Associated Papers
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2025
40585303 (PubMed )
Supplement: lqaf087_supplemental_files.zip › supplementary_table_3.pdf
The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
Zeng L et al.
Molecular Genetics & Genomic Medicine, 2024
Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.
Shao Q et al.
Frontiers in Genetics, 2024
Mice Overexpressing Wild-Type RRAS2 Are a Novel Model for Preclinical Testing of Anti-Chronic Lymphocytic Leukemia Therapies.
Hortal AM et al.
Cancers, 2023
Characterization of mutant versions of the R-RAS2/TC21 GTPase found in tumors.
Clavaín L et al.
Oncogene, 2023
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
Tartaglia M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
The RASopathies: from pathogenetics to therapeutics.
Hebron KE et al.
Disease Models & Mechanisms, 2022
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.
Tripathi S et al.
Bioinformatics (oxford, England), 2021
33226070 (PubMed )
Supplement: btaa972_supplementary_data.zip › RAS_Manuscript_RMarkdown.tar.gz › RAS_Manuscript1.Revised › RAS_Variants_Scores.xlsx › Sheet1
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Capri Y et al.
American Journal of Human Genetics, 2019
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