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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: parikh vn. 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: parikh vn. Eur Heart J. 2024 Aug 21;45(32):2968-2979. doi: 10.1093/eurheartj/ehae409. Eur Heart J. 2024. PMID: 39011630 Free PMC article.
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. Among authors: parikh vn. 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.
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.
Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy.
Krysov VA, Wilson RH, Ten NS, Youlton N, De Jong HN, Sutton S, Huang Y, Reuter CM, Grove ME, Wheeler MT, Ashley EA, Parikh VN. Krysov VA, et al. Among authors: parikh vn. Circ Genom Precis Med. 2024 Apr;17(2):e004370. doi: 10.1161/CIRCGEN.123.004370. Epub 2024 Mar 20. Circ Genom Precis Med. 2024. PMID: 38506054 Free PMC article.
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
Claussnitzer M, Parikh VN, Wagner AH, Arbesfeld JA, Bult CJ, Firth HV, Muffley LA, Nguyen Ba AN, Riehle K, Roth FP, Tabet D, Bolognesi B, Glazer AM, Rubin AF. Claussnitzer M, et al. Among authors: parikh vn. ArXiv [Preprint]. 2023 Jun 26:arXiv:2306.15113v1. ArXiv. 2023. Update in: Genome Biol. 2024 Apr 19;25(1):100. doi: 10.1186/s13059-024-03223-9 PMID: 37426450 Free PMC article. Updated. Preprint.
Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.
Meisner JK, Renberg A, Smith ED, Tsan YC, Elder B, Bullard A, Merritt O, Zheng SL, Lakdawala N, Owens A, Ryan TD, Miller EM, Rossano J, Lin KY, Claggett B, Ashley E, Michels M, Lampert R, Stendahl JC, Abrahams D, Semsarian C, Parikh VN, Wheeler M, Ingles J, Day SM, Saberi S, Russell MW, Previs M, Ho C, Ware JS, Helms AS. Meisner JK, et al. Among authors: parikh vn. Circulation. 2024 Dec 5. doi: 10.1161/CIRCULATIONAHA.124.069398. Online ahead of print. Circulation. 2024. PMID: 39633578
Long-Term Outcomes After Septal Reduction Therapies in Obstructive Hypertrophic Cardiomyopathy: Insights From the SHARE Registry.
Maurizi N, Antiochos P, Owens A, Lakdwala N, Saberi S, Russell MW, Fumagalli C, Skalidis I, Lin KY, Nathan AS, De Feria Alsina A, Reza N, Stendahl JC, Abrams D, Semsarian C, Clagget B, Lampert R, Wheeler M, Parikh VN, Ashley E, Michels M, Rossano J, Ryan TD, Ingles J, Ware J, Ho CY, Helms AS, Day SM, Olivotto I. Maurizi N, et al. Among authors: parikh vn. Circulation. 2024 Oct 22;150(17):1377-1390. doi: 10.1161/CIRCULATIONAHA.124.069378. Epub 2024 Oct 2. Circulation. 2024. PMID: 39355918
Multisite 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, Shoemaker MB, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM. Ma JG, et al. Among authors: parikh vn. Circ Genom Precis Med. 2024 Aug;17(4):e004569. doi: 10.1161/CIRCGEN.124.004569. Epub 2024 Jul 2. Circ Genom Precis Med. 2024. PMID: 38953211 Free article.
55 results