Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
40542191 (PubMed )
Supplement: 41431_2025_1896_MOESM1_ESM.xlsx › Sheet1
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
39422539 (PubMed )
Supplement: supplement_1.xlsx › Likely_causative_gene_variants
High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.
Yildiz S et al.
Molecular Biology Reports, 2025
40627234 (PubMed )
Supplement: 11033_2025_10750_MOESM4_ESM.xlsx › Supplementary_Table_4-6-7
Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes.
Dai D et al.
Bmc Genomics, 2024
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2021
A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.
Yang S et al.
Molecular Genetics & Genomic Medicine, 2020
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
Identification of MC1R SNPs and their Association with Plumage Colors in Asian Duck.
Sultana H et al.
The Journal of Poultry Science, 2017
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
Bademci G et al.
Scientific Reports, 2016
Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.
Wildhardt G et al.
Bmj Open, 2013
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