Associated Papers
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40127276 (PubMed )
Supplement: pnas.2420343122.sapp.pdf
CHARGE syndrome in nine patients from China.
Cheng SSW et al.
American Journal of Medical Genetics. Part A, 2020
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
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Legendre M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Butcher DT et al.
American Journal of Human Genetics, 2017
28475860 (PubMed )
Supplement: mmc1.pdf
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
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