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
Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.
Sievers P et al.
Acta Neuropathologica, 2021
New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.
Yano S et al.
Clinical Genetics, 2018
Loss of SMARCE1 expression is a specific diagnostic marker of clear cell meningioma: a comprehensive immunophenotypical and molecular analysis.
Tauziede-Espariat A et al.
Brain Pathology (zurich, Switzerland), 2018
SMARCE1 mutation screening in classification of clear cell meningiomas.
Smith MJ et al.
Histopathology, 2017
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.
Smith MJ et al.
Nature Genetics, 2013
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