Associated Papers
Genetics of Waardenburg Syndrome in Africa: A Systematic Review.
Aboagye ET et al.
International Journal of Molecular Sciences, 2025
The Diverse Genetic Landscape of Hearing Impairment in South African Families.
Bharadwaj T et al.
Clinical Genetics, 2025
Multidimensional Molecular Profiling of Metastatic Triple-Negative Breast Cancer and Immune Checkpoint Inhibitor Benefit.
Barroso-Sousa R et al.
Jco Precision Oncology, 2022
35797509 (PubMed )
Supplement: DS.PO.21.00413.xlsx › Supp_Table_S2
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM12_ESM.xlsx › Paralogs
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.
Sotirova VN et al.
Ophthalmic Genetics, 2000
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