An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families-Reference-Cited by-同舟云学术

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Published:2017-08-11 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Guo Ting,Tan Zhi-Ping,Chen Hua-Mei,Zheng Dong-yuan,liu Lv,Huang Xin-Gang,Chen Ping,Luo Hong,Yang Yi-Feng

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-08510-z.pdf

Reference38 articles.

1. Lobo, J., Zariwala, M. A. & Noone, P. G. Primary ciliary dyskinesia. Semin. Respir. Crit. Care Med. 36, 169–179 (2015).

2. Werner, C., Onnebrink, J. G. & Omran, H. Diagnosis and management of primary ciliary dyskinesia. Cilia 4, 2 (2015).

3. Pennarun, G. et al. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. AM J HUM GENET 65, 1508 (1999).

4. Shapiro, A. J. et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr. Pulmonol. 51, 115–132 (2016).

5. Olbrich, H. et al. Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the Nexin-Dynein regulatory complex. Am. J. Hum. Genet. 97, 546–554 (2015).

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