Associated Papers
Nucleotide Substitution Biases in Related Cancer Driver Genes.
Khadre A et al.
International Journal of Molecular Sciences, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Genetic Ancestry and Lung Cancer in Latin American Patients: A Crucial Step for Understanding a Diverse Population.
Castañeda-González JP et al.
Clinical Lung Cancer, 2025
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer.
Adorisio R et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
Comprehensive structure-function analysis reveals gain- and loss-of-function mechanisms impacting oncogenic KRAS activity.
Kwon JJ et al.
Biorxiv : the Preprint Server for Biology, 2024
Single nucleotide variants in lung cancer.
Tian X et al.
Chinese Medical Journal Pulmonary and Critical Care Medicine, 2024
Increased KRAS G12C Prevalence, High Tumor Mutational Burden, and Specific Mutational Signatures Are Associated With MUTYH Mutations: A Pan-Cancer Analysis.
Disel U et al.
The Oncologist, 2024
The spectrum of MAPK-ERK pathway genomic alterations in gynecologic malignancies: Opportunities for novel therapeutic approaches.
Nasioudis D et al.
Gynecologic Oncology, 2023
High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
Hernandez PV et al.
American Journal of Medical Genetics. Part A, 2023
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
In Silico Analysis of nsSNPs of Human KRAS Gene and Protein Modeling Using Bioinformatic Tools.
Xu D et al.
Acs Omega, 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
Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.
Cao Y et al.
Genetics in Medicine Open, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
A Rare Case of Diffuse-type Tenosynovial Giant Cell Tumor in a Teenager With Noonan Syndrome.
Guiffre D et al.
Journal of Pediatric Hematology/oncology, 2022
Integrated genotype-phenotype analysis of long-term epilepsy-associated ganglioglioma.
Wang Y et al.
Brain Pathology (zurich, Switzerland), 2022
Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics.
Tripathi S et al.
Computational and Structural Biotechnology Journal, 2022
Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.
Engler M et al.
Mechanisms of Ageing and Development, 2021
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Pauta M et al.
Fetal Diagnosis and Therapy, 2021
Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.
Sudduth CL et al.
Clinical Genetics, 2020
Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.
Zivanovic Bujak A et al.
Plos Medicine, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Spectrum of driver mutations and clinical impact of circulating tumor DNA analysis in non-small cell lung cancer: Analysis of over 8000 cases.
Mack PC et al.
Cancer, 2020
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.
Dunnett-Kane V et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2020
Atypical RAS Mutations in Metastatic Colorectal Cancer.
Pietrantonio F et al.
Jco Precision Oncology, 2019
Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.
Goss JA et al.
Angiogenesis, 2019
Challenges of Providing Concordant Interpretation of Somatic Variants in Non-Small Cell Lung Cancer: A Multicenter Study.
Gao P et al.
Journal of Cancer, 2019
Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.
van Trier DC et al.
European Journal of Pediatrics, 2018
KRAS G12C mutation as a poor prognostic marker of pemetrexed treatment in non-small cell lung cancer.
Park S et al.
The Korean Journal of Internal Medicine, 2017
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.
Alakus H et al.
Genome Medicine, 2014
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.
Nosan G et al.
Croatian Medical Journal, 2013
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.
Timeus F et al.
Oncology Reports, 2013
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
Gremer L et al.
Human Mutation, 2011
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.
Lo FS et al.
European Journal of Pediatrics, 2009
An unexpected new role of mutant Ras: perturbation of human embryonic development.
Kratz CP et al.
Journal of Molecular Medicine (berlin, Germany), 2007
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M et al.
Journal of Medical Genetics, 2007