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
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Distinct mutational features across preinvasive and invasive subtypes identified through comprehensive profiling of surgically resected lung adenocarcinoma.
Xiang C et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
35641658 (PubMed )
Supplement: 41379_2022_1076_MOESM1_ESM.pdf
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Clinical and molecular spectra of BRAF-associated RASopathy.
Lee Y et al.
Journal of Human Genetics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Alterations in signaling pathways that accompany spontaneous transition to malignancy in a mouse model of BRAF mutant microsatellite stable colorectal cancer.
Kane AM et al.
Neoplasia (new York, N.y.), 2020
31935636 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Unusual hair findings in a child with cardiofaciocutaneous syndrome.
Işikay S et al.
International Journal of Dermatology, 2019
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
Mutation Yield of a 34-Gene Solid Tumor Panel in Community-Based Tumor Samples.
Sanders H et al.
Molecular Diagnosis & Therapy, 2016
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P et al.
Methods in Enzymology, 2008
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C et al.
Journal of Medical Genetics, 2007
Neurological complications of cardio-facio-cutaneous syndrome.
Yoon G et al.
Developmental Medicine and Child Neurology, 2007
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