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Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher JC, Gourraud JB, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L. Baurand A, et al. Among authors: laurent g. Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21. Am J Med Genet A. 2017. PMID: 27868338 Review.
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
Laurent G, Saal S, Amarouch MY, Béziau DM, Marsman RF, Faivre L, Barc J, Dina C, Bertaux G, Barthez O, Thauvin-Robinet C, Charron P, Fressart V, Maltret A, Villain E, Baron E, Mérot J, Turpault R, Coudière Y, Charpentier F, Schott JJ, Loussouarn G, Wilde AA, Wolf JE, Baró I, Kyndt F, Probst V. Laurent G, et al. J Am Coll Cardiol. 2012 Jul 10;60(2):144-56. doi: 10.1016/j.jacc.2012.02.052. J Am Coll Cardiol. 2012. PMID: 22766342 Free article.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P. Thevenon J, et al. Among authors: laurent g. Europace. 2017 Apr 1;19(4):651-659. doi: 10.1093/europace/euw067. Europace. 2017. PMID: 28431061
Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).
Podliesna S, Delanne J, Miller L, Tester DJ, Uzunyan M, Yano S, Klerk M, Cannon BC, Khongphatthanayothin A, Laurent G, Bertaux G, Falcon-Eicher S, Wu S, Yen HY, Gao H, Wilde AAM, Faivre L, Ackerman MJ, Lodder EM, Bezzina CR. Podliesna S, et al. Among authors: laurent g. Heart Rhythm. 2019 Jan;16(1):98-105. doi: 10.1016/j.hrthm.2018.07.015. Epub 2018 Aug 17. Heart Rhythm. 2019. PMID: 30010057
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 DF, Acke… See abstract for full author list ➔ Walsh R, et al. 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.
1,117 results