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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. Among authors: meder b. Nat Genet. 2024 Feb;56(2):245-257. doi: 10.1038/s41588-023-01587-5. Epub 2023 Dec 11. Nat Genet. 2024. PMID: 38082205
Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects.
Hu R, Morley MP, Brandimarto J, Tucker NR, Parsons VA, Zhao SD, Meder B, Katus HA, Rühle F, Stoll M, Villard E, Cambien F, Lin H, Smith NL, Felix JF, Vasan RS, van der Harst P, Newton-Cheh C, Li J, Kim CE, Hakonarson H, Hannenhalli S, Ashley EA, Moravec CS, Tang WHW, Maillet M, Molkentin JD, Ellinor PT, Margulies KB, Cappola TP. Hu R, et al. Among authors: meder b. Circ Genom Precis Med. 2018 Mar;11(3):e001901. doi: 10.1161/CIRCGEN.117.001901. Circ Genom Precis Med. 2018. PMID: 29540468 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. Among authors: meder b. Circ Heart Fail. 2019 Mar;12(3):e005371. doi: 10.1161/CIRCHEARTFAILURE.118.005371. Circ Heart Fail. 2019. PMID: 30871351 Free PMC article.
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, Kelu Bisabu K, Walsh R, Hoorntje ET, Te Rijdt WP, Buchan RJ, van Velzen HG, van Slegtenhorst MA, Vermeulen JM, Offerhaus JA, Bai W, de Marvao A, Lahrouchi N, Beekman L, Karper JC, Veldink JH, Kayvanpour E, Pantazis A, Baksi AJ, Whiffin N, Mazzarotto F, Sloane G, Suzuki H, Schneider-Luftman D, Elliott P, Richard P, Ader F, Villard E, Lichtner P, Meitinger T, Tanck MWT, van Tintelen JP, Thain A, McCarty D, Hegele RA, Roberts JD, Amyot J, Dubé MP, Cadrin-Tourigny J, Giraldeau G, L'Allier PL, Garceau P, Tardif JC, Boekholdt SM, Lumbers RT, Asselbergs FW, Barton PJR, Cook SA, Prasad SK, O'Regan DP, van der Velden J, Verweij KJH, Talajic M, Lettre G, Pinto YM, Meder B, Charron P, de Boer RA, Christiaans I, Michels M, Wilde AAM, Watkins H, Matthews PM, Ware JS, Bezzina CR. Tadros R, et al. Among authors: meder b. Nat Genet. 2021 Feb;53(2):128-134. doi: 10.1038/s41588-020-00762-2. Epub 2021 Jan 25. Nat Genet. 2021. PMID: 33495596 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: meder b. 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.
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: meder b. Nat Commun. 2023 Jul 18;14(1):4312. doi: 10.1038/s41467-023-39965-6. Nat Commun. 2023. PMID: 37463913 Free PMC article.
250 results