eprintid: 1430038
rev_number: 27
eprint_status: archive
userid: 608
dir: disk0/01/43/00/38
datestamp: 2014-05-19 18:47:46
lastmod: 2021-09-19 23:34:36
status_changed: 2014-05-19 18:47:46
type: article
metadata_visibility: show
item_issues_count: 0
creators_name: Guerreiro, R
creators_name: Brás, J
creators_name: Hardy, J
creators_name: Singleton, A
title: Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D07
divisions: F86
note: © The Author 2014. Published by Oxford University Press.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/ .0/),
which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
abstract: The development of next-generation sequencing technologies has allowed for the identification of several new genes and genetic factors in human genetics. Common results from the application of these technologies have revealed unexpected presentations for mutations in known disease genes. In this review, we summarize the major contributions of exome sequencing to the study of neurodegenerative disorders and other neurological conditions and discuss the interface between Mendelian and complex neurological diseases with a particular focus on pleiotropic events.
date: 2014-09
official_url: http://dx.doi.org/10.1093/hmg/ddu203
vfaculties: VFBRS
oa_status: green
full_text_type: pub
primo: open
primo_central: open_green
article_type_text: REVIEW
verified: verified_manual
elements_source: PubMed
elements_id: 947179
doi: 10.1093/hmg/ddu203
pii: ddu203
language_elements: ENG
lyricists_name: Hardy, John
lyricists_name: Louro Guerreiro, Rita
lyricists_name: Smalley, June
lyricists_name: Tomas Bras, Jose
lyricists_id: JHARD28
lyricists_id: RJLOU51
lyricists_id: JASMA87
lyricists_id: JMTOM86
full_text_status: public
publication: Hum Mol Genet
volume: 23
number: R1
pagerange: R47-R53
citation:        Guerreiro, R;    Brás, J;    Hardy, J;    Singleton, A;      (2014)    Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.                   Hum Mol Genet , 23  (R1)   R47-R53.    10.1093/hmg/ddu203 <https://doi.org/10.1093/hmg%2Fddu203>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/1430038/1/Hum._Mol._Genet.-2014-Guerreiro-R47-53.pdf