Associated Papers
Establishment and characterization of a novel sinonasal adenosquamous carcinoma cell line, TC717, with a high tumor mutational burden.
Kuga R et al.
Human Cell, 2026
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.
Crincoli E et al.
American Journal of Medical Genetics. Part A, 2023
Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.
Huang Z et al.
Jama Network Open, 2023
Polymorphisms at site 469 of B-RAF protein associated with skin melanoma may be correlated with dabrafenib resistance: An in silico study.
Chatterjee S et al.
Journal of Biomolecular Structure & Dynamics, 2022
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI et al.
Genes, 2021
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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.
Lim CS et al.
Genes & Development, 2017
The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.
Kiel C et al.
Elife, 2016
Behavioral profile in RASopathies.
Alfieri P et al.
American Journal of Medical Genetics. Part A, 2014
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.
Tartaglia M et al.
Annals of the New York Academy of Sciences, 2010
Noonan syndrome: clinical aspects and molecular pathogenesis.
Tartaglia M et al.
Molecular Syndromology, 2010
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A et al.
Human Mutation, 2009
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2007