Ophthalmology
Volume 118, Issue 1 , Pages 160-167.e3 , January 2011

Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip

  • Judith C. Booij, MD, PhD

      Affiliations

    • Departments of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    • ,
  • Arne Bakker, BSc

      Affiliations

    • Departments of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    • ,
  • Jamilia Kulumbetova, MD, PhD

      Affiliations

    • Departments of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    • ,
  • Youssef Moutaoukil, BSc

      Affiliations

    • Departments of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    • ,
  • Bert Smeets, PhD

      Affiliations

    • Clinical Genetics University Maastricht, The Netherlands
    • ,
  • Joke Verheij, MD, PhD

      Affiliations

    • Genetics, University Medical Center, Groningen, The Netherlands
    • ,
  • Hester Y. Kroes, MD, PhD

      Affiliations

    • Medical Genetics, University Medical Center Utrecht, The Netherlands
    • ,
  • Caroline C.W. Klaver, MD, PhD

      Affiliations

    • Ophthalmology, Erasmus Medical Centre Rotterdam, The Netherlands
    • ,
  • Mary van Schooneveld, MD, PhD

      Affiliations

    • Departments of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    • ,
  • Arthur A.B. Bergen, PhD

      Affiliations

    • Departments of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    • Clinical Genetics, Academic Medical Centre Amsterdam, The Netherlands
    • Ophthalmology, Academic Medical Centre Amsterdam, The Netherlands
    • Corresponding Author InformationCorrespondence: Arthur A. B. Bergen, NIN, Department of Clinical and Molecular Ophthalmogenetics, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands
    • ,
  • Ralph J. Florijn, PhD

      Affiliations

    • Departments of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands

Received 19 October 2009 ,Revised 14 April 2010 ,Accepted 14 April 2010.

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 Manuscript no. 2009-1455.

 Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

 Funded by the Algemene Nederlandse Vereniging ter Voorkoming van Blindheid, Landelijke Stichting voor Blinden en Slechtzienden, Rotterdamse Vereniging Blindenbelangen, Stichting Blindenpenning, Stichting Oogfonds Nederland, and Gelderse Blindenstichting.

PII: S0161-6420(10)00450-1

doi: 10.1016/j.ophtha.2010.04.022

Ophthalmology
Volume 118, Issue 1 , Pages 160-167.e3 , January 2011

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