High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets - Research portal of Justus Liebig University Giessen:

Meeting Abstract

High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets

Authors list: Bolz, Hanno; Neuhaus, Christine; Preising, Markus; Khan, Arif; Gliem, Martin; Issa, Peter Charbel; Wolfrum, Uwe; Gal, Andreas; Lorenz, Birgit; Eisenberger, Tobias

Publication year: 2013

Journal: Investigative Ophthalmology & Visual Science

Volume number: 54

Issue number: 15

ISSN: 0146-0404

eISSN: 1552-5783

Publisher: Association for Research in Vision and Ophthalmology

Citation Styles

Harvard Citation style: Bolz, H., Neuhaus, C., Preising, M., Khan, A., Gliem, M., Issa, P., et al. (2013) High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets, Investigative Ophthalmology & Visual Science, 54(15)

APA Citation style: Bolz, H., Neuhaus, C., Preising, M., Khan, A., Gliem, M., Issa, P., Wolfrum, U., Gal, A., Lorenz, B., & Eisenberger, T. (2013). High-coverage next-generation sequencing (NGS) for retinal dystrophies and Usher syndrome: High diagnostic yield, CNV detection, novel disease mechanisms and therapy targets. Investigative Ophthalmology & Visual Science. 54(15).

Keywords

537 gene screening; 539 genetics; 696 retinal degenerations: hereditary

SDG Areas

3 Good health and well-being