Associated Papers
Effects of higher-than-expected control population allele frequency on classification of loss-of-function variants in cancer susceptibility genes.
Smith MJ et al.
Journal of Medical Genetics, 2025
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
37436963 (PubMed )
Supplement: noad121_suppl_supplementary_tables.xlsx › Table_S2
Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV et al.
Journal of Medical Genetics, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Guo H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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