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  1. Article

    Open Access

    Author Correction: Cancer-associated DDX3X mutations drive stress granule assembly and impair global translation

    Yasmine A. Valentin-Vega, Yong-Dong Wang, Matthew Parker in Scientific Reports (2024)

  2. Article

    Open Access

    DNA-methylation subgroups carry no prognostic significance in ATRT-SHH patients in clinical trial cohorts

    Quynh T. Tran, Santhosh A. Upadhyaya, Catherine A. Billups in Acta Neuropathologica (2023)

  3. Article

    Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation

    Liam D. Hendrikse, Parthiv Haldipur, Olivier Saulnier, Jake Millman in Nature (2022)

  4. No Access

    Article

    Molecular classification and outcome of children with rare CNS embryonal tumors: results from St. Jude Children’s Research Hospital including the multi-center SJYC07 and SJMB03 clinical trials

    Methylation profiling has radically transformed our understanding of tumors previously called central nervous system primitive neuro-ectodermal tumors (CNS-PNET). While this marks a momentous step toward defin...

    Anthony P. Y. Liu, Sandeep K. Dhanda, Tong Lin, Edgar Sioson in Acta Neuropathologica (2022)

  5. No Access

    Article

    Failure of human rhombic lip differentiation underlies medulloblastoma formation

    Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain14. Mutations that activate Sonic hedgehog signallin...

    Liam D. Hendrikse, Parthiv Haldipur, Olivier Saulnier, Jake Millman in Nature (2022)

  6. Article

    Open Access

    A rare variant analysis framework using public genotype summary counts to prioritize disease-predisposition genes

    Sequencing cases without matched healthy controls hinders prioritization of germline disease-predisposition genes. To circumvent this problem, genotype summary counts from public data sets can serve as control...

    Wenan Chen, Shuoguo Wang, Saima Sultana Tithi, David W. Ellison in Nature Communications (2022)

  7. Article

    Open Access

    Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors

    Ependymomas encompass a heterogeneous group of central nervous system (CNS) neoplasms that occur along the entire neuroaxis. In recent years, extensive (epi-)genomic profiling efforts have identified several m...

    Philipp Sievers, Sophie C. Henneken, Christina Blume, Martin Sill in Acta Neuropathologica (2021)

  8. Article

    Open Access

    Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1

    Clear cell meningioma represents an uncommon variant of meningioma that typically affects children and young adults. Although an enrichment of loss-of-function mutations in the SMARCE1 gene has been reported for ...

    Philipp Sievers, Martin Sill, Christina Blume in Acta Neuropathologica (2021)

  9. Article

    Open Access

    Patient-derived orthotopic xenografts of pediatric brain tumors: a St. Jude resource

    Pediatric brain tumors are the leading cause of cancer-related death in children. Patient-derived orthotopic xenografts (PDOX) of childhood brain tumors have recently emerged as a biologically faithful vehicl...

    Kyle S. Smith, Ke Xu, Kimberly S. Mercer, Frederick Boop in Acta Neuropathologica (2020)

  10. Article

    Open Access

    CICERO: a versatile method for detecting complex and diverse driver fusions using cancer RNA sequencing data

    To discover driver fusions beyond canonical exon-to-exon chimeric transcripts, we develop CICERO, a local assembly-based algorithm that integrates RNA-seq read support with extensive annotation for candidate r...

    Liqing Tian, Yong** Li, Michael N. Edmonson, **n Zhou, Scott Newman in Genome Biology (2020)

  11. Article

    Open Access

    Clinical, imaging, and molecular analysis of pediatric pontine tumors lacking characteristic imaging features of DIPG

    Diffuse intrinsic pontine glioma (DIPG) is most commonly diagnosed based on imaging criteria, with biopsy often reserved for pontine tumors with imaging features not typical for DIPG (atypical DIPG, ‘aDIPG’). ...

    Jason Chiang, Alexander K. Diaz, Lydia Makepeace in Acta Neuropathologica Communications (2020)

  12. No Access

    Article

    Germline Elongator mutations in Sonic Hedgehog medulloblastoma

    Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition acco...

    Sebastian M. Waszak, Giles W, Robinson, Brian L. Gudenas, Kyle S. Smith in Nature (2020)

  13. No Access

    Article

    Tectal glioma harbors high rates of KRAS G12R and concomitant KRAS and BRAF alterations

    Jason Chiang, **aoyu Li, Anthony P. Y. Liu, Ibrahim Qaddoumi in Acta Neuropathologica (2020)

  14. Article

    Correction to: Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials

    The original version of this article unfortunately contained a typesetting error in Fig 3c. The corrected Fig. 3 is given in the following page.

    Anthony P. Y. Liu, Brian Gudenas, Tong Lin, Brent A. Orr in Acta Neuropathologica (2020)

  15. No Access

    Article

    Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials

    Pineoblastoma is a rare embryonal tumor of childhood that is conventionally treated with high-dose craniospinal irradiation (CSI). Multi-dimensional molecular evaluation of pineoblastoma and associated intertu...

    Anthony P. Y. Liu, Brian Gudenas, Tong Lin, Brent A. Orr in Acta Neuropathologica (2020)

  16. No Access

    Article

    Molecular subgrou** of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations

    Tumors of the pineal region comprise several different entities with distinct clinical and histopathological features. Whereas some entities predominantly affect adults, pineoblastoma (PB) constitutes a highly...

    Elke Pfaff, Christian Aichmüller, Martin Sill, Damian Stichel in Acta Neuropathologica (2020)

  17. No Access

    Article

    YAP1-fusions in pediatric NF2-wildtype meningioma

    Philipp Sievers, Jason Chiang, Daniel Schrimpf, Damian Stichel in Acta Neuropathologica (2020)

  18. No Access

    Article

    Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

    The “isomorphic subtype of diffuse astrocytoma” was identified histologically in 2004 as a supratentorial, highly differentiated glioma with low cellularity, low proliferation and focal diffuse brain infiltrat...

    Annika K. Wefers, Damian Stichel, Daniel Schrimpf, Roland Coras in Acta Neuropathologica (2020)

  19. No Access

    Article

    A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration

    Jason Chiang, Julie H. Harreld, Christopher L. Tinkle in Acta Neuropathologica (2019)

  20. No Access

    Article

    The molecular landscape of ETMR at diagnosis and relapse

    Embryonal tumours with multilayered rosettes (ETMRs) are aggressive paediatric embryonal brain tumours with a universally poor prognosis1. Here we collected 193 primary ETMRs and 23 matched relapse samples to inv...

    Sander Lambo, Susanne N. Gröbner, Tobias Rausch, Sebastian M. Waszak in Nature (2019)

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