Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease-Reference-Cited by-同舟云学术

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Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

Published:2016-05-11 Issue:11 Volume:24 Page:1584-1590
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Mallawaarachchi Amali C,Hort Yvonne,Cowley Mark J,McCabe Mark J,Minoche André,Dinger Marcel E,Shine John,Furlong Timothy J

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201648.pdf

Reference31 articles.

1. Cornec-Le Gall E, Audrezet MP, Chen JM et al: Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol 2013; 24: 1006–1013.

2. Cornec-Le Gall E, Audrézet M-P, Le Meur Y, Chen J-M, Férec C : Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. Hum Mutat 2014; 35: 1393–1406.

3. Kirsch S, Pasantes J, Wolf A et al: Chromosomal evolution of the PKD1 gene family in primates. BMC Evol Biol 2008; 8: 263.

4. Symmons O, Varadi A, Aranyi T : How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes. Mol Biol Evol 2008; 25: 2601–2613.

5. Rossetti S, Hopp K, Sikkink RA et al: Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol 2012; 23: 915–933.

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