Associated Papers
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.
Selig M et al.
Febs Open Bio, 2025
Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.
Haugh AM et al.
Cancers, 2024
38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.
Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families.
Sharifi S et al.
Balkan Medical Journal, 2021
MicroRNA Isoforms Contribution to Melanoma Pathogenesis.
Broseghini E et al.
Non-coding Rna, 2021
34698264 (PubMed )
Supplement: ncrna-07-00063-s001.zip › Supplementary_table_7.xlsx › finale
Genomic and transcriptomic landscape of conjunctival melanoma.
Cisarova K et al.
Plos Genetics, 2020
33383577 (PubMed )
Supplement: pgen.1009201.s006.xlsx › Sheet1
Targeted Deep Sequencing Uncovers Cryptic KIT Mutations in KIT/PDGFRA/SDH/RAS-P Wild-Type GIST.
Astolfi A et al.
Frontiers in Oncology, 2020
Application of next-generation sequencing for the diagnosis of fetuses with congenital heart defects.
Qiao F et al.
Current Opinion in Obstetrics & Gynecology, 2019
A Braf kinase-inactive mutant induces lung adenocarcinoma.
Nieto P et al.
Nature, 2017
NF1 Mutations Are Common in Desmoplastic Melanoma.
Wiesner T et al.
The American Journal of Surgical Pathology, 2015
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
Laycock-van Spyk S et al.
Human Genomics, 2011
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