Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Discovery of Novel Variants on the CHD7 Gene: A Case Series of CHARGE Syndrome.
Wu X et al.
Frontiers in Genetics, 2022
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.
Zhao C 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
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Boissel S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.
Sohn YB et al.
Journal of Human Genetics, 2016
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE et al.
Journal of Medical Genetics, 2011
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly.
Douglas AGL et al.
Clinical Dysmorphology, 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