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

Grunseich, C., Sarkar, N., Lu, J., Owen, M., Schindler, A., Calabresi, P. A., Sumner, C. J., Roda, R. H., Chaudhry, V., Lloyd, T. E., Crawford, T. O., Subramony, S. H., Oh, S. J., Richardson, P., Tanji, K., Kwan, J. Y., Fischbeck, K. H., & 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 & Psychiatry, 92(11), 1186–1196. https://doi.org/10.1136/jnnp-2020-325437
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
Kurenai Tanji
Justin Y Kwan
Kenneth H Fischbeck
Ami Mankodi
Affiliated Authors:
Kurenai Tanji
Publication Type:
Article
Unique ID:
10.1136/jnnp-2020-325437
PMID:
Publication Date:
Data Source:
Scopus

Record Created: