Associated Papers
New CHARGE Syndrome Mouse Models Reveal the Contribution of the Enzymatic Activity of CHD7 in Pathogenesis.
Wang Z et al.
Genesis (new York, N.y. : 2000), 2025
ATPase-deficient CHD7 disease variant disrupts neural development via chromatin dysregulation.
Wang G et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.
Gao F et al.
Frontiers in Pediatrics, 2025
Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.
Poch A et al.
Molecular and Cellular Endocrinology, 2024
CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.
Driesen J et al.
Genes, 2024
Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description.
Saenz Hinojosa S et al.
Heliyon, 2024
ATP-Dependent Chromatin Remodellers in Inner Ear Development.
Chohra I et al.
Cells, 2023
Clinical Manifestations, Genetic Variants and Therapeutic Evaluation in Sporadic Chinese Patients with Idiopathic Hypogonadotropic Hypogonadism.
He D et al.
International Journal of General Medicine, 2023
CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.
Nie J et al.
Nature Communications, 2022
Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.
Cardoso AR et al.
Genes, 2021
CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.
Yan S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Genotranscriptomic meta-analysis of the CHD family chromatin remodelers in human cancers - initial evidence of an oncogenic role for CHD7.
Chu X et al.
Molecular Oncology, 2017
Versatile Roles of the Chromatin Remodeler CHD7 during Brain Development and Disease.
Feng W et al.
Frontiers in Molecular Neuroscience, 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
Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.
Basson MA et al.
Trends in Genetics : Tig, 2015
Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.
Bouazoune K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
Bergman JE et al.
Human Mutation, 2012
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Fertility and Sterility, 2011
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG et al.
Molecular and Cellular Endocrinology, 2011
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE et al.
Journal of Medical Genetics, 2011
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG et al.
American Journal of Human Genetics, 2008
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
Delahaye A et al.
Clinical Genetics, 2007
Radial aplasia in CHARGE syndrome: a new association.
Wright EM et al.
European Journal of Medical Genetics, 0