High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
About this item
Full title
Author / Creator
Thomas, Quentin , Vitobello, Antonio , Tran Mau-Them, Frederic , Duffourd, Yannis , Fromont, Agnès , Giroud, Maurice , Daubail, Benoit , Jacquin-Piques, Agnès , Hervieu-Begue, Marie , Moreau, Thibault , Osseby, Guy-Victor , Garret, Philippine , Nambot, Sophie , Delanne, Julian , Bruel, Ange-Line , Sorlin, Arthur , Callier, Patrick , Denomme-Pichon, Anne-Sophie , Faivre, Laurence , Béjot, Yannick , Philippe, Christophe , Thauvin-Robinet, Christel and Moutton, Sébastien
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
ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-seven probands with various progressive neurological disorders (cerebellar ataxias, neuromuscular disor...
Alternative Titles
Full title
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
Authors, Artists and Contributors
Author / Creator
Vitobello, Antonio
Tran Mau-Them, Frederic
Duffourd, Yannis
Fromont, Agnès
Giroud, Maurice
Daubail, Benoit
Jacquin-Piques, Agnès
Hervieu-Begue, Marie
Moreau, Thibault
Osseby, Guy-Victor
Garret, Philippine
Nambot, Sophie
Delanne, Julian
Bruel, Ange-Line
Sorlin, Arthur
Callier, Patrick
Denomme-Pichon, Anne-Sophie
Faivre, Laurence
Béjot, Yannick
Philippe, Christophe
Thauvin-Robinet, Christel
Moutton, Sébastien
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03266264v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03266264v1
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-107369
