Associated Papers
RAS Pathway Mutations and Therapeutics in Vascular Anomalies.
Alharbi S et al.
Pediatric Blood & Cancer, 2025
Multiplexed in vivo base editing identifies functional gene-variant-context interactions.
Acosta J et al.
Biorxiv : the Preprint Server for Biology, 2025
Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome.
Leenders EKSM et al.
Clinical Case Reports, 2024
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.
Gazzin A et al.
Life (basel, Switzerland), 2024
Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.
Chowers G et al.
Pediatric 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
Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions.
Clapp A et al.
Journal of Vascular Anomalies, 2023
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.
Carli D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.
Liu M et al.
European Journal of Human Genetics : Ejhg, 2022
The RASopathies: from pathogenetics to therapeutics.
Hebron KE et al.
Disease Models & Mechanisms, 2022
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
The paradox of cancer genes in non-malignant conditions: implications for precision medicine.
Adashek JJ et al.
Genome Medicine, 2020
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.
Li D et al.
Nature Medicine, 2019
Prospective Comprehensive Molecular Characterization of Lung Adenocarcinomas for Efficient Patient Matching to Approved and Emerging Therapies.
Jordan EJ et al.
Cancer Discovery, 2017