Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

• Amit Tiwari ,

  * E-mail: tiwari@medmolgen.uzh.ch

  Affiliation Institute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, CH-8952, Schlieren, Switzerland

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• Johannes Lemke,

  Current address: Institute of Human Genetics, University Clinic Leipzig, Leipzig AöR, Philipp-Rosenthal.Str. 55, D-04103, Leipzig, Germany

  Affiliation Institute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, CH-8952, Schlieren, Switzerland

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• Janine Altmueller,

  Affiliation Cologne Center for Genomics (CCG), University of Cologne, Weyertal 115b, D-50931, Cologne, Germany

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• Holger Thiele,

  Affiliation Cologne Center for Genomics (CCG), University of Cologne, Weyertal 115b, D-50931, Cologne, Germany

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• Esther Glaus,

  Affiliation Institute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, CH-8952, Schlieren, Switzerland

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• Johannes Fleischhauer,

  Affiliation Department of Ophthalmology, University Hospital Zurich, Frauenklinikstrasse 24, CH-8091, Zürich, Switzerland

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• Peter Nürnberg,

  Affiliations Cologne Center for Genomics (CCG), University of Cologne, Weyertal 115b, D-50931, Cologne, Germany, Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch Str. 21, D-50931, Cologne, Germany, Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Joseph-Stelzmann-Str. 26, D-50931, Cologne, Germany

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• John Neidhardt ,

  Contributed equally to this work with: John Neidhardt, Wolfgang Berger

  Current address: Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, D-26129, Oldenburg, Germany; Research Center Neurosensory Science, University Oldenburg, D-26111, Oldenburg, Germany

  Affiliation Institute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, CH-8952, Schlieren, Switzerland

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• Wolfgang Berger

  Contributed equally to this work with: John Neidhardt, Wolfgang Berger

  Affiliations Institute of Medical Molecular Genetics, University of Zurich, Wagistrasse 12, CH-8952, Schlieren, Switzerland, Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland, Neuroscience Center Zurich (ZNZ), University and ETH Zurich, Winterthurerstrasse 190, CH-8057, Zurich, Switzerland

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