Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls
2019 · European Journal of Human Genetics · 68 citations
https://doi.org/10.1038/s41431-019-0510-6
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Shasha Huang
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Shasha Huang is an academic researcher from Ministry of Education of the People's Republic of China. The author has contributed to research in topics: Hearing, Cochlea, Tinnitus, Genetics & Vestibular and auditory disorders & Ear Surgery and Otitis Media. The author has an h-index of 24, co-authored 116 publications.
ORCID: 0000-0001-9324-0078Papers by this author
worksExtremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct
2011 · Journal of Translational Medicine · 57 citations
https://doi.org/10.1186/1479-5876-9-167
Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
2010 · Journal of Translational Medicine · 38 citations
https://doi.org/10.1186/1479-5876-8-127
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
2022 · Journal of Human Genetics · 37 citations
https://doi.org/10.1038/s10038-022-01066-5
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
2013 · Journal of Translational Medicine · 30 citations
https://doi.org/10.1186/1479-5876-11-284
Variant analysis of 92 Chinese Han families with hearing loss
2022 · BMC Medical Genomics · 16 citations
https://doi.org/10.1186/s12920-022-01158-3
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