Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel
DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.
Manea S et al.
Cancers, 2025
40361440 (PubMed )
Supplement: cancers-17-01513-s001.zip › cancers-3488083-supplementary.xlsx › Blatt_1_-_Tabelle_1
The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1.
Chen S et al.
Neurosciences (riyadh, Saudi Arabia), 2024
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M et al.
Cancers, 2023
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.
Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden.
Ak M et al.
Genes, 2021
34202213 (PubMed )
Supplement: genes-12-00974-s001.zip › Supplemental_Table_S2_F1CDx_gene_alteration.xlsx › Tabelle1
Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant.
Alexandrescu S et al.
Histopathology, 2021
Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.
Egan C et al.
Haematologica, 2020
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM14_ESM.xlsx › Sheet1
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T et al.
Genes, 2019
Whole-exome sequencing of duodenal neuroendocrine tumors in patients with neurofibromatosis type 1.
Noë M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
Lee MJ et al.
Human Mutation, 2006
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