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Page 1
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Jordan E, Josephs K, Mayers M, Peters S, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Murray B, Muiño-Mosquera L, Parikh V, Reuter C, Walsh R, Wayburn B, Ware JS, Ingles J. Hespe S, et al. Among authors: parikh v. J Am Coll Cardiol. 2025 Feb 25;85(7):727-740. doi: 10.1016/j.jacc.2024.12.010. J Am Coll Cardiol. 2025. PMID: 39971408 Free PMC article.
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. Eur Heart J. 2024 Aug 21;45(32):2968-2979. doi: 10.1093/eurheartj/ehae409. Eur Heart J. 2024. PMID: 39011630 Free PMC article.
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. Eur Heart J. 2025 Jan 21;46(4):362-376. doi: 10.1093/eurheartj/ehae571. Eur Heart J. 2025. PMID: 39288222 Free PMC article.
Arrhythmic Risk Stratification of Carriers of Filamin C Truncating Variants.
Filamin C Registry Consortium; Gigli M, Stolfo D, Barbati G, Graw S, Chen SN, Merlo M, Medo K, Gregorio C, Dal Ferro M, Paldino A, Perotto M, Peter van Tintelen J, Te Riele ASJM, Baas AF, Wilde AM, Amin AS, Houweling AC, Elliott P, Cannie D, Michels M, Schoonvelde SAC, Prasad S, Tayal PU, Yazdani M, Morris-Rosendahl D, Garcia-Pavia P, Cabrera-Romero E, Bauce B, Pilichou K, Fatkin D, Johnson R, Judge DP, Foil KL, Heymans S, Verdonschot JAJ, Stroeks SLVM, Lakdawala NK, Anisha P, O'Neill M, Shoemaker MB, Roden DM, Calkins H, James CA, Murray B, Parikh VN, Ashley EA, Reuter C, Imazio M, Canepa M, Ameri P, Song J, Sinagra G, Taylor MRG, Mestroni L. Filamin C Registry Consortium, et al. Among authors: parikh vn. JAMA Cardiol. 2025 Apr 1;10(4):359-369. doi: 10.1001/jamacardio.2024.5543. JAMA Cardiol. 2025. PMID: 39937464
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Butters A, Thomson K, Harrington F, Henden N, McGuire K, Byrne AB, Bryen S, McGurk KA, Leask M, Ackerman MJ, Atherton J, Bos JM, Caleshu C, Day SM, Dunn K, Hayes I, Juang J, McGaughran J, Nowak N, Parikh VN, Ronan A, Semsarian C, Tardiff JC, Tiemensma M, Merriman TR, Ware JS, Skinner JR, MacArthur DG, Siggs OM, Bagnall RD, Ingles J. Butters A, et al. Eur Heart J. 2025 Apr 15;46(15):1446-1449. doi: 10.1093/eurheartj/ehaf001. Eur Heart J. 2025. PMID: 40038847 No abstract available.
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Ma JG, O'Neill MJ, Richardson E, Thomson KL, Ingles J, Muhammad A, Solus JF, Davogustto G, Anderson KC, Benjamin Shoemaker M, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM. Ma JG, et al. medRxiv [Preprint]. 2023 Dec 20:2023.12.19.23299592. doi: 10.1101/2023.12.19.23299592. medRxiv. 2023. Update in: Circ Genom Precis Med. 2024 Aug;17(4):e004569. doi: 10.1161/CIRCGEN.124.004569. PMID: 38196587 Free PMC article. Updated. Preprint.
Correction to: Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.
Meisner JK, Renberg A, Smith ED, Tsan YC, Elder B, Bullard A, Merritt OL, Zheng SL, Lakdawala NK, Owens AT, Ryan TD, Miller EM, Rossano JW, Lin KY, Claggett BL, Ashley EA, Michels M, Lampert R, Stendahl JC, Abrams D, Semsarian C, Parikh VN, Wheeler MT, Ingles J, Olivotto I, Day SM, Saberi S, Russell MW, Previs M, Ho CY, Ware JS, Helms AS. Meisner JK, et al. Circulation. 2025 Mar 18;151(11):e762. doi: 10.1161/CIR.0000000000001318. Epub 2025 Mar 17. Circulation. 2025. PMID: 40096296 Free article. No abstract available.
One-year real-world experience with mavacamten and its physiologic effects on obstructive hypertrophic cardiomyopathy.
Kim DS, Chu EL, Keamy-Minor EE, Paranjpe ID, Tang WL, O'Sullivan JW, Desai YB, Liu MB, Munsey E, Hecker K, Cuenco I, Kao B, Bacolor E, Bonnett C, Linder A, Lacar K, Robles N, Lamendola C, Smith A, Knowles JW, Perez MV, Kawana M, Sallam KI, Weldy CS, Wheeler MT, Parikh VN, Salisbury H, Ashley EA; Stanford Center for Inherited Cardiovascular Disease. Kim DS, et al. Among authors: parikh vn. Front Cardiovasc Med. 2024 Aug 30;11:1429230. doi: 10.3389/fcvm.2024.1429230. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 39314763 Free PMC article.
368 results