Associated Papers
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
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
RAS and SHOC2 Roles in RAF Activation and Therapeutic Considerations.
Bonsor DA et al.
Annual Review of Cancer Biology, 2024
Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.
Chen Q et al.
Heliyon, 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
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
RASopathy mutations provide functional insight into the BRAF cysteine-rich domain and reveal the importance of autoinhibition in BRAF regulation.
Spencer-Smith R et al.
Molecular Cell, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic >KRAS Variation.
Demir S et al.
Molecular Syndromology, 2022
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
Sun L et al.
Frontiers in Genetics, 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
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
Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.
Patterson VL et al.
Birth Defects Research, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 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
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Wu-Chou YH et al.
Journal of Biomedical Science, 2018
Case report: Left ventricular noncompaction cardiomyopathy and RASopathies.
Sublett JA et al.
European Journal of Medical Genetics, 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
Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).
Zhang J et al.
Molecular Medicine Reports, 2016
Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.
Hassan MM et al.
Advances in Bioinformatics, 2016
Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.
Croonen EA et al.
Molecular Syndromology, 2013
Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndrome.
Wen C et al.
Biomedical Optics Express, 2013
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
Ohtake A et al.
Journal of Pediatric Hematology/oncology, 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
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Denayer E et al.
Genes, Chromosomes & Cancer, 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
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C et al.
Journal of Medical Genetics, 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
Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.
Morice-Picard F et al.
Pediatric Dermatology, 0