Associated Papers
Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation.
Gong W et al.
Scientific Reports, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.
Zhou Z et al.
Biomedical Reports, 2025
Clinical application of preimplantation genetic testing based on low-coverage next-generation sequencing with linkage analyses in hereditary hearing loss families.
Wang W et al.
Journal of Assisted Reproduction and Genetics, 2025
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.
Xiao Y et al.
Genetic Testing and Molecular Biomarkers, 2025
Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.
Li K et al.
Scientific Reports, 2024
Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.
Yamamoto K et al.
Pigment Cell & Melanoma Research, 2024
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.
Li X et al.
Human Genetics, 2023
De novo variants are a common cause of genetic hearing loss.
Klimara MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Wang G et al.
Human Genetics, 2022
[Application of next generation sequencing in 3 Waardenburg syndrome].
Xu B et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2021
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2021
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
Zardadi S et al.
Bmc Pediatrics, 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
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
Wang L et al.
Molecular Medicine Reports, 2018
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
George A et al.
American Journal of Human Genetics, 2016
Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.
Cortés-González V et al.
American Journal of Medical Genetics. Part A, 2016
A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.
Shi Y et al.
Experimental and Therapeutic Medicine, 2016
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
Yang S et al.
Plos One, 2013
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
Léger S et al.
European Journal of Human Genetics : Ejhg, 2012