Associated Papers
Genetics of Waardenburg Syndrome in Africa: A Systematic Review.
Aboagye ET et al.
International Journal of Molecular Sciences, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.
Wallen ZD et al.
Frontiers in Genetics, 2025
A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.
Zhan L et al.
Frontiers in Genetics, 2025
Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.
Halik A et al.
Journal of Hematology & Oncology, 2024
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
Lee CY et al.
Molecular Genetics & Genomic Medicine, 2022
Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Wang G et al.
Human Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Comprehensive analysis of syndromic hearing loss patients in Japan.
Ideura M et al.
Scientific Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
Liu Y et al.
Plos One, 2019
Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome.
Wu TF et al.
The Journal of Biological Chemistry, 2015
Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.
Xiao Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2011
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
Chen H et al.
Biochemical and Biophysical Research Communications, 2010
Review and update of mutations causing Waardenburg syndrome.
Pingault V et al.
Human Mutation, 2010
A cascade of genes related to Waardenburg syndrome.
Tachibana M
The Journal of Investigative Dermatology. Symposium Proceedings, 1999
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL et al.
Human Genetics, 1998