Associated Papers
Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.
Świeca A et al.
Clinical Case Reports, 2026
Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.
Li S et al.
Journal of Advanced 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
Sudden cardiac death in childhood RASopathy-associated hypertrophic cardiomyopathy: Validation of the HCM risk-kids model and predictors of events.
Boleti OD et al.
International Journal of Cardiology, 2023
BRAF Inhibitor Resistance in Melanoma: Mechanisms and Alternative Therapeutic Strategies.
Zhong J et al.
Current Treatment Options in Oncology, 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
Calibration-free NGS quantitation of mutations below 0.01% VAF.
Dai P et al.
Nature Communications, 2021
Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.
Thirunavukarasu D et al.
Genome Biology, 2021
Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.
Schmitt M et al.
Molecular & Cellular Proteomics : Mcp, 2021
Design and Testing of a Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.
Diefenbach RJ et al.
Cancers, 2020
Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.
Hamid AB et al.
Cancers, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.
de Unamuno Bustos B et al.
Scientific Reports, 2017
Increased MAPK reactivation in early resistance to dabrafenib/trametinib combination therapy of BRAF-mutant metastatic melanoma.
Long GV et al.
Nature Communications, 2014
Concurrent MEK2 mutation and BRAF amplification confer resistance to BRAF and MEK inhibitors in melanoma.
Villanueva J et al.
Cell Reports, 2013
High-throughput sequencing of the melanoma genome.
Kunz M et al.
Experimental Dermatology, 2013
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Nikolaev SI et al.
Nature Genetics, 2011