Publication Name	World Journal of Neurology
Manuscript ID	4389
Country	Cyprus

Received	2013-06-28 17:19
Peer-Review Started	2013-06-28 19:39
To Make the First Decision	2013-08-08 11:10
Return for Revision	2013-08-15 09:02
Revised	2013-08-30 17:38
Second Decision	2013-10-16 09:13
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2013-10-16 10:33
Articles in Press
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2013-12-19 18:57
Publish the Manuscript Online	2014-01-16 17:21

ISSN	2218-6212 (online)
Open Access
Copyright
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Publisher	Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website	http://www.wjgnet.com

Category	Genetics & Heredity
Manuscript Type	Review
Article Title	Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era
Manuscript Source	Invited Manuscript
All Author List	Christina Votsi and Kyproula Christodoulou
Funding Agency and Grant Number
Corresponding Author	Kyproula Christodoulou, PhD, Professor of the Cyprus School of Molecular Medicine, Head of the Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, 6 International Airport Av., PO Box 23462, Nicosia 1683, Cyprus. roula@cing.ac.cy
Key Words	Autosomal recessive cerebellar ataxia; Whole-exome sequencing; Whole-genome sequencing; Homozygosity mapping; Next generation sequencing
Core Tip	Molecular diagnosis of autosomal recessive cerebellar ataxias (ARCA) is challenging due to clinical overlap and increased genetic heterogeneity. Although use of traditional techniques led to the identification of causative mutations in the past, the recent employment of novel technologies in this field, has initiated a new era in the molecular diagnosis of ARCA. Limitations such as small sized families, large numbers of candidate genes within mapped intervals and large sized genes hindered the timely discovery of ARCA genes using conventional Sanger sequencing. ARCA gene discovery and molecular diagnosis should be achievable at a much faster rate through the use of whole-genome or whole-exome sequencing technologies.
Publish Date	2014-01-16 17:21
Citation	Votsi C, Christodoulou K. Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era. World J Neurol 2013; 3(4): 115-128
URL	http://www.wjgnet.com/2218-6212/full/v3/i4/115.htm
DOI	http://dx.doi.org/10.5316/wjn.v3.i4.115

Full Article (PDF)	WJN-3-115.pdf
Full Article (Word)	WJN-3-115.doc
Manuscript File	4389-Review.docx
Answering Reviewers	4389-Answering reviewers.pdf
Copyright License Agreement	4389-Copyright assignment.pdf
Non-Native Speakers of English Editing Certificate	4389-Language certificate.pdf
Peer-review Report	4389-Peer review(s).pdf
Scientific Editor Work List	4389-Scientific editor work list.doc