Associated Papers
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.
Gupta S et al.
Frontiers in Genetics, 2025
[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].
Ge L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome.
Sonoda M et al.
Pediatric Blood & Cancer, 2024
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T et al.
European Journal of Human Genetics : Ejhg, 2024
Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism.
Wang T et al.
Heliyon, 2024
Stroke in a protein C-deficient infant after stem cell transplant for CHARGE syndrome.
Tanaka A et al.
Pediatric Blood & Cancer, 2023
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF et al.
Nature Communications, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.
Kim JH et al.
Endocrine Connections, 2022
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.
Goos JAC et al.
European Journal of Human Genetics : Ejhg, 2017
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.
Sohn YB et al.
Journal of Human Genetics, 2016
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
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Legendre M et al.
Journal of Medical Genetics, 2012
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
Pauli S et al.
Clinical Genetics, 2012
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 the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
Delahaye A et al.
Clinical Genetics, 2007
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MC et al.
Journal of Medical Genetics, 2006
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Vissers LE et al.
Nature Genetics, 2004
Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.
Wessels K et al.
European Journal of Medical Genetics, 0