Associated Papers
Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.
Lai A et al.
Neoplasia (new York, N.y.), 2025
41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Fumarate hydratase-mutant glioma with giant-cell histology, MSH6 mutation, and hypermutation.
Mafficini A et al.
Journal of Neuropathology and Experimental Neurology, 2025
Long-read sequencing for NF1 gene analysis: enhancing diagnostic accuracy for Neurofibromatosis type 1.
Zheng Y et al.
Human Molecular Genetics, 2025
40719757 (PubMed )
Supplement: supplemental-tabless1-4_clean_ddaf108.xlsx › Table-S1-All_samples
Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands.
Wang R et al.
Orphanet Journal of Rare Diseases, 2025
40462134 (PubMed )
Supplement: 13023_2025_3759_MOESM2_ESM.xlsx › Sheet1
Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.
Lucas CG et al.
Neuro-oncology, 2025
39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5
The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.
Díaz de Ståhl T et al.
Journal of Translational Medicine, 2023
37221626 (PubMed )
Supplement: 12967_2023_4178_MOESM2_ESM.xlsx › Table_S1
A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data.
Kontogianni G et al.
Cancers, 2023
36765773 (PubMed )
Supplement: cancers-15-00815-s001.zip › Tables_S1-S7.xlsx › Supplementary_Table_2
IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.
Barresi V et al.
Acta Neuropathologica Communications, 2021
34952640 (PubMed )
Supplement: 40478_2021_1304_MOESM3_ESM.xlsx › Supplementary_Table_2
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A et al.
Clinical Genetics, 2021
Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo P et al.
Cancers, 2021
Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.
Sarkadi B et al.
Cancers, 2021
Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.
Vandekerkhove G et al.
Nature Communications, 2021
33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
33314633 (PubMed )
Supplement: CAM4-10-53-s003.xlsx › Sheet1
Clinical Impact of Next-generation Sequencing in Pediatric Neuro-Oncology Patients: A Single-institutional Experience.
Barsan V et al.
Cureus, 2019
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G et al.
Cancers, 2019
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A et al.
Orphanet Journal of Rare Diseases, 2019
31730495 (PubMed )
Supplement: 13023_2019_1223_MOESM1_ESM.doc
Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients.
Tritto V et al.
Genes, 2019
31694342 (PubMed )
Supplement: genes-10-00892-s001.zip › SupplementaryRev › TableS1.lsx.xlsx › Table_1
Comprehensive Genomic Profiling of 282 Pediatric Low- and High-Grade Gliomas Reveals Genomic Drivers, Tumor Mutational Burden, and Hypermutation Signatures.
Johnson A et al.
The Oncologist, 2017
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].
Origone P et al.
Human Mutation, 2003
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Ars E et al.
Journal of Medical Genetics, 2003
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
Kluwe L et al.
Human Mutation, 2002
Select a paper to view details