Associated Papers
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing.
Zhang L et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 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
Molecular etiology study of hearing loss in 13 Chinese Han families.
Sun L et al.
Frontiers in Neurology, 2022
Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.
Zeng B et al.
Frontiers in Genetics, 2022
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Cabanillas R et al.
Bmc Medical Genomics, 2018
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
Wang L et al.
Molecular Medicine Reports, 2018
Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome.
Brenner L et al.
Genetic Testing and Molecular Biomarkers, 0
Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.
Elander J et al.
Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 0
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