Associated Papers
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.
Huang S et al.
Gene Therapy, 2022
Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.
Yu X et al.
Neural Plasticity, 2020
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.
Suzuki N et al.
Bmc Pediatrics, 2018
29792164 (PubMed )
Supplement: 12887_2018_1139_MOESM5_ESM.docx
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D et al.
European Journal of Endocrinology, 2018
29419413 (PubMed )
Supplement: eje-178-377-t002.pdf
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
Bademci G et al.
Scientific Reports, 2016
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