Associated Papers
Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.
Poon JYY et al.
American Journal of Medical Genetics. Part A, 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
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Li X et al.
Human Genetics, 2023
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
Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
36568077 (PubMed )
Supplement: DataSheet_1.pdf
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Powis Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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