Associated Papers
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis: Highlights From Genetic Testing.
Ader F et al.
Circulation. Genomic and Precision Medicine, 2020
32522011 (PubMed )
Supplement: circgenetics_circcvg-2019-002744_supp1.pdf
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S5
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12
The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.
Davis JS et al.
Cell, 2001
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