Associated Papers
ATM aberrations in chronic lymphocytic leukemia: del(11q) rather than ATM mutations is an adverse-prognostic biomarker.
Thorvaldsdottir B et al.
Leukemia, 2025
40275070 (PubMed )
Supplement: 41375_2025_2615_MOESM2_ESM.xlsx › Supplemental_Table_S3
Computational Analysis of Non-synonymous SNPs in ATM Kinase: Structural Insights, Functional Implications, and Inhibitor Discovery.
Panchal NK et al.
Molecular Biotechnology, 2025
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 2021
33395407 (PubMed )
Supplement: pone.0244948.s001.pdf
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars.
Canson D et al.
Human Mutation, 2020
Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.
De Falco V et al.
Esmo Open, 2020
32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM3_ESM.xlsx › supplementary_3_filtered
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
ATM mutations in sporadic lymphoid tumours.
Stankovic T et al.
Leukemia & Lymphoma, 2002
Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia.
Vorechovský I et al.
Nature Genetics, 1997
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