Associated Papers
Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.
Lin PH et al.
Clinical and Experimental Otorhinolaryngology, 2025
Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.
Neal SJ et al.
Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A et al.
Clinical Genetics, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Hoskins BE et al.
American Journal of Human Genetics, 2007
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