Associated Papers
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
Wang K et al.
Journal of Human Genetics, 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
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A et al.
Nature Communications, 2025
40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_4
Genomic and Transcriptomic Analyses of NF1-Mutant Melanoma Identify Potential Targeted Approach for Treatment.
Jour G et al.
The Journal of Investigative Dermatology, 2023
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants
Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase.
Okawa Y et al.
Oncotarget, 2021
34316332 (PubMed )
Supplement: oncotarget-12-1540-s001.pdf
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
33314633 (PubMed )
Supplement: CAM4-10-53-s004.xlsx › Sheet1
Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.
Dehghani M et al.
Frontiers in Molecular Biosciences, 2019
31681791 (PubMed )
Supplement: Data_Sheet_14.XLSX › _FFPE_samples
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.
Pemov A et al.
Oncogene, 2017
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
Zhang J et al.
Scientific Reports, 2015
26056819 (PubMed )
Supplement: srep11291-s1.pdf
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
Kluwe L et al.
Human Mutation, 2002
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