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Next Generation Diagnostics for Rare Neurological Diseases: The Future is Here

Published online by Cambridge University Press:  23 September 2014

A. Micheil Innes
Affiliation:
University of Calgary, Calgary, Alberta, Canada
Kym M. Boycott
Affiliation:
University of Ottawa, Ottawa, Ontario, Canada
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Abstract

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Type
Editorial
Copyright
Copyright © The Canadian Journal of Neurological 2014

References

1.Canadian Organization for Rare Disorders. Toronto; [cited 2014 Feb 20]. Available from: http://www.raredisorders.ca/..Google Scholar
2.McKusick, VA. Mendelian inheritance in man and its online version, OMIM. Am J Hum Genet. 2007 80(4)588604.CrossRefGoogle ScholarPubMed
3.van Karnebeek, C, Murphy, T, Giannasi, W, Thomas, M, Connolly, M, Stockler, S. Diagnostic value of a multidisciplinary clinic for intellectual disability. Can J Neurol Sci. 2014 41(3)33345.Google Scholar
4.Duncan, AM, Chodirker, B. Use of array genomic hybridization technology for constitutional genetic diagnosis in Canada. Paediatr Child Health. 2011 16(4)21112.CrossRefGoogle ScholarPubMed
5.Boycott, KM, Dyment, DA, Sawyer, SL, Vanstone, MR, Beaulieu, CL. Identification of genes for childhood heritable diseases. Annu Rev Med. 2014 65 1931.CrossRefGoogle ScholarPubMed
6.de Ligt, J, Willemsen, MH, van Bon, BW. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 367(20)19219.Google Scholar
7.Sawyer, SL, Schwartzentruber, J, Beaulieu, CL. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat. 2014 35(1)459.CrossRefGoogle ScholarPubMed
8.Shashi, V, McConkie-Rosell, A, Rosell, B. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med. 2013 [EPub ahead of print Aug 8].Google ScholarPubMed
9.Green, RC, Berg, JS, Grody, WW. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 15 56574.Google Scholar
10.Orphanet Canada. Montreal; [cited 2014 Feb 20]. Available from: http://www.orpha.net/national/CA-EN/index/homepage/.Google Scholar
11.International Rare Disease Research Consortium. Paris; [cited 2014 Feb 20]. Available from: http://www.irdirc.org/.Google Scholar
12.Care for Rare Canada. Ottawa; [cited 2014 Feb 20]. Available from: http://www.care4rare.ca.Google Scholar
13.Ku, CS, Cooper, DN, Polychronakos, C, Naidoo, N, Wu, M, Soong, R. Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol. 2012 71(1)514.Google Scholar
14.PhenomeCentral. Toronto; [cited 2014 Feb 20]. Available from: https://phenomecentral.org.Google Scholar