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Acta Neuropathologica Communications|December 13, 2021
Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomasMargaret Shatara, Kathleen M Schieffer, Darren Klawinski, et al.Epilepsia|June 10, 2022
Detection of brain somatic variation in epilepsy-associated developmental lesionsTracy A Bedrosian, Katherine E Miller, Olivia E Grischow, et al.Biorxiv : the Preprint Server for Biology|March 23, 2026
Disrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2 -associated epilepsyRobert G Mealer, James J Anderson, Sheridan L Smith, et al.Nature Communications|April 20, 2022
Astroblastomas exhibit radial glia stem cell lineages and differential expression of imprinted and X-inactivation escape genesNorman L Lehman, Nathalie Spassky, Müge Sak, et al.Acta Neuropathologica Communications|April 8, 2021
Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastomaKathleen M Schieffer, Alexander Z Feldman, Esko A Kautto, et al.Nature Genetics|October 23, 2023
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsyKatherine E Miller, Adithe C Rivaldi, Noriyuki Shinagawa, et al.Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.The New England Journal of Medicine|June 11, 2015
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas, Daniel J Brat, Roel G W Verhaak, et al.Pageof 11