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Page 1
Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.
Asatryan B, Murray B, Tadros R, Rieder M, Shah RA, Sharaf Dabbagh G, Landstrom AP, Dobner S, Munroe PB, Haggerty CM, Medeiros-Domingo A, Owens AT, Kullo IJ, Semsarian C, Reichlin T, Barth AS, Roden DM, James CA, Ware JS, Chahal CAA; Genotype‐First Approach Investigators. Asatryan B, et al. Among authors: semsarian c. J Am Heart Assoc. 2024 Nov 5;13(21):e033557. doi: 10.1161/JAHA.123.033557. Epub 2024 Oct 18. J Am Heart Assoc. 2024. PMID: 39424414 Free article. Review.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Kelly MA, et al. Among authors: semsarian c. Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300372 Free PMC article.
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B. Ingles J, et al. Among authors: semsarian c. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460. Circ Genom Precis Med. 2019. PMID: 30681346 Free PMC article.
Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.
Marstrand P, Han L, Day SM, Olivotto I, Ashley EA, Michels M, Pereira AC, Wittekind SG, Helms A, Saberi S, Jacoby D, Ware JS, Colan SD, Semsarian C, Ingles J, Lakdawala NK, Ho CY; SHaRe Investigators. Marstrand P, et al. Among authors: semsarian c. Circulation. 2020 Apr 28;141(17):1371-1383. doi: 10.1161/CIRCULATIONAHA.119.044366. Epub 2020 Mar 31. Circulation. 2020. PMID: 32228044 Free PMC article. Clinical Trial.
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, Yob JM, Woolcock H, Mazzarotto F, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM. Helms AS, et al. Among authors: semsarian c. Circ Genom Precis Med. 2020 Oct;13(5):396-405. doi: 10.1161/CIRCGEN.120.002929. Epub 2020 Aug 25. Circ Genom Precis Med. 2020. PMID: 32841044 Free PMC article.
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis PI, Mazaika E, Allouba M, de Marvao A, Pua CJ, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Olivotto I, Gunnarsson GT, Jefferies JL, Semsarian C, Ingles J, O'Regan DP, Aguib Y, Yacoub MH, Cook SA, Barton PJR, Bottolo L, Ware JS. Zhang X, et al. Among authors: semsarian c. Genet Med. 2021 Jan;23(1):69-79. doi: 10.1038/s41436-020-00972-3. Epub 2020 Oct 13. Genet Med. 2021. PMID: 33046849 Free PMC article.
Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy.
Lakdawala NK, Olivotto I, Day SM, Han L, Ashley EA, Michels M, Ingles J, Semsarian C, Jacoby D, Jefferies JL, Colan SD, Pereira AC, Rossano JW, Wittekind S, Ware JS, Saberi S, Helms AS, Cirino AL, Leinwand LA, Seidman CE, Ho CY. Lakdawala NK, et al. Among authors: semsarian c. Circ Genom Precis Med. 2021 Feb;14(1):e003062. doi: 10.1161/CIRCGEN.120.003062. Epub 2020 Dec 7. Circ Genom Precis Med. 2021. PMID: 33284039
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.
Ghidoni A, Elliott PM, Syrris P, Calkins H, James CA, Judge DP, Murray B, Barc J, Probst V, Schott JJ, Song JP, Hauer RNW, Hoorntje ET, van Tintelen JP, Schulze-Bahr E, Hamilton RM, Mittal K, Semsarian C, Behr ER, Ackerman MJ, Basso C, Parati G, Gentilini D, Kotta MC, Mayosi BM, Schwartz PJ, Crotti L. Ghidoni A, et al. Among authors: semsarian c. Circ Genom Precis Med. 2021 Apr;14(2):e003097. doi: 10.1161/CIRCGEN.120.003097. Epub 2021 Feb 10. Circ Genom Precis Med. 2021. PMID: 33566628 Free PMC article.
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA, Han L, Olivotto I, Day SM, Ashley EA, Michels M, Pereira AC, Ingles J, Semsarian C, Jacoby D, Colan SD, Rossano JW, Wittekind SG, Ware JS, Saberi S, Helms AS, Ho CY. Marston NA, et al. Among authors: semsarian c. Eur Heart J. 2021 May 21;42(20):1988-1996. doi: 10.1093/eurheartj/ehab148. Eur Heart J. 2021. PMID: 33769460 Free PMC article.
435 results