An exome sequencing strategy to diagnose lethal autosomal recessive disorders-Reference-Cited by-同舟云学术

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An exome sequencing strategy to diagnose lethal autosomal recessive disorders

Published:2014-06-25 Issue:3 Volume:23 Page:401-404
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Ellard Sian,Kivuva Emma,Turnpenny Peter,Stals Karen,Johnson Matthew,Xie Weijia,Caswell Richard,Lango Allen Hana

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014120.pdf

Reference13 articles.

1. Gilissen C, Hoischen A, Brunner HG, Veltman JA : Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012; 20: 490–497.

2. Gilissen C, Arts HH, Hoischen A et al: Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet 2010; 87: 418–423.

3. Haack TB, Danhauser K, Haberberger B et al: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 2010; 42: 1131–1134.

4. Merrill AE, Merriman B, Farrington-Rock C et al: Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet 2009; 84: 542–549.

5. Dagoneau N, Goulet M, Genevieve D et al: DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet 2009; 84: 706–711.

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