Associated Papers
Whole exome sequencing study of families with single atrium and/or single ventricle identifies de novo mutations in CORIN and TTLL10 as potential pathogenic genes.
Wu Y et al.
Gene, 2025
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
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.
Chiriatti L et al.
Genes, 2025
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P et al.
Molecular Genetics & Genomic Medicine, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T et al.
European Journal of Human Genetics : Ejhg, 2024
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Chuan Z et al.
Frontiers in Genetics, 2022
Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome.
Wu X et al.
Frontiers in Genetics, 2022
Prenatal exome sequencing in fetuses with congenital heart defects.
Li R et al.
Clinical Genetics, 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination.
He D et al.
Nature Neuroscience, 2016
Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
Husu E et al.
Clinical Genetics, 2013
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
Pauli S et al.
Clinical Genetics, 2012
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC et al.
Journal of Medical Genetics, 2006