Associated Papers
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 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
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Wayhelova M et al.
Orphanet Journal of Rare Diseases, 2024
Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas.
Khowal S et al.
Journal of Neuro-oncology, 2024
Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.
Yi T et al.
Esc Heart Failure, 2023
Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
Zhu X et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.
Kim JH et al.
Endocrine Connections, 2022
Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.
Qiao F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021
Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.
Wei H 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
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Atopic disorders in CHARGE syndrome: A retrospective study and literature review.
Kong F et al.
European Journal of Medical Genetics, 2018
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
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
Hale CL et al.
American Journal of Medical Genetics. Part A, 2016
CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
Green GE et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2014
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
Wincent J et al.
Clinical Genetics, 2008
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
Aramaki M et al.
The Journal of Pediatrics, 2006