Associated Papers
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
Clinical, Morphological and Molecular Features of Spitz tumors.
Donati M et al.
Ceskoslovenska Patologie, 2024
Clinical, Morphologic, and Molecular Features of Benign and Intermediate-grade Melanocytic Tumors With Activating Mutations in MAP2K1.
Fumero-Velázquez M et al.
The American Journal of Surgical Pathology, 2023
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.
Crincoli E et al.
American Journal of Medical Genetics. Part A, 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
High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer.
Mizuno S et al.
Molecular Cancer Therapeutics, 2023
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
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.
Leoni C et al.
Orphanet Journal of Rare Diseases, 2021
A Melanoma-Tailored Next-Generation Sequencing Panel Coupled with a Comprehensive Analysis to Improve Routine Melanoma Genotyping.
Louveau B et al.
Targeted Oncology, 2020
Leveraging Systematic Functional Analysis to Benchmark an In Silico Framework Distinguishes Driver from Passenger MEK Mutants in Cancer.
Hanrahan AJ et al.
Cancer Research, 2020
Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.
Patterson VL et al.
Birth Defects Research, 2020
Establishment and Characterization of Four Novel Thyroid Cancer Cell Lines and PDX Models Expressing the RET/PTC1 Rearrangement, BRAFV600E, or RASQ61R as Drivers.
Schweppe RE et al.
Molecular Cancer Research : Mcr, 2019
Behavioral profile in RASopathies.
Alfieri P et al.
American Journal of Medical Genetics. Part A, 2014
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
Dentici ML et al.
European Journal of Human Genetics : Ejhg, 2009