Khan MI

Employment

• Radboud University Nijmegen Medical Centre Postdoctoral research fellow
  2013 - 2018
• Radboud University Nijmegen Medical Centre Researcher
  2009 - 2013
• COMSATS University Islamabad Research Scholar
  2005 - 2009
• Pakistan Council of Scientific and Industrial Research Environmental Analytical Laboratory Research associate
  2004 - 2005

Education

• Radboud Universiteit Ph.D. Medical Sciences
  2009 - 2013

Projects & Funding

Projects & funding information is unavailable.

Publications (73)

• A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
  Human Mutation 2020 132 citations DOI: 10.1002/humu.23903
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• Longitudinal study of RPE65-associated inherited retinal disease
  Retina 2020 18 citations DOI: 10.1097/iae.0000000000002681
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• A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
  Nature Communications 2019 40 citations DOI: 10.1038/s41467-019-10746-4
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• Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland
  Genes 2019 29 citations DOI: 10.3390/genes10120959
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• Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease
  Human Mutation 2019 49 citations DOI: 10.1002/humu.23787
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• Identification of a Novel ZNF469 Mutation in a Pakistani Family With Brittle Cornea Syndrome
  Cornea 2019 13 citations DOI: 10.1097/ico.0000000000001828
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• Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
  Molecular vision 2019
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• Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
  Genetics in medicine : official journal of the American College of Medical Genetics 2019 200 citations DOI: 10.1038/s41436-018-0414-9
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• Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families
  Molecular Vision 2019
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• Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations
  Translational Vision Science & Technology 2019 26 citations DOI: 10.1167/tvst.8.6.45
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