Associated Papers
Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7, FGFR1, and ANOS1 in Congenital Hypogonadotropic Hypogonadism.
Li Y et al.
Clinical Genetics, 2025
Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.
Mustafa HJ et al.
Prenatal Diagnosis, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
Mutai H et al.
Human Genetics, 2025
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A et al.
Plos One, 2023
Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery.
Sun H et al.
Scientific Reports, 2022
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.
Bedeschi MF et al.
Italian Journal of Pediatrics, 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
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
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
A neonate with marked prolonged mixed apneas and CHARGE syndrome: a case report.
Riedijk MA et al.
Journal of Medical Case Reports, 2018
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.
Legendre M et al.
European Journal of Human Genetics : Ejhg, 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
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
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts.
Wong MT et al.
The Journal of Pediatrics, 2016
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
Busa T et al.
Prenatal Diagnosis, 2016
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.
Sohn YB et al.
Journal of Human Genetics, 2016
Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.
Basson MA et al.
Trends in Genetics : Tig, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
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