Associated Papers
The p.P51L mutation in human HspB5: Structural and functional changes linked to cardiomyopathy and cataract pathogenesis.
Somee LR et al.
International Journal of Biological Macromolecules, 2025
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf
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
A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.
Wilson KD et al.
Circulation Research, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 670.267
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Alpha B-crystallin mutation in dilated cardiomyopathy.
Inagaki N et al.
Biochemical and Biophysical Research Communications, 2006
[Alpha]B-crystallin genotype has impact on the multiple sclerosis phenotype.
van Veen T et al.
Neurology, 2003
Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L.
Hahner A et al.
Human Mutation, 2000
Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites.
Benndorf R et al.
Mutation Research. Reviews in Mutation Research, 0
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