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
De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.
Wu J et al.
Bmc Pediatrics, 2025
Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.
Sheng H et al.
Orphanet Journal of Rare Diseases, 2025
Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.
Kettler M et al.
Journal of the American Academy of Audiology, 2025
Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).
Koenigbauer JT et al.
Archives of Gynecology and Obstetrics, 2024
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.
Kim JH et al.
Endocrine Connections, 2022
Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.
Liu Q et al.
Bmc Endocrine Disorders, 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
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Tan NB et al.
Molecular Genetics & Genomic Medicine, 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
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.
Kim JH et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2019
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
Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome.
Shoji Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 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
CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome.
Song MH et al.
Plos One, 2011
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