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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2004 | 1 |
2015 | 1 |
2016 | 2 |
2017 | 1 |
2019 | 2 |
2020 | 1 |
2024 | 0 |
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Page 1
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
J Am Coll Cardiol. 2004 Aug 4;44(3):602-10. doi: 10.1016/j.jacc.2004.04.039.
J Am Coll Cardiol. 2004.
PMID: 15358028
Free article.
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM.
Capalbo A, et al.
PLoS Genet. 2019 Oct 7;15(10):e1008409. doi: 10.1371/journal.pgen.1008409. eCollection 2019 Oct.
PLoS Genet. 2019.
PMID: 31589614
Free PMC 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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Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy.
Robyns T, Breckpot J, Nuyens D, Vandenberk B, Corveleyn A, Kuiperi C, Van Aelst L, Van Cleemput J, Willems R.
Robyns T, et al.
Eur J Med Genet. 2020 Mar;63(3):103754. doi: 10.1016/j.ejmg.2019.103754. Epub 2019 Sep 9.
Eur J Med Genet. 2020.
PMID: 31513939
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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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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.
Richards S, et al.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
Genet Med. 2015.
PMID: 25741868
Free PMC article.
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