Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
Identification of two compound heterozygous GNRHR mutations in two siblings with congenital hypogonadotropic hypogonadism.
Wang XB et al.
Asian Journal of Andrology, 2024
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S et al.
Journal of Medical Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.
Wang Y et al.
Frontiers in Endocrinology, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 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
CHARGE syndrome without colobomas: Ophthalmic findings.
Dosunmu EO et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
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
Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report.
Lee YL et al.
Journal of the Asean Federation of Endocrine Societies, 2020
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.
Brajadenta GS et al.
European Journal of Human Genetics : Ejhg, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.
Bilan F et al.
The Journal of Molecular Diagnostics : Jmd, 2012
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 gene.
Holak HM et al.
Ophthalmic Genetics, 2008
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
Vuorela P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
CHD7 gene and non-syndromic cleft lip and palate.
Félix TM et al.
American Journal of Medical Genetics. Part A, 2006
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC et al.
Journal of Medical Genetics, 2006