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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh R, Mazzarotto F, Whiffin N, Buchan R, Midwinter W, Wilk A, Li N, Felkin L, Ingold N, Govind R, Ahmad M, Mazaika E, Allouba M, Zhang X, de Marvao A, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Thomson KL, Watkins H, Barton PJR, Olivotto I, Cook SA, Ware JS. Walsh R, et al. Among authors: jacoby d. Genome Med. 2019 Jan 29;11(1):5. doi: 10.1186/s13073-019-0616-z. Genome Med. 2019. PMID: 30696458 Free PMC article.
Genetics of inherited cardiomyopathy.
Jacoby D, McKenna WJ. Jacoby D, et al. Eur Heart J. 2012 Feb;33(3):296-304. doi: 10.1093/eurheartj/ehr260. Epub 2011 Aug 2. Eur Heart J. 2012. PMID: 21810862 Free PMC article. Review.
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I. Ho CY, et al. Among authors: jacoby d. Circulation. 2018 Oct 2;138(14):1387-1398. doi: 10.1161/CIRCULATIONAHA.117.033200. Epub 2018 Aug 23. Circulation. 2018. PMID: 30297972 Free PMC article.
Response by Ho et al to Letter Regarding Article, "Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)".
Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Lakdawala NK, Ware JS, Helms AS, Colan SD, Seidman CE, Olivotto I; SHaRe Investigators. Ho CY, et al. Among authors: jacoby d. Circulation. 2019 Mar 19;139(12):1559-1560. doi: 10.1161/CIRCULATIONAHA.118.039069. Circulation. 2019. PMID: 30883221 Free PMC article. No abstract available.
Association of Obesity With Adverse Long-term Outcomes in Hypertrophic Cardiomyopathy.
Fumagalli C, Maurizi N, Day SM, Ashley EA, Michels M, Colan SD, Jacoby D, Marchionni N, Vincent-Tompkins J, Ho CY, Olivotto I; SHARE Investigators. Fumagalli C, et al. Among authors: jacoby d. JAMA Cardiol. 2020 Jan 1;5(1):65-72. doi: 10.1001/jamacardio.2019.4268. JAMA Cardiol. 2020. PMID: 31693057 Free PMC article.
Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.
Neubauer S, Kolm P, Ho CY, Kwong RY, Desai MY, Dolman SF, Appelbaum E, Desvigne-Nickens P, DiMarco JP, Friedrich MG, Geller N, Harper AR, Jarolim P, Jerosch-Herold M, Kim DY, Maron MS, Schulz-Menger J, Piechnik SK, Thomson K, Zhang C, Watkins H, Weintraub WS, Kramer CM; HCMR Investigators. Neubauer S, et al. J Am Coll Cardiol. 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057. J Am Coll Cardiol. 2019. PMID: 31699273 Free PMC article.
410 results