Associated Papers
Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.
Bai T et al.
American Journal of Medical Genetics. Part A, 2024
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_1.XLSX › P_or_LP_variants
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Janssen N et al.
Human Mutation, 2012
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE et al.
Journal of Medical Genetics, 2011
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
Jongmans MC et al.
American Journal of Medical Genetics. Part A, 2008
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC et al.
Journal of Medical Genetics, 2006
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