Associated Papers
Clinical outcomes of genomically guided trametinib monotherapy across cancer types: results from the IMPRESS-Norway trial.
Slørdahl KS et al.
Acta Oncologica (stockholm, Sweden), 2026
Vascular malformations: from genetics to therapeutics.
Morin G et al.
Embo Molecular Medicine, 2026
Liquid Biopsy and Automated Next-Generation Sequencing: Achieving Results in 27 Hours Within a Community Setting.
Yajima T et al.
Diagnostics (basel, Switzerland), 2025
Early genetic evolution of driver mutations in uveal melanoma.
Dollar JJ et al.
Nature Communications, 2025
Nucleotide Substitution Biases in Related Cancer Driver Genes.
Khadre A et al.
International Journal of Molecular Sciences, 2025
Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.
Knöpfel N et al.
The British Journal of Dermatology, 2025
Targeted management of vascular anomalies.
Lu JT et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
Ocular Melanoma: A Comprehensive Review with a Focus on Molecular Biology.
Iavarone L et al.
International Journal of Molecular Sciences, 2025
Early Genetic Evolution of Driver Mutations in Uveal Melanoma.
Dollar JJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.
O'Sullivan S et al.
American Journal of Medical Genetics. Part A, 2025
Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.
Blatt J et al.
Pediatric Blood & Cancer, 2025
Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.
Terai M et al.
Journal of Clinical Medicine, 2025
Digital PCR-based genetic profiling from vitreous fluid as liquid biopsy for primary uveal melanoma: a proof-of-concept study.
Nell RJ et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2025
MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations.
Nasim S et al.
Biorxiv : the Preprint Server for Biology, 2025
Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.
Vasquez YA et al.
Npj Precision Oncology, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Identification of diagnostic and prognostic genetic alterations in uveal melanoma using RNA sequencing.
Nell RJ et al.
Scientific Reports, 2025
An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.
Massimino M et al.
Biomolecules, 2025
Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets.
Toumi E et al.
Cancers, 2024
A Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways.
Joslyn KE et al.
Molecules (basel, Switzerland), 2024
Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood.
Bellucca S et al.
The Journal of Pediatrics, 2024
GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.
Pilch J et al.
Cancers, 2024
Phacomatosis spilorosea and phacomatosis melanorosea: further phenotype expansion.
Torchia D
Dermatology Online Journal, 2024
GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.
Ikeuchi H et al.
Oncogene, 2024
Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.
Lillesand M et al.
Diagnostics (basel, Switzerland), 2024
Mosaic GNAQ and GNA11 mutations may cause phacomatosis melanorosea and phacomatosis melanocesioflammea.
Torchia D
Pediatric Investigation, 2024
New Mechanisms Underlying Oncogenesis in Dbl Family Rho Guanine Nucleotide Exchange Factors.
Ravala SK et al.
Molecular Pharmacology, 2024
Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
Langbroek GB et al.
The Journal of Investigative Dermatology, 2024
Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis.
Zhang B et al.
Pediatric Investigation, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
Revencu N et al.
Orphanet Journal of Rare Diseases, 2024
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Zecchin D et al.
The Journal of Investigative Dermatology, 2024
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N et al.
The Journal of Investigative Dermatology, 2024
Comparison between next-generation sequencing and multiplex polymerase chain reaction assays for nonsmall-cell lung cancer molecular diagnosis.
Murakami S et al.
Cancer Medicine, 2024
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
Clinical and genetic characteristics of BAP1-mutated non-uveal and uveal melanoma.
Matull J et al.
Frontiers in Immunology, 2024
Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.
Wadt KAW et al.
Plos One, 2024
Sturge-Weber syndrome: updates in translational neurology.
Solomon C et al.
Frontiers in Neurology, 2024
Late-Onset Status Epilepticus Associated With Isolated Leptomeningeal Angioma and Sturge-Weber Syndrome-Related GNA11 Pathogenic Variation.
Cousyn L et al.
Neurology, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.
Pérez-Pérez M et al.
Clinical & Experimental Ophthalmology, 2023
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Zhang B et al.
Orphanet Journal of Rare Diseases, 2023
Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.
Vasudevan HN et al.
Jama Network Open, 2023
First-Line Genomic Profiling in Previously Untreated Advanced Solid Tumors for Identification of Targeted Therapy Opportunities.
Matsubara J et al.
Jama Network Open, 2023
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D et al.
Nature Medicine, 2023
Spatial transcriptomics reveal topological immune landscapes of Asian head and neck angiosarcoma.
Loh JW et al.
Communications Biology, 2023