Associated Papers
Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.
Sievers P et al.
Acta Neuropathologica, 2021
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.
Aguilera C et al.
Molecular Genetics & Genomic Medicine, 2019
SMARCE1 mutation screening in classification of clear cell meningiomas.
Smith MJ et al.
Histopathology, 2017
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.
Smith MJ et al.
The Journal of Pathology, 2014
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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