New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre-Reference-Cited by-同舟云学术

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New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

Published:2016-06-12 Issue:1 Volume:14 Page:
ISSN:1479-5876
Container-title:Journal of Translational Medicine
language:en
Short-container-title:J Transl Med

Author:

Pronicka Ewa,Piekutowska-Abramczuk Dorota,Ciara Elżbieta,Trubicka Joanna,Rokicki Dariusz,Karkucińska-Więckowska Agnieszka,Pajdowska Magdalena,Jurkiewicz Elżbieta,Halat Paulina,Kosińska Joanna,Pollak Agnieszka,Rydzanicz Małgorzata,Stawinski Piotr,Pronicki Maciej,Krajewska-Walasek Małgorzata,Płoski Rafał

Funder

The Children's Memorial Health Institute grant

National Science Centre

EU Structural Funds Project

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12967-016-0930-9

Reference69 articles.

1. DaRe JT, Vasta V, Penn J, Tran NT, Hahn SH. Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. BMC Med Genet. 2013;14:118.

2. Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH. Next generation sequence analysis for mitochondrial disorders. Genome Med. 2009;110:100.

3. Koene S, Smeitink J. Mitochondrial medicine. J Inherit Metab Dis. 2011;342:247–8.

4. Shamseldin HE, Alshammari M, Al-Sheddi T, Salih MA, Alkhalidi H, Kentab A, Repetto GM, Hashem M, Alkuraya FS. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet. 2012;494:234–41.

5. Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012;4118:118ra10.

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