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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino D… See abstract for full author list ➔ Walsh R, et al. Among authors: corveleyn a. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.
Robyns T, Nuyens D, Van Casteren L, Corveleyn A, De Ravel T, Heidbuchel H, Willems R. Robyns T, et al. Among authors: corveleyn a. Indian Pacing Electrophysiol J. 2014 May 25;14(3):133-49. doi: 10.1016/s0972-6292(16)30754-9. eCollection 2014 May. Indian Pacing Electrophysiol J. 2014. PMID: 24948852 Free PMC article.
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.
Nijak A, Alaerts M, Kuiperi C, Corveleyn A, Suys B, Paelinck B, Saenen J, Van Craenenbroeck E, Van Laer L, Loeys B, Verstraeten A. Nijak A, et al. Among authors: corveleyn a. Eur J Med Genet. 2018 Jan;61(1):8-10. doi: 10.1016/j.ejmg.2017.10.003. Epub 2017 Oct 9. Eur J Med Genet. 2018. PMID: 29024827
BCAP31-related syndrome: The first de novo report.
Rinaldi B, Van Hoof E, Corveleyn A, Van Cauter A, de Ravel T. Rinaldi B, et al. Among authors: corveleyn a. Eur J Med Genet. 2020 Feb;63(2):103732. doi: 10.1016/j.ejmg.2019.103732. Epub 2019 Jul 19. Eur J Med Genet. 2020. PMID: 31330203
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