Associated Papers
Genetics of Waardenburg Syndrome in Africa: A Systematic Review.
Aboagye ET et al.
International Journal of Molecular Sciences, 2025
Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.
Hou F et al.
Molecular Genetics & Genomic Medicine, 2025
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S et al.
Bmc Medical Genomics, 2022
36329483 (PubMed )
Supplement: 12920_2022_1379_MOESM4_ESM.pdf
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1
Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Wang G et al.
Human Genetics, 2022
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