Associated Papers
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
Segmental Congenital Vascular Anomaly With Atrophy, Ulceration and Scarring With Complications in Pregnancy.
Halbert AR et al.
The Australasian Journal of Dermatology, 2025
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
Double somatic mutations in CTNNB1 and GNA11 in an aldosterone-producing adenoma.
Nanba K et al.
Frontiers in Endocrinology, 2024
Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum.
Green TE et al.
Genetics in Medicine Open, 2024
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Primary Mucosal Melanoma of the Lip With GNA11 Mutation in a 23-Year-Old Pregnant Woman.
Khatri S et al.
Cureus, 2023
Anastomosing Haemangioma: Report of Three Cases With Molecular and Immunohistochemical Studies and Comparison With Well-Differentiated Angiosarcoma.
Chang Chien YC et al.
Pathology Oncology Research : Por, 2022
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Zhou J et al.
Nature Genetics, 2021
Heterogeneity of GNAQ/11 mutation inversely correlates with the metastatic rate in uveal melanoma.
Liang C et al.
The British Journal of Ophthalmology, 2021
GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors.
Jansen P et al.
Frontiers in Genetics, 2021
GNAQ and GNA11 mutant nonuveal melanoma: a subtype distinct from both cutaneous and uveal melanoma.
Livingstone E et al.
The British Journal of Dermatology, 2020
Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients.
Hou C et al.
Ophthalmic Research, 2020
High frequency of GNA14, GNAQ, and GNA11 mutations in cherry hemangioma: a histopathological and molecular study of 85 cases indicating GNA14 as the most commonly mutated gene in vascular neoplasms.
Liau JY et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW et al.
Genes, Chromosomes & Cancer, 2019
Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.
Klebanov N et al.
Jama Dermatology, 2019
NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.
Cirenajwis H et al.
Molecular Oncology, 2017
Comparative analysis of the GNAQ, GNA11, SF3B1, and EIF1AX driver mutations in melanoma and across the cancer spectrum.
Johnson DB et al.
Pigment Cell & Melanoma Research, 2016
Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
Behjati S et al.
Nature Genetics, 2014
Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literature.
Ivars M et al.
Pediatric Dermatology, 0
AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.
Taylor Gonzalez DJ et al.
Ophthalmology Science, 0