Associated Papers
Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.
Zhang X et al.
Pediatric Rheumatology Online Journal, 2023
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
34593925 (PubMed )
Supplement: 41598_2021_99007_MOESM1_ESM.xlsx › Table_S1
Targeted next-generation sequencing of deaf patients from Southwestern China.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2021
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