Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Clonal Progression of a DNA Polymerase Epsilon-Mutant Endometrial Cancer With Immune Evasion Characteristics and Metastasis.
Fan R et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2026
Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.
Terashima Y et al.
Cancer Science, 2025
40734624 (PubMed )
Supplement: CAS-116-2868-s002.xlsx › Table_S3
RAS and SHOC2 Roles in RAF Activation and Therapeutic Considerations.
Bonsor DA et al.
Annual Review of Cancer Biology, 2024
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.
Crincoli E et al.
American Journal of Medical Genetics. Part A, 2023
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.
Feng B et al.
Orphanet Journal of Rare Diseases, 2023
RASopathy mutations provide functional insight into the BRAF cysteine-rich domain and reveal the importance of autoinhibition in BRAF regulation.
Spencer-Smith R et al.
Molecular Cell, 2022
RASopathy mutations open new insights into the mechanism of BRAF activation.
Dar AC et al.
Molecular Cell, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.
Lim CS et al.
Genes & Development, 2017
28404629 (PubMed )
Supplement: supp_31.6.537_Supplemental_Materials.pdf
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › BRAF.Ion
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL et al.
Clinical Genetics, 2008
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