Associated Papers
Clinical and Genetic Landscape of Glioblastoma, IDH-Wildtype With FGFR Gene Family Alterations.
Kegoya Y et al.
Cancer Science, 2026
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
Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
Fei H et al.
Orphanet Journal of Rare Diseases, 2025
40410838 (PubMed )
Supplement: 13023_2025_3807_MOESM1_ESM.xlsx › Supplementary_Table_2
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
A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.
Lin T et al.
Frontiers in Genetics, 2025
Not Only RET but NF1 and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma.
Castroneves LA et al.
Journal of the Endocrine Society, 2024
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
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
Corsello G et al.
Italian Journal of Pediatrics, 2018
Children with 5'-end NF1 gene mutations are more likely to have glioma.
Anastasaki C et al.
Neurology. Genetics, 2017
28955729 (PubMed )
Supplement: supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
Jang MA et al.
Journal of Human Genetics, 2016
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E et al.
Human Mutation, 2008
Revisiting pediatric HGGs and PNETs according to the WHO CNS5 criteria: A clinical and genomic retrospective analysis.
Kim JW et al.
Neuro-oncology Advances, 0
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