Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table5.xlsx › Patient_by_Patient_variants
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5
Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families.
Boujemaa M et al.
Frontiers in Genetics, 2024
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Tabansky I et al.
Frontiers in Immunology, 2022
36268024 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_1
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Vikova V et al.
Theranostics, 2019
30809292 (PubMed )
Supplement: thnov09p0540s1.pdf
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Tessoulin B et al.
Journal of Hematology & Oncology, 2018
30545397 (PubMed )
Supplement: 13045_2018_679_MOESM3_ESM.pdf
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
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