Associated Papers
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S7
The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.
Vanzo RJ et al.
Journal of Personalized Medicine, 2020
33383702 (PubMed )
Supplement: jpm-11-00021-s001.zip › S1-Detailed_Sequence_Variant_Spreadsheet.xlsx › Supplementary_Table_S1
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
Hilgert N et al.
European Journal of Human Genetics : Ejhg, 2008
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