Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Authors

Christopher Grunseich
Nathan Sarkar
Joyce Lu
Mallory Owen
Alice Schindler
Peter A Calabresi
Charlotte J Sumner
Ricardo H Roda
Vinay Chaudhry
Thomas E Lloyd
Thomas O Crawford
S H Subramony
Shin J Oh
Perry Richardson, George Washington University
Kurenai Tanji
Justin Y Kwan
Kenneth H Fischbeck
Ami Mankodi

Document Type

Journal Article

Publication Date

11-1-2021

Journal

Journal of Neurology, Neurosurgery, and Psychiatry

Volume

92

Issue

11

Inclusive Pages

1186-1196

DOI

10.1136/jnnp-2020-325437

Comments

Epub 2021 Jun 8

APA Citation

Grunseich, C., Sarkar, N., Lu, J., Owen, M., Schindler, A., Calabresi, P., Sumner, C., Roda, R., Chaudhry, V., Lloyd, T., Crawford, T., Subramony, S., Oh, S., Richardson, P., Tanji, K., Kwan, J., Fischbeck, K., & Mankodi, A. (2021). Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.. Journal of Neurology, Neurosurgery, and Psychiatry, 92 (11). http://dx.doi.org/10.1136/jnnp-2020-325437

Peer Reviewed

1