Author:
Tetreault Martine, ,Fahiminiya Somayyeh,Antonicka Hana,Mitchell Grant A.,Geraghty Michael T.,Lines Matthew,Boycott Kym M.,Shoubridge Eric A.,Mitchell John J.,Michaud Jacques L.,Majewski Jacek
Funder
CIHR
Genome Canada
Ontario Genomics Institute
Ontario Research fund
Genome Quebec
Children Hospital of Eastern Ontario Foundation
Reseau de medecine genique appliquee
Fonds de Recherche du Québec - Santé
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference21 articles.
1. Aulbert W, Weigt-Usinger K, Thiels C, Kohler C, Vorgerd M, Schreiner A, Hoffjan S, Rothoeft T, Wortmann SB, Heyer CM, Podskarbi T, Lucke T (2014) Long survival in Leigh syndrome: new cases and review of literature. Neuropediatrics 45:346–353. doi: 10.1055/s-0034-1383823
2. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12:745–755. doi: 10.1038/nrg3031
3. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE (2013) Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 14:681–691. doi: 10.1038/nrg3555
4. Buhas D, Bernard G, Fukao T, Decarie JC, Chouinard S, Mitchell GA (2013) A treatable new cause of chorea: beta-ketothiolase deficiency. Mov Disord 28:1054–1056. doi: 10.1002/mds.25538
5. Chinnery PF (2000) Mitochondrial disorders overview. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews® [Internet]. University of Washington, Seattle, WA, 1993–2015
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