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
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
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
37883464 (PubMed )
Supplement: supplementary_tables_marked_edit_ddad181.xlsx › Supplementary_Table_3
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Weighted
An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.
Gossage L et al.
Human Molecular Genetics, 2014
24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp.docx
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
HIF pathway mutations and erythrocytosis.
McMullin MF
Expert Review of Hematology, 2010
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