Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 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
Distinct genomic profile of pediatric lung carcinoma: High frequency of ALK fusions and TP53 mutations compared to adults.
Abele M et al.
Lung Cancer (amsterdam, Netherlands), 2025
Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.
Umeda M et al.
Blood, 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
Clinical characteristics of EGFR-ctDNA shedders in EGFR-mutant NSCLC patients.
Ruglioni M et al.
Translational Oncology, 2025
BRAF V600E and Non-V600E Mutations in RAS Wild-Type Metastatic Colorectal Cancer: Prognostic and Therapeutic Insights from a Nationwide, Multicenter, Observational Study (J-BROS).
Taniguchi H et al.
Cancers, 2025
Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.
Umeda M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Transdifferentiation of Multiple Myeloma into Histiocytic Sarcoma: Case Report of a Highly Unusual Phenomenon.
Seth N et al.
Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Di Majo BE et al.
Frontiers in Immunology, 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
Allosteric activation of the co-receptor BAK1 by the EFR receptor kinase initiates immune signaling.
Mühlenbeck H et al.
Elife, 2024
Liquid biopsy-based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results.
Mata DA et al.
Histopathology, 2024
Allosteric activation of the co-receptor BAK1 by the EFR receptor kinase initiates immune signaling.
Mühlenbeck H et al.
Biorxiv : the Preprint Server for Biology, 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
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.
Crincoli E et al.
American Journal of Medical Genetics. Part A, 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
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
BRAFΔβ3-αC in-frame deletion mutants differ in their dimerization propensity, HSP90 dependence, and druggability.
Lauinger M et al.
Science Advances, 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
RAS-independent ERK activation by constitutively active KSR3 in non-chordate metazoa.
Chessel A et al.
Nature Communications, 2023
Pathogenic genomic alterations in Chinese pancreatic cancer patients and their therapeutical implications.
Zhao Z et al.
Cancer Medicine, 2023
Tumor-Type Agnostic, Targeted Therapies: BRAF Inhibitors Join the Group.
Vranic S et al.
Acta Medica Academica, 2022
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
The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.
Vo JN et al.
Nature Communications, 2022
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
Expanding the Molecular Genetic Spectrum of Bone and Soft Tissue Fibrosarcomas: An Institutional Experience.
Leckey BD et al.
International Journal of Surgical Pathology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.
Calandrelli R et al.
Neuroradiology, 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
Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.
Georgoulias G et al.
Frontiers in Immunology, 2022
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI et al.
Genes, 2021
Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma.
Penning AJ et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
BRN2 is a non-canonical melanoma tumor-suppressor.
Hamm M et al.
Nature Communications, 2021
The stability of R-spine defines RAF inhibitor resistance: A comprehensive analysis of oncogenic BRAF mutants with in-frame insertion of αC-β4 loop.
Yap J et al.
Science Advances, 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
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
Spectrum of driver mutations and clinical impact of circulating tumor DNA analysis in non-small cell lung cancer: Analysis of over 8000 cases.
Mack PC et al.
Cancer, 2020
Tumor Location Is Associated With the Prevalence of Braf And Pik3ca Mutations in Patients with Wild-Type Ras Colorectal Cancer: A Prospective Multi-Center Cohort Study in Japan.
Taniguchi H et al.
Translational Oncology, 2020
Response to Anti-EGFR Therapy in Patients with BRAF non-V600-Mutant Metastatic Colorectal Cancer.
Yaeger R et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
Shoji Y et al.
Endocrine Journal, 2019
The association between BRAF mutation class and clinical features in BRAF-mutant Chinese non-small cell lung cancer patients.
Lin Q et al.
Journal of Translational Medicine, 2019