Associated Papers
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S10
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
Baskar D et al.
Journal of Neuromuscular Diseases, 2024
Utilities and Limitations of Cardiac Magnetic Resonance Imaging in Dilated Cardiomyopathy.
Cha MJ et al.
Korean Journal of Radiology, 2023
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.
Vadgama N et al.
Human Genomics, 2022
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
Sanga S et al.
European Journal of Neurology, 2021
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.
Nishiuchi S et al.
Circulation. Cardiovascular Genetics, 2017
The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation.
Arbustini E et al.
Journal of the American College of Cardiology, 2013
The MOGE(S) Classification for a Phenotype-Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation.
Arbustini E et al.
Global Heart, 2013
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