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Page 1
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD. Page DJ, et al. Among authors: keavney bd. Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250. Circ Res. 2019. PMID: 30582441 Free PMC article.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FVY, Walsh R, El Bouchikhi I, Breckpot J, Audain E, Ilgun A, Beekman L, Ratbi I, Strong A, Muenke M, Heide S, Muir AM, Hababa M, Cross L, Zhou D, Pastinen T; German Competence Network for Congenital Heart Defects; Zackai E, Atmani S, Ouldim K, Adadi N, Steindl K, Rauch A, Brook D, Wilsdon A, Kuipers I, Blom NA, Mulder BJ, Mefford HC, Keren B, Joset P, Kruszka P, Thiffault I, Sheppard SE, Roberts A, Lodder EM, Keavney BD, Clur SB, Mital S, Hitz MP, Christoffels VM, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: keavney bd. Genet Med. 2021 Oct;23(10):1952-1960. doi: 10.1038/s41436-021-01212-y. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113005 Free PMC article.
Functionally significant, rare transcription factor variants in tetralogy of Fallot.
Töpf A, Griffin HR, Glen E, Soemedi R, Brown DL, Hall D, Rahman TJ, Eloranta JJ, Jüngst C, Stuart AG, O'Sullivan J, Keavney BD, Goodship JA. Töpf A, et al. Among authors: keavney bd. PLoS One. 2014 Aug 5;9(8):e95453. doi: 10.1371/journal.pone.0095453. eCollection 2014. PLoS One. 2014. PMID: 25093829 Free PMC article.
Congenital heart disease risk loci identified by genome-wide association study in European patients.
Lahm H, Jia M, Dreßen M, Wirth F, Puluca N, Gilsbach R, Keavney BD, Cleuziou J, Beck N, Bondareva O, Dzilic E, Burri M, König KC, Ziegelmüller JA, Abou-Ajram C, Neb I, Zhang Z, Doppler SA, Mastantuono E, Lichtner P, Eckstein G, Hörer J, Ewert P, Priest JR, Hein L, Lange R, Meitinger T, Cordell HJ, Müller-Myhsok B, Krane M. Lahm H, et al. Among authors: keavney bd. J Clin Invest. 2021 Jan 19;131(2):e141837. doi: 10.1172/JCI141837. J Clin Invest. 2021. PMID: 33201861 Free PMC article. Clinical Trial.
The Open Science of Atrial Fibrillation.
Keavney BD, McGurk KA. Keavney BD, et al. Circ Res. 2020 Jan 17;126(2):210-211. doi: 10.1161/CIRCRESAHA.119.316357. Epub 2020 Jan 16. Circ Res. 2020. PMID: 31944917 No abstract available.
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.
Yang B, Zhou W, Jiao J, Nielsen JB, Mathis MR, Heydarpour M, Lettre G, Folkersen L, Prakash S, Schurmann C, Fritsche L, Farnum GA, Lin M, Othman M, Hornsby W, Driscoll A, Levasseur A, Thomas M, Farhat L, Dubé MP, Isselbacher EM, Franco-Cereceda A, Guo DC, Bottinger EP, Deeb GM, Booher A, Kheterpal S, Chen YE, Kang HM, Kitzman J, Cordell HJ, Keavney BD, Goodship JA, Ganesh SK, Abecasis G, Eagle KA, Boyle AP, Loos RJF, Eriksson P, Tardif JC, Brummett CM, Milewicz DM, Body SC, Willer CJ. Yang B, et al. Among authors: keavney bd. Nat Commun. 2017 May 25;8:15481. doi: 10.1038/ncomms15481. Nat Commun. 2017. PMID: 28541271 Free PMC article.
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.
Reuter MS, Chaturvedi RR, Jobling RK, Pellecchia G, Hamdan O, Sung WWL, Nalpathamkalam T, Attaluri P, Silversides CK, Wald RM, Marshall CR, Williams SG, Keavney BD, Thiruvahindrapuram B, Scherer SW, Bassett AS. Reuter MS, et al. Among authors: keavney bd. Circ Genom Precis Med. 2021 Aug;14(4):e003410. doi: 10.1161/CIRCGEN.121.003410. Epub 2021 Jul 30. Circ Genom Precis Med. 2021. PMID: 34328347 Free PMC article. Clinical Trial.
84 results