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Page 1
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: dagradi f. 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.
Congenital long QT syndrome.
Crotti L, Celano G, Dagradi F, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Orphanet J Rare Dis. 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18. Orphanet J Rare Dis. 2008. PMID: 18606002 Free PMC article. Review.
Gene symbol: KCNH2. Disease: Long QT syndrome.
Crotti L, Crotti L, Pedrazzini M, Insolia R, Ferrandi C, Cuoretti A, Gandolfi E, Celano G, Dagradi F, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):540. Hum Genet. 2008. PMID: 20960613 No abstract available.
Gene symbol: KCNQ1. Disease: Long QT syndrome.
Crotti L, Insolia R, Ferrandi C, Pedrazzini M, Cuoretti A, Gandolfi E, Sanzo A, Dagradi F, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):541. Hum Genet. 2008. PMID: 20960614 No abstract available.
Gene symbol: KCNH2. Disease: Long QT syndrome.
Crotti L, Pedrazzini M, Insolia R, Ferrandi C, Cuoretti A, Celano G, Gandolfi E, Dagradi F, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):541. Hum Genet. 2008. PMID: 20960616 Free article. No abstract available.
Gene symbol: SCN5A. Disease: Brugada syndrome.
Crotti L, Ferrandi C, Pedrazzini M, Insolia R, Cuoretti A, Sanzo A, Dagradi F, De Ferrari GM, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):542. Hum Genet. 2008. PMID: 20960617 No abstract available.
Gene symbol: SCN5A. Disease: Brugada syndrome.
Crotti L, Pedrazzini M, Insolia R, Ferrandi C, Ghidoni A, Sanzo A, Dagradi F, De Ferrari GM, Swartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):542. Hum Genet. 2008. PMID: 20960618 No abstract available.
Gene symbol: KCNQ1. Disease: Long QT syndrome.
Crotti L, Ferrandi C, Pedrazzini M, Insolia R, Cuoretti A, Celano G, Dagradi F, Stramba-Badiale M, Schwartz PJ. Crotti L, et al. Among authors: dagradi f. Hum Genet. 2008 Jun;123(5):543. Hum Genet. 2008. PMID: 20960619 No abstract available.
61 results