Associated Papers
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
34663891 (PubMed )
Supplement: 41598_2021_99747_MOESM2_ESM.xlsx › Table-S1-modified
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32123317 (PubMed )
Supplement: 41436_2020_766_MOESM3_ESM.xlsx › Variant_summary
Association of Polymorphisms in Genes Involved in One-Carbon Metabolism with MTHFR Methylation Levels.
Coppedè F et al.
International Journal of Molecular Sciences, 2019
Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.
Clarke EV et al.
Familial Cancer, 2019
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.
Maxwell KN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
25503501 (PubMed )
Supplement: NIHMS641969-supplement-Supplementary_Table_1.xls › Sheet1
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