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S. Amer Riazuddin

Johns Hopkins University School of Medicine
University of the Punjab

126

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2385

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Cigarette Smoke Triggers Loss of Corneal Endothelial Cells and Disruption of Descemet's Membrane Proteins in Mice.

2021 Investigative Ophthalmology & Visual Science
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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

2021 PLOS Genetics
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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

2021 American Journal of Human Genetics
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Pluripotent Stem Cell-derived Corneal Endothelial Cells for Donor-Free Keratoplasty

2021 Investigative Ophthalmology & Visual Science
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Pluripotent stem cell-derived corneal endothelial cells as an alternative to donor corneal endothelium in keratoplasty.

2021 Stem cell reports
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Identification of causative mutations in ten pedigrees with inherited retinal degeneration by whole genome analysis (WGS)

2021 Investigative Ophthalmology & Visual Science
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Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.

2020 Human genome variation
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Mutations in FYCO1 identified in families with congenital cataracts.

2020 Molecular Vision
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Whole genome sequencing data of multiple individuals of Pakistani descent.

2020 Scientific Data
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Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.

2020 Human Mutation
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