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Page 1
Clinical features and outcomes in carriers of pathogenic desmoplakin variants.
Gasperetti A, Carrick RT, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Lekanne RH, Syrris P, Cannie D, Tichnell C, Cappelletto C, Gigli M, Medo K, Saguner AM, Duru F, Gilotra NA, Zimmerman S, Hylind R, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Dittmann S, Schulze-Bahr E, Qureshi M, Young K, Carruth ED, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott PM, Calkins H, James CA. Gasperetti A, et al. Among authors: carruth ed. Eur Heart J. 2024 Sep 17:ehae571. doi: 10.1093/eurheartj/ehae571. Online ahead of print. Eur Heart J. 2024. PMID: 39288222
A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.
Carrick RT, Gasperetti A, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Dooijes D, Syrris P, Cannie D, Tichnell C, Gilotra NA, Cappelletto C, Medo K, Saguner AM, Duru F, Hylind RJ, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Compagnucci P, Casella M, Conte G, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Schulze-Bahr E, Dittman S, Carruth ED, Young K, Qureshi M, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott P, Calkins H, Wu KC, James CA. Carrick RT, et al. Among authors: carruth ed. Eur Heart J. 2024 Aug 21;45(32):2968-2979. doi: 10.1093/eurheartj/ehae409. Eur Heart J. 2024. PMID: 39011630 Free PMC article.
Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.
Carruth ED, Qureshi M, Alsaid A, Kelly MA, Calkins H, Murray B, Tichnell C, Sturm AC; Regeneron Genetics Center; Baras A, Lester Kirchner H, Fornwalt BK, James CA, Haggerty CM. Carruth ED, et al. Circ Genom Precis Med. 2022 Aug;15(4):e003645. doi: 10.1161/CIRCGEN.121.003645. Epub 2022 Jun 14. Circ Genom Precis Med. 2022. PMID: 35699965 Free PMC article.
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants.
Carruth ED, Beer D, Alsaid A, Schwartz MLB, McMinn M, Kelly MA, Buchanan AH, Nevius CD, Calkins H, James CA, Murray B, Tichnell C, Matsumura ME, Kirchner HL, Fornwalt BK, Sturm AC, Haggerty CM. Carruth ED, et al. Circ Genom Precis Med. 2021 Apr;14(2):e003302. doi: 10.1161/CIRCGEN.120.003302. Epub 2021 Mar 8. Circ Genom Precis Med. 2021. PMID: 33684294 Free PMC article.
Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.
Carruth ED, Young W, Beer D, James CA, Calkins H, Jing L, Raghunath S, Hartzel DN, Leader JB, Kirchner HL, Smelser DT, Carey DJ, Kelly MA, Sturm AC, Alsaid A, Fornwalt BK, Haggerty CM. Carruth ED, et al. Circ Genom Precis Med. 2019 Nov;12(11):e002579. doi: 10.1161/CIRCGEN.119.002579. Epub 2019 Oct 22. Circ Genom Precis Med. 2019. PMID: 31638835 Free PMC article.
13 results