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Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant　- Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping.
Van Malderen SCH, Daneels D, Kerkhove D, Peeters U, Theuns DAMJ, Droogmans S, Van Camp G, Weytjens C, Biervliet M, Bonduelle M, Van Dooren S, Brugada P. Van Malderen SCH, et al. Circ J. 2017 Dec 25;82(1):53-61. doi: 10.1253/circj.CJ-16-1279. Epub 2017 Aug 4. Circ J. 2017. PMID: 28781330 Free article.
High-Throughput Reclassification of SCN5A Variants.
Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM. Glazer AM, et al. Am J Hum Genet. 2020 Jul 2;107(1):111-123. doi: 10.1016/j.ajhg.2020.05.015. Epub 2020 Jun 12. Am J Hum Genet. 2020. PMID: 32533946 Free PMC article.
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.
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Koh HY, Haghighi A, Keywan C, Alexandrescu S, Plews-Ogan E, Haas EA, Brownstein CA, Vargas SO, Haynes RL, Berry GT, Holm IA, Poduri AH, Goldstein RD. Koh HY, et al. Genet Med. 2022 Apr;24(4):839-850. doi: 10.1016/j.gim.2021.12.004. Epub 2022 Jan 10. Genet Med. 2022. PMID: 35027292 Free PMC article.
Genetic testing in children with Brugada syndrome: results from a large prospective registry.
Pannone L, Bisignani A, Osei R, Gauthey A, Sorgente A, Vergara P, Monaco C, Della Rocca DG, Del Monte A, Strazdas A, Mojica J, Al Housari M, Miraglia V, Mouram S, Paparella G, Ramak R, Overeinder I, Bala G, Almorad A, Ströker E, Pappaert G, Sieira J, de Ravel T, La Meir M, Brugada P, Chierchia GB, Van Dooren S, de Asmundis C. Pannone L, et al. Europace. 2023 May 19;25(5):euad079. doi: 10.1093/europace/euad079. Europace. 2023. PMID: 37061847 Free PMC article.