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