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Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.
Cordero P, Parikh VN, Chin ET, Erbilgin A, Gloudemans MJ, Shang C, Huang Y, Chang AC, Smith KS, Dewey F, Zaleta K, Morley M, Brandimarto J, Glazer N, Waggott D, Pavlovic A, Zhao M, Moravec CS, Tang WHW, Skreen J, Malloy C, Hannenhalli S, Li H, Ritter S, Li M, Bernstein D, Connolly A, Hakonarson H, Lusis AJ, Margulies KB, Depaoli-Roach AA, Montgomery SB, Wheeler MT, Cappola T, Ashley EA. Cordero P, et al. Among authors: huang y. Nat Commun. 2019 Jun 24;10(1):2760. doi: 10.1038/s41467-019-10591-5. Nat Commun. 2019. PMID: 31235787 Free PMC article.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM; Undiagnosed Diseases Network; Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Oláhová M, et al. Among authors: huang y. Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22. Am J Hum Genet. 2018. PMID: 29478781 Free PMC article.
Apelin and APJ orchestrate complex tissue-specific control of cardiomyocyte hypertrophy and contractility in the hypertrophy-heart failure transition.
Parikh VN, Liu J, Shang C, Woods C, Chang AC, Zhao M, Charo DN, Grunwald Z, Huang Y, Seo K, Tsao PS, Bernstein D, Ruiz-Lozano P, Quertermous T, Ashley EA. Parikh VN, et al. Among authors: huang y. Am J Physiol Heart Circ Physiol. 2018 Aug 1;315(2):H348-H356. doi: 10.1152/ajpheart.00693.2017. Epub 2018 May 18. Am J Physiol Heart Circ Physiol. 2018. PMID: 29775410 Free PMC article.
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y; Undiagnosed Diseases Network; Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA. Kumar A, et al. Among authors: huang y. Am J Med Genet A. 2019 Jun;179(6):966-977. doi: 10.1002/ajmg.a.61134. Epub 2019 Mar 28. Am J Med Genet A. 2019. PMID: 30920161 Free PMC article. Review.
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network. Newman JH, et al. Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16. Mol Genet Genomic Med. 2019. PMID: 30993913 Free PMC article.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
Allele-Specific Silencing Ameliorates Restrictive Cardiomyopathy Attributable to a Human Myosin Regulatory Light Chain Mutation.
Zaleta-Rivera K, Dainis A, Ribeiro AJS, Cordero P, Rubio G, Shang C, Liu J, Finsterbach T, Parikh VN, Sutton S, Seo K, Sinha N, Jain N, Huang Y, Hajjar RJ, Kay MA, Szczesna-Cordary D, Pruitt BL, Wheeler MT, Ashley EA. Zaleta-Rivera K, et al. Among authors: huang y. Circulation. 2019 Aug 27;140(9):765-778. doi: 10.1161/CIRCULATIONAHA.118.036965. Epub 2019 Jul 18. Circulation. 2019. PMID: 31315475
Genomics in medicine: a novel elective rotation for internal medicine residents.
Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network; Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M. Geng LN, et al. Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22. Postgrad Med J. 2019. PMID: 31439813
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