Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

• Alireza Haghighi ,

  Contributed equally to this work with: Alireza Haghighi, Amit Tiwari

  * E-mail: berger@medgen.uzh.ch (MB); haghighimd@yahoo.com (Alireza Haghighi)

  Affiliations Department of Genetics, Harvard Medical School, Boston, MA, United States of America, Department of Medicine and the Howard Hughes Medical Institute, Brigham and Women’s Hospital, Boston, MA, United States of America

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• Amit Tiwari ,

  Contributed equally to this work with: Alireza Haghighi, Amit Tiwari

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

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• Niloofar Piri,

  Affiliation Kentucky Lions Eye Center, Department of Ophthalmology and Visual Sciences, University of Louisville, Louisville, KY, United States of America

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• Gudrun Nürnberg,

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

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• Nasrollah Saleh-Gohari,

  Affiliation Genetic Department, Kerman University of Medical Sciences, Kerman, Iran

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• Amirreza Haghighi,

  Affiliation Toronto General Hospital, University of Toronto, Toronto, Canada

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• John Neidhardt,

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

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• Peter Nürnberg,

  Affiliations Cologne Center for Genomics (CCG), University of Cologne, Weyertal 115b, 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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• Wolfgang Berger

  * E-mail: berger@medgen.uzh.ch (MB); haghighimd@yahoo.com (Alireza Haghighi)

  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, Zurich, Switzerland, Neuroscience Center Zurich (ZNZ), University and ETH Zurich, Zurich, Switzerland

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