Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Author:

Almoguera Berta,Li Jiankang,Fernandez-San Jose Patricia,Liu Yichuan,March Michael,Pellegrino Renata,Golhar Ryan,Corton Marta,Blanco-Kelly Fiona,López-Molina Maria Isabel,García-Sandoval Blanca,Guo Yiran,Tian Lifeng,Liu Xuanzhu,Guan Liping,Zhang Jianguo,Keating Brendan,Xu Xun,Hakonarson Hakon,Ayuso Carmen

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference52 articles.

1. Retinitis pigmentosa;C Hamel;Orphanet journal of rare diseases,2006

2. Retinitis pigmentosa;DT Hartong;Lancet,2006

3. Genes and mutations causing retinitis pigmentosa;SP Daiger;Clin Genet,2013

4. Retinitis pigmentosa and allied conditions today: a paradigm of translational research;C Ayuso;Genome Med,2010

5. Exome sequencing identifies the cause of a mendelian disorder;SB Ng;Nature genetics,2010

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