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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 1 |
2015 | 1 |
2016 | 2 |
2017 | 1 |
2020 | 1 |
2022 | 1 |
2024 | 0 |
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Page 1
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
Mayo Clin Proc. 2014 Jun;89(6):727-37. doi: 10.1016/j.mayocp.2014.01.025. Epub 2014 May 1.
Mayo Clin Proc. 2014.
PMID: 24793961
Free PMC article.
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL.
Alfares AA, et al.
Genet Med. 2015 Nov;17(11):880-8. doi: 10.1038/gim.2014.205. Epub 2015 Jan 22.
Genet Med. 2015.
PMID: 25611685
Free article.
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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.
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.
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.
Walsh R, et al.
Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
Genet Med. 2017.
PMID: 27532257
Free PMC article.
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Clinical Utility of a Phenotype-Enhanced MYH7-Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.
Mattivi CL, Bos JM, Bagnall RD, Nowak N, Giudicessi JR, Ommen SR, Semsarian C, Ackerman MJ.
Mattivi CL, et al.
Circ Genom Precis Med. 2020 Oct;13(5):453-459. doi: 10.1161/CIRCGEN.120.003039. Epub 2020 Sep 7.
Circ Genom Precis Med. 2020.
PMID: 32894683
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A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.
Park J, Packard EA, Levin MG, Judy RL; Regeneron Genetics Center; Damrauer SM, Day SM, Ritchie MD, Rader DJ.
Park J, et al.
Hum Mol Genet. 2022 Mar 3;31(5):827-837. doi: 10.1093/hmg/ddab249.
Hum Mol Genet. 2022.
PMID: 34542152
Free PMC article.
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