Associated Papers
Lymphoid enhancer-binding factor 1 (LEF1) immunostaining as a surrogate for β-catenin (CTNNB1) mutations.
Hewer E et al.
Journal of Clinical Pathology, 2025
Clinical impact of single-gene vs. panel sequencing in advanced HR + /HER2- breast cancer: insights and implications.
Klocker EV et al.
Npj Breast Cancer, 2025
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings.
Lin HF et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Langerhans Cell Histiocytosis With MAP2K1E102_I103del Mutation Successfully Treated With Trametinib.
Lang M et al.
Ejhaem, 2025
Artificial intelligence-driven microsatellite instability profiling reveals distinctive genetic features in patients with lung cancer.
Thomas QD et al.
Cancer, 2025
Effects of F53 hotspot mutations on the molecular dynamics of MEK1 protein and the binding of its FDA-approved inhibitors.
Vural BE et al.
International Journal of Biological Macromolecules, 2025
Comprehensive Genomic Profiling of Indian Patients With Lung Cancer.
Sharma S et al.
Jco Global Oncology, 2025
Clinical outcomes and genomic profiles of MAP2K1-mutated primary cutaneous melanocytic tumours.
Ebbelaar CF et al.
Ebiomedicine, 2025
Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.
Vasquez YA et al.
Npj Precision Oncology, 2025
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers.
Garrido J et al.
Bmc Cancer, 2024
Proband-independent haplotyping based on NGS-based long-read sequencing for detecting pathogenic variant carrier status in preimplantation genetic testing for monogenic diseases.
Zhang P et al.
Frontiers in Molecular Biosciences, 2024
MEK inhibitors in cancer treatment: structural insights, regulation, recent advances and future perspectives.
Ram T et al.
Rsc Medicinal Chemistry, 2023
Evolutionary history of MEK1 illuminates the nature of deleterious mutations.
Andrianova EP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Driver and targetable alterations in Chinese patients with small bowel carcinoma.
Li J et al.
Journal of Cancer Research and Clinical Oncology, 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
Spatial transcriptomics reveal topological immune landscapes of Asian head and neck angiosarcoma.
Loh JW et al.
Communications Biology, 2023
Rare molecular subtypes of lung cancer.
Harada G et al.
Nature Reviews. Clinical Oncology, 2023
Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.
Ito T et al.
Scientific Reports, 2023
High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.
Mizuno S et al.
Molecular Cancer Therapeutics, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Case report: Clinicopathological and molecular characteristics of pediatric-type follicular lymphoma.
Ren B et al.
Frontiers in Pediatrics, 2023
Diagnostic value of genetic mutation analysis and mutation profiling of cell-free DNA in intraocular fluid for vitreoretinal lymphoma.
Chen X et al.
Cancer Communications (london, England), 2022
RAF-MEK-ERK pathway in cancer evolution and treatment.
Ullah R et al.
Seminars in Cancer Biology, 2022
A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.
Wang X et al.
Haematologica, 2022
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
Qualitative differences in disease-associated MEK mutants reveal molecular signatures and aberrant signaling-crosstalk in cancer.
Kubota Y et al.
Nature Communications, 2022
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Ultrasensitive analysis of genetic instability related to chemical exposure.
Domoradzki T et al.
Journal of Applied Genetics, 2022
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
Chevrier S et al.
International Journal of Molecular Medicine, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Molecular and Radiological Features of Microsatellite Stable Colorectal Cancer Cases With Dramatic Responses to Immunotherapy.
Keenan BP et al.
Anticancer Research, 2021
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa.
Ekure EN et al.
Circulation. Genomic and Precision Medicine, 2021
Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.
Williams EA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.
Patterson VL et al.
Birth Defects Research, 2020
Noonan syndrome on the African Continent.
Tekendo-Ngongang C et al.
Birth Defects Research, 2020
Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.
Boot A et al.
Genome Research, 2020
The extended spectrum of RAS-MAPK pathway mutations in colorectal cancer.
Costigan DC et al.
Genes, Chromosomes & Cancer, 2020
Clinicopathological characteristics and genetic analysis of pulmonary carcinoid tumors: A single-center retrospective cohort study and literature review.
Li X et al.
Oncology Letters, 2020
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E et al.
Clinical Genetics, 2020
Retrospective analysis of clinical phenotype and prognosis of hypertrophic cardiomyopathy complicated with hypertension.
Luo Q et al.
Scientific Reports, 2020