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75,885 results

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Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy.
De Jong HN, Dewey FE, Cordero P, Victorio RA, Kirillova A, Huang Y, Madhvani R, Seo K, Werdich AA, Lan F, Orcholski M, Liu WR, Erbilgin A, Wheeler MT, Chen R, Pan S, Kim YM, Bommakanti K, Marcou CA, Bos JM, Haddad F, Ackerman M, Vasan RS, MacRae C, Wu JC, de Jesus Perez V, Snyder M, Parikh VN, Ashley EA. De Jong HN, et al. Among authors: huang y. Circ Genom Precis Med. 2022 Aug;15(4):e003563. doi: 10.1161/CIRCGEN.121.003563. Epub 2022 Jun 7. Circ Genom Precis Med. 2022. PMID: 35671065 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.
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.
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.
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
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327508 Free PMC article.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network; McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. Accogli A, et al. Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005. Am J Hum Genet. 2019. PMID: 31585109 Free PMC article.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 Free PMC article.
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