Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.
Bess J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
The somatic mutation landscape of normal gastric epithelium.
Coorens THH et al.
Nature, 2025
Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.
Zuriaga MA et al.
European Heart Journal, 2024
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
Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a retrospective study.
Ahamed H et al.
Archives of Disease in Childhood, 2024
A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk.
Bess J et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Serbinski CR et al.
American Journal of Medical Genetics. Part A, 2024
The spectrum of MAPK-ERK pathway genomic alterations in gynecologic malignancies: Opportunities for novel therapeutic approaches.
Nasioudis D et al.
Gynecologic Oncology, 2023
Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.
Yu Z et al.
The Journal of Clinical Investigation, 2023
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 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
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 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
Analysis of the clinical characteristics and prognosis of adult de novo acute myeloid leukemia (none APL) with PTPN11 mutations.
Sheng L et al.
Open Medicine (warsaw, Poland), 2023
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Kar SP et al.
Nature Genetics, 2022
The longitudinal dynamics and natural history of clonal haematopoiesis.
Fabre MA et al.
Nature, 2022
Classification of KRAS-Activating Mutations and the Implications for Therapeutic Intervention.
Johnson C et al.
Cancer Discovery, 2022
Craniosynostosis is a feature of Costello syndrome.
Weaver KN et al.
American Journal of Medical Genetics. Part A, 2022
KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.
Vendramini E et al.
Cancers, 2022
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
Nagai K et al.
Human Mutation, 2022
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.
Engler M et al.
Mechanisms of Ageing and Development, 2021
Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.
Hong TH et al.
Journal for Immunotherapy of Cancer, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.
Akahoshi S et al.
American Journal of Medical Genetics. Part A, 2020
A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.
Wang N et al.
Bmc Gastroenterology, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
Shoji Y et al.
Endocrine Journal, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Koh AL et al.
Molecular Genetics & Genomic Medicine, 2019
PTPN11 Plays Oncogenic Roles and Is a Therapeutic Target for BRAF Wild-Type Melanomas.
Hill KS et al.
Molecular Cancer Research : Mcr, 2019
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M et al.
Endocrine Reviews, 2018
Mutation status and prognostic values of KRAS, NRAS, BRAF and PIK3CA in 353 Chinese colorectal cancer patients.
Guo F et al.
Scientific Reports, 2018
Next-Generation Sequencing Identifies Gene Mutations That Are Predictive of Malignancy in Residual Needle Rinses Collected From Fine-Needle Aspirations of Thyroid Nodules.
Fuller MY et al.
Archives of Pathology & Laboratory Medicine, 2018
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
Ueda K et al.
American Journal of Medical Genetics. Part A, 2017
Molecular signaling in multiple myeloma: association of RAS/RAF mutations and MEK/ERK pathway activation.
Xu J et al.
Oncogenesis, 2017
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 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