Associated Papers
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.
Gao F et al.
Frontiers in Pediatrics, 2025
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes.
Khattar D et al.
Cureus, 2023
Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.
Tsai MC et al.
Biomedicines, 2023
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Audain E et al.
Plos Genetics, 2021
The evolving role of whole-exome sequencing in the management of disorders of sex development.
Tenenbaum-Rakover Y et al.
Endocrine Connections, 2021
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Matías-Pérez D et al.
Journal of Human 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
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
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
Mutation update on the CHD7 gene involved in CHARGE syndrome.
Janssen N et al.
Human Mutation, 2012
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
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
Wincent J et al.
Clinical Genetics, 2008
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani SR et al.
American Journal of Human Genetics, 2006