Associated Papers
RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.
Bonetti E et al.
Human Genomics, 2025
Epigenetic MLH1 silencing concurs with mismatch repair deficiency in sporadic, naturally occurring colorectal cancer in rhesus macaques.
Deycmar S et al.
Journal of Translational Medicine, 2024
Beyond Structural Bioinformatics for Genomics with Dynamics Characterization of an Expanded KRAS Mutational Landscape.
Ratnasinghe BD et al.
Biorxiv : the Preprint Server for Biology, 2023
Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape.
Ratnasinghe BD et al.
Computational and Structural Biotechnology Journal, 2023
Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.
Georgoulias G et al.
Frontiers in Immunology, 2022
Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population With Non-small Cell Lung Cancer.
Kahraman Çetin N et al.
Balkan Medical Journal, 2021
KRAS G12C mutations in Asia: a landscape analysis of 11,951 Chinese tumor samples.
Loong HH et al.
Translational Lung Cancer Research, 2020
New genetic variations discovered in KRAS wild-type cetuximab resistant chinese colorectal cancer patients.
Jing C et al.
Molecular Carcinogenesis, 2020
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2019
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.
Newell F et al.
Nature Communications, 2019
Primary malignant melanoma of esophagus: clinicopathologic characterization of 20 cases including molecular genetic profiling of 15 tumors.
Lasota J et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Identification of diverse activating mutations of the RAS-MAPK pathway in histiocytic sarcoma.
Shanmugam V et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
Temko D et al.
The Journal of Pathology, 2018
Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome.
Maletzki C et al.
Molecular Carcinogenesis, 2017
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.
Wey M et al.
Biochemistry, 2013
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008