ӳ��ý

Technological and computational approaches to detect somatic mosaicism in epilepsy.

Boßelmann CM, Leu C, Lal D. Technological and computational approaches to detect somatic mosaicism in epilepsy. Neurobiology of disease. 2023:106208. doi:10.1016/j.nbd.2023.106208

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

D’Gama AM, Woodworth MB, Hossain AA, et al. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017;21(13):3754-3766. doi:10.1016/j.celrep.2017.11.106

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.

Cai X, Evrony GD, Lehmann HS, et al. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2014;8(5):1280-9. doi:10.1016/j.celrep.2014.07.043

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

D’Gama AM, Geng Y, Couto JA, et al. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015;77(4):720-5. doi:10.1002/ana.24357