Associated Papers
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
Shin S et al.
Pediatric Neurology, 2023
Analysis of the CHD7 gene mutations in patients of congenital heart disease with extracardiac malformations.
Huang X et al.
Translational Pediatrics, 2023
Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.
Yi T et al.
Esc Heart Failure, 2023
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
De Luca C et al.
American Journal of Medical Genetics. Part A, 2021
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun J et al.
Clinical & Translational Immunology, 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
A unique case of CHARGE syndrome with craniosynostosis.
Siakallis L et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2019
Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.
Moccia A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
Husu E et al.
Clinical Genetics, 2013
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Legendre M et al.
Journal of Medical 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
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
Aramaki M et al.
The Journal of Pediatrics, 2006