Associated Papers
T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.
Kinoshita Y et al.
Cell Biochemistry and Biophysics, 2025
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Zhu S et al.
Human Mutation, 2025
40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3
Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.
Dong R et al.
Human Genomics, 2024
39472949 (PubMed )
Supplement: 40246_2024_683_MOESM2_ESM.xls › Sheet1
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
Itai T et al.
Hgg Advances, 2024
38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome.
Sonoda M et al.
Pediatric Blood & Cancer, 2024
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
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_1.XLSX › P_or_LP_variants
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
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
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
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