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Year Number of Results
2017 4
2018 5
2019 1
2020 3
2021 5
2022 1
2023 3
2024 0

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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: kotta mc. 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.
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F, Sala L, Aiba T, Ayers MD, Baban A, Barc J, Beach CM, Behr ER, Bos JM, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge SP, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen HK, Kannankeril PJ, Kaski JP, Makita N, Muñoz-Esparza C, Odland HH, Ohno S, Papagiannis J, Porretta AP, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert KE, Vinocur JM, Webster G, Wilde AAM, Wolf CM, Ackerman MJ, Schwartz PJ. Crotti L, et al. Among authors: kotta mc. Eur Heart J. 2023 Sep 14;44(35):3357-3370. doi: 10.1093/eurheartj/ehad418. Eur Heart J. 2023. PMID: 37528649 Free PMC article.
Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.
O'Neill MJ, Sala L, Denjoy I, Wada Y, Kozek K, Crotti L, Dagradi F, Kotta MC, Spazzolini C, Leenhardt A, Salem JE, Kashiwa A, Ohno S, Tao R, Roden DM, Horie M, Extramiana F, Schwartz PJ, Kroncke BM. O'Neill MJ, et al. Among authors: kotta mc. Genet Med. 2023 Mar;25(3):100355. doi: 10.1016/j.gim.2022.12.002. Epub 2022 Dec 7. Genet Med. 2023. PMID: 36496179 Free PMC article.
19 results