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Page 1
The genetic architecture of Plakophilin 2 cardiomyopathy.
Dries AM, Kirillova A, Reuter CM, Garcia J, Zouk H, Hawley M, Murray B, Tichnell C, Pilichou K, Protonotarios A, Medeiros-Domingo A, Kelly MA, Baras A, Ingles J, Semsarian C, Bauce B, Celeghin R, Basso C, Jongbloed JDH, Nussbaum RL, Funke B, Cerrone M, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Saguner AM, Elliott PM, Syrris P, van Tintelen JP; Regeneron Genetics Center; James CA, Haggerty CM, Parikh VN. Dries AM, et al. Genet Med. 2021 Oct;23(10):1961-1968. doi: 10.1038/s41436-021-01233-7. Epub 2021 Jun 12. Genet Med. 2021. PMID: 34120153 Free PMC article.
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.
Choi SH, Jurgens SJ, Haggerty CM, Hall AW, Halford JL, Morrill VN, Weng LC, Lagerman B, Mirshahi T, Pettinger M, Guo X, Lin HJ, Alonso A, Soliman EZ, Kornej J, Lin H, Moscati A, Nadkarni GN, Brody JA, Wiggins KL, Cade BE, Lee J, Austin-Tse C, Blackwell T, Chaffin MD, Lee CJ, Rehm HL, Roselli C; Regeneron Genetics Center; Redline S, Mitchell BD, Sotoodehnia N, Psaty BM, Heckbert SR, Loos RJF, Vasan RS, Benjamin EJ, Correa A, Boerwinkle E, Arking DE, Rotter JI, Rich SS, Whitsel EA, Perez M, Kooperberg C, Fornwalt BK, Lunetta KL, Ellinor PT, Lubitz SA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Choi SH, et al. Circ Genom Precis Med. 2021 Aug;14(4):e003300. doi: 10.1161/CIRCGEN.120.003300. Epub 2021 Jul 28. Circ Genom Precis Med. 2021. PMID: 34319147 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.
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.
Haggerty CM, Damrauer SM, Levin MG, Birtwell D, Carey DJ, Golden AM, Hartzel DN, Hu Y, Judy R, Kelly MA, Kember RL, Lester Kirchner H, Leader JB, Liang L, McDermott-Roe C, Babu A, Morley M, Nealy Z, Person TN, Pulenthiran A, Small A, Smelser DT, Stahl RC, Sturm AC, Williams H, Baras A, Margulies KB, Cappola TP, Dewey FE, Verma A, Zhang X, Correa A, Hall ME, Wilson JG, Ritchie MD, Rader DJ, Murray MF, Fornwalt BK, Arany Z. Haggerty CM, et al. Circulation. 2019 Jul 2;140(1):42-54. doi: 10.1161/CIRCULATIONAHA.119.039573. Epub 2019 Jun 20. Circulation. 2019. PMID: 31216868 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.