Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A et al.
Hgg Advances, 2025
39663698 (PubMed )
Supplement: mmc3.pdf
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Choi HJ et al.
Genes & Genomics, 2023
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34230634 (PubMed )
Supplement: NIHMS1734674-supplement-Supplementary_Table_1.xlsx › _Suppl_Table_1
A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Zhang S et al.
Clinical and Translational Medicine, 2021
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Boudewyns A et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2018
Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
Siem G et al.
International Journal of Audiology, 2010
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY et al.
Human Mutation, 2009
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