Associated Papers
Patient-derived tumoroids recapitulate the morphologic and molecular features of pediatric brain tumors.
Soares-Ferreira B et al.
Npj Precision Oncology, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A
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
MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.
Miller AR et al.
Bmc Cancer, 2025
40849662 (PubMed )
Supplement: 12885_2025_14711_MOESM2_ESM.xlsx › TableS6
Comprehensive genomic and transcriptomic analysis enables molecularly guided therapy options in peritoneal and pleural mesothelioma.
Möhrmann L et al.
Esmo Open, 2025
40174508 (PubMed )
Supplement: mmc2.xlsx › Suppl._Data_5
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled
Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.
Kuehn JC et al.
Npj Precision Oncology, 2024
39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3
Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations.
Sievers P et al.
Acta Neuropathologica, 2024
39026106 (PubMed )
Supplement: 401_2024_2766_MOESM1_ESM.xlsx › Supplementary_Table_3
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 2023
37012328 (PubMed )
Supplement: 41431_2023_1320_MOESM6_ESM.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
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
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations
Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.
Saadeh FS et al.
Plos One, 2020
33237934 (PubMed )
Supplement: pone.0242793.s003.xlsx › Sheet1
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G et al.
Cancers, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8
SETD2 mutations in primary central nervous system tumors.
Viaene AN et al.
Acta Neuropathologica Communications, 2018
Clinical and molecular characterization of neurofibromatosis in southern Brazil.
Rosset C et al.
Expert Review of Molecular Diagnostics, 2018
The dominant TP53 hotspot mutation in IDH -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.
Marker DF et al.
Neuro-oncology Advances, 0
35047821 (PubMed )
Supplement: vdab182_suppl_supplementary_table_s1.xlsx › Master
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