Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.
Shi Y et al.
Signal Transduction and Targeted Therapy, 2025
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.
Newman H et al.
Hemasphere, 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
A Pulmonary Nodule with an Unexpected Mutation Profile.
Sun L et al.
Clinical Chemistry, 2025
Clinicopathologic and genomic analyses of SMARCA4-mutated non-small cell lung carcinoma implicate the needs for tailored treatment strategies.
Ahn B et al.
Lung Cancer (amsterdam, Netherlands), 2025
Genomic Landscapes of Early-Onset Versus Average-Onset Colorectal Cancer Populations.
Storandt MH et al.
Cancers, 2025
BRAF mutant appendiceal adenocarcinoma differs from colorectal cancer but responds to BRAF-targeted therapy.
Pattalachinti VK et al.
Npj Precision Oncology, 2025
BRAF Deletion in Adult Patients with Langerhans Cell Histiocytosis Correlates with Multisystem Disease and Poor Outcomes.
Lang M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
The Clinical, Genomic, and Transcriptomic Landscape of BRAF Mutant Cancers.
Kazandjian S et al.
Cancers, 2024
Efficacy of osimertinib and the role of sequential liquid biopsy in patients diagnosed with NSCLC harboring EGFR and BRAF mutations at baseline: insights from two case reports.
Bao LC et al.
Frontiers in Oncology, 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
Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M et al.
Orphanet Journal of Rare Diseases, 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
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF et al.
Nature Communications, 2023
The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.
Vo JN et al.
Nature Communications, 2022
Systematic review and meta-analysis of genomic alterations in acral melanoma.
Broit N et al.
Pigment Cell & Melanoma Research, 2022
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
Chevrier S et al.
International Journal of Molecular Medicine, 2022
Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients.
Diaz Coronado RY et al.
Cancer, 2022
Frequency and Clinicopathological Characteristics of Patients With KRAS/BRAF Double-Mutant Colorectal Cancer: An In Silico Study.
Uchida S et al.
Pathology Oncology Research : Por, 2022
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI et al.
Genes, 2021
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
Clinical and molecular spectra of BRAF-associated RASopathy.
Lee Y et al.
Journal of Human Genetics, 2021
Assessment of RAS Dependency for BRAF Alterations Using Cancer Genomic Databases.
Zhao Y et al.
Jama Network Open, 2021
Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.
Li DY et al.
Frontiers in Oncology, 2021
Retrospective Case Series Analysis of RAF Family Alterations in Pancreatic Cancer: Real-World Outcomes From Targeted and Standard Therapies.
Hendifar A et al.
Jco Precision Oncology, 2021
Oncogenic mutations within the β3-αC loop of EGFR/ERBB2/BRAF/MAP2K1 predict response to therapies.
Zhang B et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Genetic alterations in primary melanoma in Taiwan.
Sheen YS et al.
The British Journal of Dermatology, 2020
DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.
Mithraprabhu S et al.
Cancers, 2019
Mutations in the RAS-BRAF-MAPK-ERK pathway define a specific subgroup of patients with adverse clinical features and provide new therapeutic options in chronic lymphocytic leukemia.
Giménez N et al.
Haematologica, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 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
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.
Wang Y et al.
Frontiers in Oncology, 2019
The prognostic effects of somatic mutations in ER-positive breast cancer.
Griffith OL et al.
Nature Communications, 2018
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Nadeu F et al.
Leukemia, 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
Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.
Hassan MM et al.
Advances in Bioinformatics, 2016
RASopathies: Clinical Diagnosis in the First Year of Life.
Digilio MC et al.
Molecular Syndromology, 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
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A et al.
Human Mutation, 2009