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Page 1
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: day sm. 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.
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: day sm. 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
Discordant clinical features of identical hypertrophic cardiomyopathy twins.
Repetti GG, Kim Y, Pereira AC, Ingles J, Russell MW, Lakdawala NK, Ho CY, Day S, Semsarian C, McDonough B, DePalma SR, Quiat D, Green EM, Seidman CE, Seidman JG. Repetti GG, et al. Proc Natl Acad Sci U S A. 2021 Mar 9;118(10):e2021717118. doi: 10.1073/pnas.2021717118. Proc Natl Acad Sci U S A. 2021. PMID: 33658374 Free PMC article.
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
Puckelwartz MJ, Pesce LL, Dellefave-Castillo LM, Wheeler MT, Pottinger TD, Robinson AC, Kearns SD, Gacita AM, Schoppen ZJ, Pan W, Kim G, Wilcox JE, Anderson AS, Ashley EA, Day SM, Cappola T, Dorn GW 2nd, McNally EM. Puckelwartz MJ, et al. Among authors: day sm. J Am Heart Assoc. 2021 Apr 6;10(7):e019944. doi: 10.1161/JAHA.120.019944. Epub 2021 Mar 25. J Am Heart Assoc. 2021. PMID: 33764162 Free PMC article.
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD, Helms AS, Kannan A, Yob J, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM. Thompson AD, et al. Among authors: day sm. Genet Med. 2021 Jul;23(7):1281-1287. doi: 10.1038/s41436-021-01134-9. Epub 2021 Mar 29. Genet Med. 2021. PMID: 33782553 Free PMC article.
Sex-Specific Effects of MTSS1 Downregulation on Dilated Cardiomyopathy.
Choe D, Burke M, Brandimarto JA, Marti-Pamies I, Yob J, Yang Y, Morley MP, Drivas TG, Day S, Levin M, Damrauer S, Wang X, Cappola TP. Choe D, et al. Circulation. 2024 Nov 12;150(20):1648-1651. doi: 10.1161/CIRCULATIONAHA.124.070418. Epub 2024 Nov 11. Circulation. 2024. PMID: 39527655 No abstract available.
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
Helms AS, Davis FM, Coleman D, Bartolone SN, Glazier AA, Pagani F, Yob JM, Sadayappan S, Pedersen E, Lyons R, Westfall MV, Jones R, Russell MW, Day SM. Helms AS, et al. Among authors: day sm. Circ Cardiovasc Genet. 2014 Aug;7(4):434-43. doi: 10.1161/CIRCGENETICS.113.000448. Epub 2014 Jul 16. Circ Cardiovasc Genet. 2014. PMID: 25031304 Free PMC article.
Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy.
Captur G, Lopes LR, Mohun TJ, Patel V, Li C, Bassett P, Finocchiaro G, Ferreira VM, Esteban MT, Muthurangu V, Sherrid MV, Day SM, Canter CE, McKenna WJ, Seidman CE, Bluemke DA, Elliott PM, Ho CY, Moon JC. Captur G, et al. Among authors: day sm. Circ Cardiovasc Imaging. 2014 Nov;7(6):863-71. doi: 10.1161/CIRCIMAGING.114.002411. Epub 2014 Sep 16. Circ Cardiovasc Imaging. 2014. PMID: 25228707 Free PMC article.
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
Homburger JR, Green EM, Caleshu C, Sunitha MS, Taylor RE, Ruppel KM, Metpally RP, Colan SD, Michels M, Day SM, Olivotto I, Bustamante CD, Dewey FE, Ho CY, Spudich JA, Ashley EA. Homburger JR, et al. Among authors: day sm. Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6701-6. doi: 10.1073/pnas.1606950113. Epub 2016 May 31. Proc Natl Acad Sci U S A. 2016. PMID: 27247418 Free PMC article.
212 results