Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.
Mateu-Regué À et al.
Scientific Reports, 2026
Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J et al.
Human Genetics, 2025
38170232 (PubMed )
Supplement: 439_2023_2624_MOESM2_ESM.xlsx › SupplementaryTable1
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
38368609 (PubMed )
Supplement: NIHMS1970903-supplement-3.xlsx › Table_S2
Clinical phenotypes combined with saturation genome editing identifying the pathogenicity of BRCA1 variants of uncertain significance in breast cancer.
Wan Q et al.
Familial Cancer, 2021
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