Associated Papers
Genetic Landscape and Its Prognostic Impact in Children With Langerhans Cell Histiocytosis.
Wang CJ et al.
Archives of Pathology & Laboratory Medicine, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 2025
RAF inhibitor re-challenge therapy in BRAF-aberrant pan-cancers: the RE-RAFFLE study.
Nelson BE et al.
Molecular Cancer, 2024
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
A BRAF mutation-associated gene risk model for predicting the prognosis of melanoma.
Huang X et al.
Heliyon, 2023
BRAF v600E-mutant cancers treated with vemurafenib alone or in combination with everolimus, sorafenib, or crizotinib or with paclitaxel and carboplatin (VEM-PLUS) study.
Nelson BE et al.
Npj Precision Oncology, 2023
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Kenney-Jung DL et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
BRAFV600E;K601Q metastatic melanoma patient-derived organoids and docking analysis to predict the response to targeted therapy.
Porcelli L et al.
Pharmacological Research, 2022
Genomic Landscape, Clinical Features and Outcomes of Non-Small Cell Lung Cancer Patients Harboring BRAF Alterations of Distinct Functional Classes.
Di Federico A et al.
Cancers, 2022
Co-existence of BRAF V600E-mutated malignant melanoma and BRAF V600E-mutated Langerhans cell histiocytosis: A case report.
Goto K et al.
Journal of Cutaneous Pathology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Acetylation-dependent regulation of BRAF oncogenic function.
Dai X et al.
Cell Reports, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI et al.
Genes, 2021
Clinical and molecular spectra of BRAF-associated RASopathy.
Lee Y et al.
Journal of Human Genetics, 2021
Comorbidities associated with genetic abnormalities in children with intellectual disability.
Chen JS et al.
Scientific Reports, 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
Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database.
Owsley J et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Molecular and immunohistochemical analysis of BRAF gene in primary cutaneous melanoma: Discovery of novel mutations.
Fatnassi-Mersni G et al.
Journal of Cutaneous Pathology, 2020
Negative reactions of BRAF mutation-specific immunohistochemistry to non-V600E mutations of BRAF.
Seto K et al.
Pathology International, 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
Alterations in signaling pathways that accompany spontaneous transition to malignancy in a mouse model of BRAF mutant microsatellite stable colorectal cancer.
Kane AM et al.
Neoplasia (new York, N.y.), 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.
Yamaura T et al.
Oncotarget, 2018
BRAF and RAS Mutational Status in Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features and Invasive Subtype of Encapsulated Follicular Variant of Papillary Thyroid Carcinoma in Korea.
Kim M et al.
Thyroid : Official Journal of the American Thyroid Association, 2018
Beyond the BRAFV600E hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients.
Richtig G et al.
The British Journal of Dermatology, 2017
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
Challenging a dogma: co-mutations exist in MAPK pathway genes in colorectal cancer.
Grellety T et al.
Virchows Archiv : an International Journal of Pathology, 2016
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.
Kuentz P et al.
The Journal of Investigative Dermatology, 2016
Association of BRAF V600E Mutation and MicroRNA Expression with Central Lymph Node Metastases in Papillary Thyroid Cancer: A Prospective Study from Four Endocrine Surgery Centers.
Han PA et al.
Thyroid : Official Journal of the American Thyroid Association, 2016
NOTCH1, TP53, and MAP2K1 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma Are Associated With Progressive Disease.
Martinez D et al.
The American Journal of Surgical Pathology, 2016
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
Simultaneously Detection of 50 Mutations at 20 Sites in the BRAF and RAS Genes by Multiplexed Single-Nucleotide Primer Extension Assay Using Fine-Needle Aspirates of Thyroid Nodules.
Stence AA et al.
The Yale Journal of Biology and Medicine, 2015
NRAS (Q61R), BRAF (V600E) immunohistochemistry: a concomitant tool for mutation screening in melanomas.
Uguen A et al.
Diagnostic Pathology, 2015
Prospective immunohistochemical analysis of BRAF V600E mutation in melanoma.
Thiel A et al.
Human Pathology, 2015
Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.
Ciara E et al.
European Journal of Medical Genetics, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.
Brannon AR et al.
Genome Biology, 2014
Clinicopathological features of rare BRAF mutations in Korean thyroid cancer patients.
Cho U et al.
Journal of Korean Medical Science, 2014