Associated Papers
Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.
Keehan L et al.
American Journal of Medical Genetics. Part A, 2026
Clinical and molecular analysis of seventy-one fetal cases with RASopathies.
Yu QX et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models.
Kang M et al.
The Journal of Clinical Investigation, 2025
Base editing screens define the genetic landscape of cancer drug resistance mechanisms.
Coelho MA et al.
Nature Genetics, 2024
Pathways and targeting avenues of BRAF in non-small cell lung cancer.
Imyanitov EN et al.
Expert Opinion on Therapeutic Targets, 2024
RNF43 Inactivation Enhances the B-RAF/MEK Signaling and Creates a Combinatory Therapeutic Target in Cancer Cells.
Hsu SH et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
The Clinical, Genomic, and Transcriptomic Landscape of BRAF Mutant Cancers.
Kazandjian S et al.
Cancers, 2024
Comparative Genomic Analysis and Clinical Outcomes of BRAF-mutated Advanced Biliary Tract Cancers.
Tang TY et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Unique Spectrum of Activating BRAF Alterations in Prostate Cancer.
Chehrazi-Raffle A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report.
Alhalak R et al.
Cureus, 2023
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-mutations of epidermal growth factor receptor and BRAF in Chinese non-small cell lung cancer patients.
Peng P et al.
Annals of Translational Medicine, 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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.
Patterson VL et al.
Birth Defects Research, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.
Suzuki-Muromoto S et al.
Journal of Human Genetics, 2019
Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway.
Vogiatzi A et al.
Expert Reviews in Molecular Medicine, 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
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.
Pezzani L et al.
American Journal of Medical Genetics. Part A, 2018
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
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
Santoro C et al.
Bmc Medical Genetics, 2014
Clinical and molecular analysis of RASopathies in a group of Turkish patients.
Şimşek-Kiper PÖ et al.
Clinical Genetics, 2013
Ablation of BRaf impairs neuronal differentiation in the postnatal hippocampus and cerebellum.
Pfeiffer V et al.
Plos One, 2013
In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene.
Hussain MR et al.
Gene, 2012
Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
Aizaki K et al.
Brain & Development, 2011
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
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
Pierpont EI et al.
American Journal of Medical Genetics. Part A, 2010
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
Anastasaki C et al.
Human Molecular Genetics, 2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A et al.
Human Mutation, 2009
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM et al.
Journal of Medical Genetics, 2008
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL et al.
Clinical Genetics, 2008
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P et al.
Methods in Enzymology, 2008
Neurological complications of cardio-facio-cutaneous syndrome.
Yoon G et al.
Developmental Medicine and Child Neurology, 2007
Hyperactive Ras in developmental disorders and cancer.
Schubbert S et al.
Nature Reviews. Cancer, 2007
An unexpected new role of mutant Ras: perturbation of human embryonic development.
Kratz CP et al.
Journal of Molecular Medicine (berlin, Germany), 2007
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Niihori T et al.
Nature Genetics, 2006
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence.
Koudova M et al.
European Journal of Medical Genetics, 0