Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
Musto E et al.
Epilepsia Open, 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
Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.
Calandrelli R et al.
Neuroradiology, 2022
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI et al.
Genes, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 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
The perinatal presentation of cardiofaciocutaneous syndrome.
Wong Ramsey KN et al.
American Journal of Medical Genetics. Part A, 2014
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
Abe Y et al.
American Journal of Medical Genetics. Part A, 2012
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
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A et al.
Human Mutation, 2009
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P et al.
Methods in Enzymology, 2008
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Narumi Y et al.
American Journal of Medical Genetics. Part A, 2007