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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh R, Mazzarotto F, Whiffin N, Buchan R, Midwinter W, Wilk A, Li N, Felkin L, Ingold N, Govind R, Ahmad M, Mazaika E, Allouba M, Zhang X, de Marvao A, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Thomson KL, Watkins H, Barton PJR, Olivotto I, Cook SA, Ware JS. Walsh R, et al. Among authors: colan sd. Genome Med. 2019 Jan 29;11(1):5. doi: 10.1186/s13073-019-0616-z. Genome Med. 2019. PMID: 30696458 Free PMC article.
Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Lakdawala NK, et al. Among authors: colan sd. J Am Coll Cardiol. 2010 Jan 26;55(4):320-9. doi: 10.1016/j.jacc.2009.11.017. J Am Coll Cardiol. 2010. PMID: 20117437 Free PMC article.
Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.
Ho CY, López B, Coelho-Filho OR, Lakdawala NK, Cirino AL, Jarolim P, Kwong R, González A, Colan SD, Seidman JG, Díez J, Seidman CE. Ho CY, et al. Among authors: colan sd. N Engl J Med. 2010 Aug 5;363(6):552-63. doi: 10.1056/NEJMoa1002659. N Engl J Med. 2010. PMID: 20818890 Free PMC article.
Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy.
Lakdawala NK, Thune JJ, Maron BJ, Cirino AL, Havndrup O, Bundgaard H, Christiansen M, Carlsen CM, Dorval JF, Kwong RY, Colan SD, Køber LV, Ho CY. Lakdawala NK, et al. Among authors: colan sd. Am J Cardiol. 2011 Dec 1;108(11):1606-13. doi: 10.1016/j.amjcard.2011.07.019. Epub 2011 Sep 21. Am J Cardiol. 2011. PMID: 21943931 Free PMC article.
Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.
Lakdawala NK, Thune JJ, Colan SD, Cirino AL, Farrohi F, Rivero J, McDonough B, Sparks E, Orav EJ, Seidman JG, Seidman CE, Ho CY. Lakdawala NK, et al. Among authors: colan sd. Circ Cardiovasc Genet. 2012 Oct 1;5(5):503-10. doi: 10.1161/CIRCGENETICS.112.962761. Epub 2012 Sep 4. Circ Cardiovasc Genet. 2012. PMID: 22949430 Free PMC article.
Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.
Valente AM, Lakdawala NK, Powell AJ, Evans SP, Cirino AL, Orav EJ, MacRae CA, Colan SD, Ho CY. Valente AM, et al. Among authors: colan sd. Circ Cardiovasc Genet. 2013 Jun;6(3):230-7. doi: 10.1161/CIRCGENETICS.113.000037. Epub 2013 May 20. Circ Cardiovasc Genet. 2013. PMID: 23690394 Free PMC article.
Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression.
Ho CY, Lakdawala NK, Cirino AL, Lipshultz SE, Sparks E, Abbasi SA, Kwong RY, Antman EM, Semsarian C, González A, López B, Diez J, Orav EJ, Colan SD, Seidman CE. Ho CY, et al. Among authors: colan sd. JACC Heart Fail. 2015 Feb;3(2):180-8. doi: 10.1016/j.jchf.2014.08.003. Epub 2014 Oct 31. JACC Heart Fail. 2015. PMID: 25543971 Free PMC article. Clinical Trial.
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: colan sd. 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.
The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study.
Ho CY, Day SM, Colan SD, Russell MW, Towbin JA, Sherrid MV, Canter CE, Jefferies JL, Murphy AM, Cirino AL, Abraham TP, Taylor M, Mestroni L, Bluemke DA, Jarolim P, Shi L, Sleeper LA, Seidman CE, Orav EJ; HCMNet Investigators. Ho CY, et al. Among authors: colan sd. JAMA Cardiol. 2017 Apr 1;2(4):419-428. doi: 10.1001/jamacardio.2016.5670. JAMA Cardiol. 2017. PMID: 28241245 Free PMC article.
511 results