Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, cl...
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
About this item
Full title
Author / Creator
Grunseich, Christopher , Sarkar, Nathan , Lu, Joyce , Owen, Mallory , Schindler, Alice , Calabresi, Peter A , Sumner, Charlotte J , Roda, Ricardo H , Chaudhry, Vinay , Lloyd, Thomas E , Crawford, Thomas O , Subramony, S H , Oh, Shin J , Richardson, Perry , Tanji, Kurenai , Kwan, Justin Y , Fischbeck, Kenneth H and Mankodi, Ami
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundWe used a multimodal approach including detailed phenotyping, whole exome sequencing (WES) and candidate gene filters to diagnose rare neurological diseases in individuals referred by tertiary neurology centres.MethodsWES was performed on 66 individuals with neurogenetic diseases using candidate gene filters and stringent algorithms for a...
Alternative Titles
Full title
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8522445
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8522445
Other Identifiers
ISSN
0022-3050
E-ISSN
1468-330X
DOI
10.1136/jnnp-2020-325437
