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Elise Brimble, MSc, MS, CGC

  • elise-brimble-images

Especialidades médicas y/o especialidades quirúrgicas

Neurology

Trabajo y educación

Educación

Molecular Genetics and Genetics Counseling, Boston University, Boston, MA, 2016

Intereses de investigación

Epilepsy Genetics

Publicaciones

Reuter CM, Brimble E, DeFilippo C, Dries AM, Undiagnosed Diseases Network, Enns GM, Ashley EA, Bernstein JA, Fisher PG, Wheeler MT. (2018). J Pediatr.

Khattak S*, Brimble E*, Wenbo Z*, Zaslavsky K, Strong E, Ross PJ, Hendry J, Mital S, Salter MW, Osborne LR, Ellis J. Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome. (2015). Mol Brain. 8:77

Epilepsy Genetics Initiative. De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. (2017). Genet Med. 20(2):275-281.