Associated Papers
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
Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.
Galka-Marciniak P et al.
Nucleic Acids Research, 2025
40867048 (PubMed )
Supplement: gkaf812_supplemental_files.zip › Supplementary_Table_S5_List_of_mutations_cancer_samples.xlsx › cancer_drivers
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
NF1 expression profiling in IDH-wildtype glioblastoma: genomic associations and survival outcomes.
Chang M et al.
Acta Neuropathologica Communications, 2024
39472976 (PubMed )
Supplement: 40478_2024_1875_MOESM5_ESM.xlsx › Supplementary_Table_1
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › Hot.spot.panel.SNP_all_variants
Lack of Influence of Non-Overlapping Mutations in BRAF, NRAS, or NF1 on 12-Month Best Objective Response and Long-Term Survival after Checkpoint Inhibitor-Based Treatment for Metastatic Melanoma.
Panning A et al.
Cancers, 2023
37444637 (PubMed )
Supplement: cancers-15-03527-s001.zip › Alyssa_Supplemental_Table_S1_pt_demographics_8-14-22.pdf
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
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.
Zhu G et al.
Orphanet Journal of Rare Diseases, 2019
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 › SNV_and_indels
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