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Open Access
Peer-reviewed
Research Article
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
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Nicole Weisschuh ,
* E-mail: nicole.weisschuh@uni-tuebingen.de
Affiliation Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
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Anja K. Mayer,
Affiliation Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
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Tim M. Strom,
Affiliation Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany
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Susanne Kohl,
Affiliation Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
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Nicola Glöckle,
Affiliation CeGaT GmbH, Tuebingen, Germany
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Max Schubach,
Affiliation Institute of Medical Genetics and Human Genetics, Charité – Universitaetsmedizin Berlin, Berlin, Germany
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Sten Andreasson,
Affiliation Department of Ophthalmology, Lund University, Lund, Sweden
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Antje Bernd,
Affiliation University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
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David G. Birch,
Affiliation The Retina Foundation of the Southwest, Dallas, Texas, United States of America
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Christian P. Hamel,
Affiliation Genetic Sensory Diseases, CHU de Montpellier, Montpellier, France
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John R. Heckenlively,
Affiliation Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States of America
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Samuel G. Jacobson,
Affiliation Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
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Christina Kamme,
Affiliation Department of Ophthalmology, Lund University, Lund, Sweden
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Ulrich Kellner,
Affiliation Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany
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Erdmute Kunstmann,
Affiliation Institute of Human Genetics, Julius-Maximilian-University, Wuerzburg, Germany
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Pietro Maffei,
Affiliation Department of Medicine, University Hospital of Padua, Padua, Italy
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Charlotte M. Reiff,
Affiliation Eye Center, Albert-Ludwigs-University of Freiburg, Freiburg, Germany
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Klaus Rohrschneider,
Affiliation Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany
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Thomas Rosenberg,
Affiliation National Eye Clinic, Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark
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Günther Rudolph,
Affiliation University Eye Hospital, Ludwig Maximilians University, Munich, Germany
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Rita Vámos,
Affiliation Department of Ophthalmology, Semmelweis University, Budapest, Hungary
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Balázs Varsányi,
Affiliations Department of Ophthalmology, Semmelweis University, Budapest, Hungary, Department of Ophthalmology, University of Pécs Medical School, Pécs, Hungary
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Richard G. Weleber,
Affiliation Casey Eye Institute, Oregon Retinal Degeneration Center, Oregon Health & Science University, Portland, Oregon, United States of America
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Bernd Wissinger
Affiliation Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany
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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
- Nicole Weisschuh,
- Anja K. Mayer,
- Tim M. Strom,
- Susanne Kohl,
- Nicola Glöckle,
- Max Schubach,
- Sten Andreasson,
- Antje Bernd,
- David G. Birch,
- Christian P. Hamel
- Published: January 14, 2016
- https://doi.org/10.1371/journal.pone.0145951