Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.
Lee M et al.
Human Genomics, 2023
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.
Lee M et al.
Npj Genomic Medicine, 2022
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory.
Lai THT et al.
Healthcare (basel, Switzerland), 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
A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.
Wells C et al.
European Journal of Medical Genetics, 2016
Select a paper to view details