Associated Papers
High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.
Kim J et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf
Integrating molecular analyses with the 2021 WHO classification of adult pilocytic astrocytomas.
Moreno-Torres B et al.
Journal of Neuropathology and Experimental Neurology, 2025
Molecular Profiling of KIT/PDGFRA-Mutant and Wild-Type Gastrointestinal Stromal Tumors (GISTs) with Clinicopathological Correlation: An 18-Year Experience at a Tertiary Center in Kuwait.
Ali RH et al.
Cancers, 2024
39199677 (PubMed )
Supplement: cancers-16-02907-s001.zip › cancers-3159199-supplementary.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
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
Kang E et al.
Orphanet Journal of Rare Diseases, 2022
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Kang E et al.
Journal of Human Genetics, 2020
Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.
MacFarland SP et al.
Jco Precision Oncology, 2019
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Wu-Chou YH et al.
Journal of Biomedical Science, 2018
Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.
Sohier P et al.
Genes, Chromosomes & Cancer, 2017
Molecular and clinical characterization of H3 K27M-mutant "non-midline" glioblastoma: A case report and literature review.
Onishi S et al.
Neurocirugia, 0
Targeted next-generation sequencing-based sequencing of cell-free DNA in cerebrospinal fluid uncovers cancer-specific mutations in patients with brain cancer using a widely available panel.
Köpp A et al.
Neuro-oncology Advances, 0
41664825 (PubMed )
Supplement: vdaf270_supplementary_data.zip › Table_S2.xlsx › Variants_Blood_and_CSF
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