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
Identification of novel prognostic and predictive biomarkers in salivary duct carcinoma via comprehensive molecular profiling.
Kohsaka S et al.
Npj Precision Oncology, 2022
36333410 (PubMed )
Supplement: 41698_2022_324_MOESM3_ESM.xlsx › Mutations
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
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.
Leier A et al.
Molecular Therapy. Nucleic Acids, 2022
35433111 (PubMed )
Supplement: mmc1.pdf
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.
Gutiontov SI et al.
Scientific Reports, 2021
34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Stella A et al.
Genes, 2018
Select a paper to view details