Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

Author:

Birtel JohannesORCID,Gliem Martin,Mangold Elisabeth,Müller Philipp L.,Holz Frank G.,Neuhaus Christine,Lenzner Steffen,Zahnleiter Diana,Betz Christian,Eisenberger Tobias,Bolz Hanno J.,Charbel Issa PeterORCID

Funder

Pro Retina Foundation

National Institute for Health Research (NIHR)

Deutsche Forschungsgemeinschaft

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference72 articles.

1. Retinitis pigmentosa;C. Hamel;Orphanet J Rare Dis,2006

2. Retinitis pigmentosa;DT Hartong;Lancet,2006

3. Gene therapy for the treatment of X-linked retinitis pigmentosa;C Martinez-Fernandez De La Camara;Expert Opin Orphan Drugs,2018

4. Next-generation genetic testing for retinitis pigmentosa;K Neveling;Hum Mutat,2012

5. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease;J O'Sullivan;J Med Genet,2012

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