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Article

Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.

Acta neuropathologica communications - 25 Aug 2022

Foss-Skiftesvik Jon, Stoltze Ulrik Kristoffer, van Overeem Hansen Thomas, Ahlborn Lise Barlebo, Sørensen Erik, Ostrowski Sisse Rye, Kullegaard Solvej Margrete Aldringer, Laspiur Adrian Otamendi, Melchior Linea Cecilie, Scheie David, Kristensen Bjarne Winther, Skjøth-Rasmussen Jane, Schmiegelow Kjeld, Wadt Karin, Mathiasen René

Abstract excerpt

Ependymoma is the second most common malignant brain tumor in children. The etiology is largely unknown and germline DNA sequencing studies focusing on childhood ependymoma are limited. We therefore performed germline whole-genome sequencing on a population-based cohort of children diagnosed with ependymoma in Denmark over the past 20 years (n = 43). Single nucleotide and structural germline variants in 457...

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Identifiers

PMID: 36008825
DOI: 10.1186/s40478-022-01429-1
PMCID: PMC9404601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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