Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

• Maleeha Maria ,

  Contributed equally to this work with: Maleeha Maria, Muhammad Ajmal, Maleeha Azam

  Affiliations Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan, Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

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• Muhammad Ajmal ,

  Contributed equally to this work with: Maleeha Maria, Muhammad Ajmal, Maleeha Azam

  Affiliations Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan, Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

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• Maleeha Azam ,

  Contributed equally to this work with: Maleeha Maria, Muhammad Ajmal, Maleeha Azam

  Affiliations Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan, Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

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• Nadia Khalida Waheed,

  Affiliation Tufts University Medical School, Boston, Massachusetts, United States of America

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• Sorath Noorani Siddiqui,

  Affiliation Al-Shifa Eye Trust Hospital, Rawalpindi, Pakistan

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• Bilal Mustafa,

  Affiliation Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan

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• Humaira Ayub,

  Affiliation Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan

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• Liaqat Ali,

  Affiliation Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan

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• Shakeel Ahmad,

  Affiliation Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan

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• Shazia Micheal,

  Affiliations Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands, Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands

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• Alamdar Hussain,

  Affiliation Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan

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• Syed Tahir Abbas Shah,

  Affiliation Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan

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• Syeda Hafiza Benish Ali,

  Affiliations Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan, Institute of Pure and Applied Biology, Bahauddin Zakariya University, Multan, Pakistan

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• Waqas Ahmed,

  Affiliations Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan, University of Haripur, Haripur, Pakistan

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• Yar Muhammad Khan,

  Affiliation Department of Chemistry, University of Science and Technology, Bannu, Pakistan

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• Anneke I. den Hollander,

  Affiliations Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands, Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands, Radboud Institute for Molecular Life sciences, Radboud University Nijmegen, Nijmegen, the Netherlands

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• Lonneke Haer-Wigman,

  Affiliations Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands, Radboud Institute for Molecular Life sciences, Radboud University Nijmegen, Nijmegen, the Netherlands

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• Rob W. J. Collin,

  Affiliations Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands, Radboud Institute for Molecular Life sciences, Radboud University Nijmegen, Nijmegen, the Netherlands

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• Muhammad Imran Khan ,

  ¶^‡ These authors also contributed equally to this work.

  Affiliations Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan, Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands

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• Raheel Qamar ,

  ¶^‡ These authors also contributed equally to this work.

  Affiliations Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan, Al-Nafees Medical College & Hospital, Isra University, Islamabad, Pakistan

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•  [ ... ],
• Frans P. M. Cremers

  * E-mail: Frans.Cremers@radboudumc.nl

  ¶^‡ These authors also contributed equally to this work.

  Affiliations Department of Biosciences, Commission on Science and Technology for Sustainable Development in the South Institute of Information Technology, Islamabad, Pakistan, Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands, Radboud Institute for Molecular Life sciences, Radboud University Nijmegen, Nijmegen, the Netherlands

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