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Year | Number of Results |
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2015 | 1 |
2016 | 3 |
2017 | 1 |
2018 | 1 |
2024 | 0 |
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Page 1
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.
Bottillo I, D'Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Giannarelli D, Pizzuti A, Majore S, Castori M, Zachara E, Re F, Grammatico P.
Bottillo I, et al.
Gene. 2016 Feb 15;577(2):227-35. doi: 10.1016/j.gene.2015.11.048. Epub 2015 Dec 2.
Gene. 2016.
PMID: 26656175
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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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Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.
Mattos BP, Scolari FL, Torres MA, Simon L, Freitas VC, Giugliani R, Matte Ú.
Mattos BP, et al.
Arq Bras Cardiol. 2016 Sep;107(3):257-265. doi: 10.5935/abc.20160133.
Arq Bras Cardiol. 2016.
PMID: 27737317
Free PMC article.
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Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I.
Ho CY, et al.
Circulation. 2018 Oct 2;138(14):1387-1398. doi: 10.1161/CIRCULATIONAHA.117.033200. Epub 2018 Aug 23.
Circulation. 2018.
PMID: 30297972
Free PMC article.
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