Associated Papers
A novel cardiomyopathy phenotype linked to a CHD7 missense variant.
Park IY et al.
Scientific Reports, 2025
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
Balasubramanian R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
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