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Page 1
Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3.
Kornienko J, Rodríguez-Martínez M, Fenzl K, Hinze F, Schraivogel D, Grosch M, Tunaj B, Lindenhofer D, Schraft L, Kueblbeck M, Smith E, Mao C, Brown E, Owens A, Saguner AM, Meder B, Parikh V, Gotthardt M, Steinmetz LM. Kornienko J, et al. Among authors: parikh v. Nat Commun. 2023 Jul 18;14(1):4312. doi: 10.1038/s41467-023-39965-6. Nat Commun. 2023. PMID: 37463913 Free PMC article.
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.
Parikh VN, Caleshu C, Reuter C, Lazzeroni LC, Ingles J, Garcia J, McCaleb K, Adesiyun T, Sedaghat-Hamedani F, Kumar S, Graw S, Gigli M, Stolfo D, Dal Ferro M, Ing AY, Nussbaum R, Funke B, Wheeler MT, Hershberger RE, Cook S, Steinmetz LM, Lakdawala NK, Taylor MRG, Mestroni L, Merlo M, Sinagra G, Semsarian C, Meder B, Judge DP, Ashley E. Parikh VN, et al. Circ Heart Fail. 2019 Mar;12(3):e005371. doi: 10.1161/CIRCHEARTFAILURE.118.005371. Circ Heart Fail. 2019. PMID: 30871351 Free PMC article.
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.
The response to cardiac resynchronization therapy in LMNA cardiomyopathy.
Sidhu K, Castrini AI, Parikh V, Reza N, Owens A, Tremblay-Gravel M, Wheeler MT, Mestroni L, Taylor M, Graw S, Gigli M, Merlo M, Paldino A, Sinagra G, Judge DP, Ramos H, Mesubi O, Brown E, Turnbull S, Kumar S, Roy D, Tedrow UB, Ngo L, Haugaa K, Lakdawala NK. Sidhu K, et al. Among authors: parikh v. Eur J Heart Fail. 2022 Apr;24(4):685-693. doi: 10.1002/ejhf.2463. Epub 2022 Mar 14. Eur J Heart Fail. 2022. PMID: 35229420 Free PMC article.
Cardiac splicing as a diagnostic and therapeutic target.
Gotthardt M, Badillo-Lisakowski V, Parikh VN, Ashley E, Furtado M, Carmo-Fonseca M, Schudy S, Meder B, Grosch M, Steinmetz L, Crocini C, Leinwand L. Gotthardt M, et al. Among authors: parikh vn. Nat Rev Cardiol. 2023 Aug;20(8):517-530. doi: 10.1038/s41569-022-00828-0. Epub 2023 Jan 18. Nat Rev Cardiol. 2023. PMID: 36653465 Review.
Genetic architecture of cardiac dynamic flow volumes.
Gomes B, Singh A, O'Sullivan JW, Schnurr TM, Goddard PC, Loong S, Amar D, Hughes JW, Kostur M, Haddad F, Salerno M, Foo R, Montgomery SB, Parikh VN, Meder B, Ashley EA. Gomes B, et al. Nat Genet. 2024 Feb;56(2):245-257. doi: 10.1038/s41588-023-01587-5. Epub 2023 Dec 11. Nat Genet. 2024. PMID: 38082205
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
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.
Cordero P, Parikh VN, Chin ET, Erbilgin A, Gloudemans MJ, Shang C, Huang Y, Chang AC, Smith KS, Dewey F, Zaleta K, Morley M, Brandimarto J, Glazer N, Waggott D, Pavlovic A, Zhao M, Moravec CS, Tang WHW, Skreen J, Malloy C, Hannenhalli S, Li H, Ritter S, Li M, Bernstein D, Connolly A, Hakonarson H, Lusis AJ, Margulies KB, Depaoli-Roach AA, Montgomery SB, Wheeler MT, Cappola T, Ashley EA. Cordero P, et al. Nat Commun. 2019 Jun 24;10(1):2760. doi: 10.1038/s41467-019-10591-5. Nat Commun. 2019. PMID: 31235787 Free PMC article.
Correction to: 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):2014. doi: 10.1038/s41436-021-01298-4. Genet Med. 2021. PMID: 34408292 Free PMC article. No abstract available.
Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.
Nauffal V, Marstrand P, Han L, Parikh VN, Helms AS, Ingles J, Jacoby D, Lakdawala NK, Kapur S, Michels M, Owens AT, Ashley EA, Pereira AC, Rossano JW, Saberi S, Semsarian C, Ware JS, Wittekind SG, Day S, Olivotto I, Ho CY. Nauffal V, et al. Among authors: parikh vn. Eur Heart J. 2021 Oct 7;42(38):3932-3944. doi: 10.1093/eurheartj/ehab598. Eur Heart J. 2021. PMID: 34491319 Free PMC article.
348 results