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Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree

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Retinal Degenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1074))

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Acknowledgments

Dr. Ayyagari, the principal investigator and corresponding author had full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Support: This work was supported by NEI-NIH grants EY014375, NIH-R01EY021237, NIH-R01EY013198, Foundation Fighting Blindness, and Research to Prevent Blindness.

Author information

Authors and Affiliations

  1. Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA

    Pooja Biswas & Radha Ayyagari

  2. National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan

    Muhammad Asif Naeem, Shaheen N. Khan & Sheikh Riazuddin

  3. Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan

    Muhammad Hassaan Ali, Muhammad Zaman Assir & Sheikh Riazuddin

  4. National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan

    Sheikh Riazuddin

  5. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, USA

    J. Fielding Hejtmancik

  6. Department of Ophthalmology, The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    S. Amer Riazuddin

Authors
  1. Pooja Biswas
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  2. Muhammad Asif Naeem
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  3. Muhammad Hassaan Ali
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  4. Muhammad Zaman Assir
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  5. Shaheen N. Khan
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  6. Sheikh Riazuddin
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  7. J. Fielding Hejtmancik
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  8. S. Amer Riazuddin
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  9. Radha Ayyagari
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Corresponding authors

Correspondence to S. Amer Riazuddin or Radha Ayyagari .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, University of Florida, Gainesville, Florida, USA

    John D. Ash

  2. Ophthalmology and Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

  3. School of Medicine Beckman Vision Center, University of California San Francisco, San Francisco, California, USA

    Matthew M. LaVail

  4. Departments of Ophthalmology and Cell Biology, Duke Eye Center, Duke University Medical Center, Durham, North Carolina, USA

    Catherine Bowes Rickman

  5. Division of Ophthalmology, Case Western Reserve University, Cleveland, Ohio, USA

    Joe G. Hollyfield

  6. Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland

    Christian Grimm

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Biswas, P. et al. (2018). Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree. In: Ash, J., Anderson, R., LaVail, M., Bowes Rickman, C., Hollyfield, J., Grimm, C. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 1074. Springer, Cham. https://doi.org/10.1007/978-3-319-75402-4_27

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