Associated Papers
Comprehensive molecular landscape of anal squamous cell carcinoma: analysis of tissue and liquid biopsies from 1844 patients.
Smolenschi C et al.
Npj Precision Oncology, 2025
Optic Nerve Glioma, Plexiform Neurofibroma, and Secondary Glaucoma in a Child With a Rare NF1 Variant (p.Gln83Ter): A Case Report.
Chaudhary K et al.
Cureus, 2025
A novel multion in a Chinese family with neurofibromatosis type 1: A case report.
Tao X et al.
Medicine, 2025
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.
Kim H et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.
Tsui DWY et al.
Genome Medicine, 2021
Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance.
Pearson A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Razavi P et al.
Nature Medicine, 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
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
Intratumor heterogeneity comparison among different subtypes of non-small-cell lung cancer through multi-region tissue and matched ctDNA sequencing.
Zhang Y et al.
Molecular Cancer, 2019
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
Clark TA et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.
Wimmer K et al.
Genes, Chromosomes & Cancer, 2006
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Messiaen LM et al.
Human Mutation, 2000
Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.
Osborn MJ et al.
Human Genetics, 1999