Associated Papers
Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects.
Bose M et al.
The Journal of Clinical Investigation, 2025
40232841 (PubMed )
Supplement: jci-135-181879-s033.xlsx › Supplementary_Table_1
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.
Ramadane-Morchadi L et al.
American Journal of Human Genetics, 2025
40233743 (PubMed )
Supplement: mmc2.xlsx › Hoja1
DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.
Diabate M et al.
Plos Genetics, 2023
37578980 (PubMed )
Supplement: pgen.1010739.s005.xlsx › Sheet1
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T7
Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.
Özkan S et al.
International Journal of Molecular Sciences, 2021
34207612 (PubMed )
Supplement: ijms-22-06226-s001.zip › SUPP_FIGURES_TABLES › SupplementaryTable4.xlsx › supp_table4
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1
Overexpression of MUC1 and Genomic Alterations in Its Network Associate with Prostate Cancer Progression.
Lin X et al.
Neoplasia (new York, N.y.), 2017
RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.
Kato S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx
BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies.
Piva F et al.
Expert Review of Molecular Diagnostics, 2015
Structural insights into the U-box, a domain associated with multi-ubiquitination.
Ohi MD et al.
Nature Structural Biology, 2003
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