Associated Papers
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.
Bess J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk.
Bess J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
RASopathies and cardiac manifestations.
Hilal N et al.
Frontiers in Cardiovascular Medicine, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Precision drugging of the MAPK pathway in head and neck cancer.
Ngan HL et al.
Npj Genomic Medicine, 2022
Long term follow-up of a phase II study of cladribine with concurrent rituximab with hairy cell leukemia variant.
Chihara D et al.
Blood Advances, 2021
KIT/PDGFRA/KDR amplification defines a novel molecular subtype of adenoid cystic carcinoma patients who may benefit from treatment with tyrosine kinase inhibitors.
Hou H et al.
Translational Cancer Research, 2020
Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.
Hamid AB et al.
Cancers, 2020
Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.
Hartman ML et al.
Cells, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.
Gos M et al.
American Journal of Medical Genetics. Part A, 2018
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
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pierpont ME et al.
Pediatrics, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
MEK genomics in development and disease.
Bromberg-White JL et al.
Briefings in Functional Genomics, 2012
Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.
Pommier SJ et al.
Annals of Surgical Oncology, 2012
Identification of the MEK1(F129L) activating mutation as a potential mechanism of acquired resistance to MEK inhibition in human cancers carrying the B-RafV600E mutation.
Wang H et al.
Cancer Research, 2011
Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
Siegel DH et al.
The British Journal of Dermatology, 2011
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
Rauen KA et al.
American Journal of Medical Genetics. Part A, 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
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
Dentici ML et al.
European Journal of Human Genetics : Ejhg, 2009
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM et al.
Journal of Medical Genetics, 2008
IGF signaling defects as causes of growth failure and IUGR.
Klammt J et al.
Trends in Endocrinology and Metabolism: Tem, 2008
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
Senawong T et al.
Human Molecular Genetics, 2008
The cardiofaciocutaneous syndrome: prenatal findings in two patients.
Witters I et al.
Prenatal Diagnosis, 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
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
Rodriguez-Viciana P et al.
Science (new York, N.y.), 2006