Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Comprehensive genomic profiling by liquid biopsy in refractory metastatic colorectal cancer patients who are candidate for anti-EGFR rechallenge therapy: findings from the CAVE-2 GOIM trial.
Ciardiello D et al.
Esmo Open, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.
Sierant MC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
BRAF mutant appendiceal adenocarcinoma differs from colorectal cancer but responds to BRAF-targeted therapy.
Pattalachinti VK et al.
Npj Precision Oncology, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
A compilation of 13 patients with metastatic colorectal cancer and concomitant BRAF and RAS family mutations.
Srivastav J et al.
Frontiers in Oncology, 2025
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N et al.
European Journal of Human Genetics : Ejhg, 2024
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.
Maloberti T et al.
Diagnostics (basel, Switzerland), 2024
Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.
Ou Y et al.
Frontiers in Pediatrics, 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
Next-Generation Sequencing Analysis of Mutations in Circulating Tumor DNA from the Plasma of Patients with Head-Neck Cancer Undergoing Chemo-Radiotherapy Using a Pan-Cancer Cell-Free Assay.
Koukourakis MI et al.
Current Oncology (toronto, Ont.), 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Improvement in neoantigen prediction via integration of RNA sequencing data for variant calling.
Nguyen BQT et al.
Frontiers in Immunology, 2023
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 2022
Spectrum of BRAF Aberrations and Its Potential Clinical Implications: Insights From Integrative Pan-Cancer Analysis.
Yi Q et al.
Frontiers in Bioengineering and Biotechnology, 2022
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
Meta-Analysis and Systematic Review of the Genomics of Mucosal Melanoma.
Broit N et al.
Molecular Cancer Research : Mcr, 2021
Clinical and molecular spectra of BRAF-associated RASopathy.
Lee Y et al.
Journal of Human Genetics, 2021
BRAF and DIS3 Mutations Associate with Adverse Outcome in a Long-term Follow-up of Patients with Multiple Myeloma.
Boyle EM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations.
Fischer CG et al.
Gastroenterology, 2019
Development, Implementation and Assessment of Molecular Diagnostics by Next Generation Sequencing in Personalized Treatment of Cancer: Experience of a Public Reference Healthcare Hospital.
Simarro J et al.
Cancers, 2019
Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.
Yang M et al.
Nature Communications, 2019
An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.
Okuzono S et al.
Brain & Development, 2019
Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer.
Aggarwal C et al.
Jama Oncology, 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
Exome-wide somatic mutation characterization of small bowel adenocarcinoma.
Hänninen UA et al.
Plos Genetics, 2018
Genetic variants in thyroid cancer distant metastases.
Justiniano SE et al.
Endocrine-related Cancer, 2016
Intratumoral KIT mutational heterogeneity and recurrent KIT/ PDGFRA mutations in KIT/PDGFRA wild-type gastrointestinal stromal tumors.
Gao J et al.
Oncotarget, 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
BRAF gene: From human cancers to developmental syndromes.
Hussain MR et al.
Saudi Journal of Biological Sciences, 2015
Association studies in thyroid cancer susceptibility: are we on the right track?
Landa I et al.
Journal of Molecular Endocrinology, 2011
Association studies in thyroid cancer susceptibility: are we on the right track?
Landa I et al.
Journal of Molecular Endocrinology, 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
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A et al.
Human Mutation, 2009