Amer Riazuddin

Research output

Research output per year 2004 2010 2012 2015 2016 2017 2018 2021 2023

• 112 Article
• 6 Chapter
• 3 Conference contribution
• 3 Comment/debate
• 5 More
  • 3 Review article
  • 2 Letter

Research output per year

Research output per year

Search results

• 2023

  Long-term PM2.5 exposure disrupts corneal epithelial homeostasis by impairing limbal stem/progenitor cells in humans and rat models

  Hao, S., Chen, Z., Gu, Y., Chen, L., Sheng, F., Xu, Y., Wu, D., Han, Y., Lu, B., Chen, S., Zhao, W., Yin, H., Wang, X., Riazuddin, S. A., Lou, X., Fu, Q. & Yao, K., Dec 2023, In: Particle and Fibre Toxicology. 20, 1, 36.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • RNA Sequencing 100%
  • Permeability 47%
  • Stem Cells 44%
  • Homeostasis 44%
  • Fiber 38%
• 2022

  A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

  Irum, B., Kabir, F., Shoshany, N., Khan, S. Y., Rauf, B., Naeem, M. A., Qaiser, T. A., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Dec 2022, In: Human Genome Variation. 9, 1, 31.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Dideoxynucleotide DNA Sequencing 100%
  • Cataract 54%
  • Chromosome Walking 52%
  • Mutation 49%
  • Exons 48%

• A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 (Asrgl1) Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype

  Biswas, P., Berry, A. M., Zawaydeh, Q., Bartsch, D. U. G., Raghavendra, P. B., Hejtmancik, J. F., Khan, N. W., Riazuddin, S. A. & Ayyagari, R., Aug 2022, In: Genes. 13, 8, 1461.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Asparaginase 100%
  • Retinal Degeneration 90%
  • Peptide Hydrolases 61%
  • Phenotype 44%
  • Retina 27%

• CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago

  Ma, Y., Wang, X., Shoshany, N., Jiao, X., Lee, A., Ku, G., Baple, E. L., Fasham, J., Nadeem, R., Naeem, M. A., Riazuddin, S., Riazuddin, S. A., Crosby, A. H. & Hejtmancik, J. F., Mar 22 2022, In: Frontiers in Genetics. 13, 804924.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mutation 45%
  • Haplotypes 42%
  • Single Nucleotide Polymorphism 25%
  • Genetic Recombination 21%
  • Population Growth 18%

• Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma

  Rauf, B., Khan, S. Y., Jiao, X., Irum, B., Ashfaq, R., Zehra, M., Khan, A. A., Naeem, M. A., Shahzad, M., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Dec 2022, In: Scientific reports. 12, 1, 17218.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Whole Exome Sequencing 100%
  • Glaucoma 79%
  • Mutation 20%
  • Exome 14%
  • Datasets 9%

• The role of FYCO1-dependent autophagy in lens fiber cell differentiation

  Khan, S., Ali, M., Kabir, F., Na, C. H., Delannoy, M., Ma, Y., Qiu, C., Costello, M. J., Hejtmancik, J. F. & Riazuddin, S. A., 2022, In: Autophagy. 18, 9, p. 2198-2215 18 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Autophagy 100%
  • Lenses 98%
  • Cell Differentiation 84%
  • Organelles 59%
  • Cataract 58%
• 2021

  Aged Nrf2-null mice develop all major types of age-related cataracts

  Rowan, S., Jiang, S., Francisco, S. G., Pomatto, L. C. D., Ma, Z., Jiao, X., Campos, M. M., Aryal, S., Patel, S. D., Mahaling, B., Riazuddin, S. A., Duh, E. J., Lachke, S. A., Hejtmancik, J. F., de Cabo, R., FitzGerald, P. G. & Taylor, A., Dec 2021, In: Investigative Ophthalmology and Visual Science. 62, 15, 10.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cataract 100%
  • Lenses 63%
  • Caloric Restriction 33%
  • Diet 27%
  • Antioxidants 19%

• A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes

  Ali, M., Khan, S. Y., Rodrigues, T. A., Francisco, T., Jiao, X., Qi, H., Kabir, F., Irum, B., Rauf, B., Khan, A. A., Mehmood, A., Naeem, M. A., Assir, M. Z., Ali, M. H., Shahzad, M., Abu-Amero, K. K., Akram, S. J., Akram, J., Riazuddin, S., Riazuddin, S., & 5 othersRobinson, M. L., Baes, M., Azevedo, J. E., Hejtmancik, J. F. & Riazuddin, S. A., Apr 2021, In: Human genetics. 140, 4, p. 649-666 18 p.

  Research output: Contribution to journal › Article › peer-review

  • Peroxisomal Targeting Signals 100%
  • Peroxisomes 75%
  • Alleles 43%
  • Proteins 22%
  • Missense Mutation 17%

• Cigarette smoke triggers loss of corneal endothelial cells and disruption of descemet's membrane proteins in Mice

  Ali, M., Khan, S. Y., Jang, Y., Na, C. H., Talbot, C. C., Gottsch, J. D., Handa, J. T. & Riazuddin, S. A., Mar 2021, In: Investigative Ophthalmology and Visual Science. 62, 3, 3.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Corneal Endothelial Cell Loss 100%
  • Descemet Membrane 84%
  • Smoke 58%
  • Tobacco Products 57%
  • Corneal Endothelium 54%

• Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis

  Biswas, P., Villanueva, A. L., Soto-Hermida, A., Duncan, J. L., Matsui, H., Borooah, S., Kumarov, B., Richard, G., Khan, S. Y., Branham, K., Huang, B., Suk, J., Bakall, B., Goldberg, J. L., Gabriel, L., Khan, N. W., Raghavendra, P. B., Zhao, J., Devalaraja, S., Huynh, A., & 10 othersAlapati, A., Zawaydeh, Q., Weleber, R. G., Heckenlively, J. R., Hejtmancik, J. F., Riazuddin, S., Sieving, P. A., Riazuddin, S. A., Frazer, K. A. & Ayyagari, R., Oct 18 2021, In: PLoS genetics. 17, 10, e1009848.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Retinal Dystrophies 100%
  • Pedigree 76%
  • pedigree 70%
  • genome 65%
  • Sequence Analysis 65%

• De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

  UCLA Clinical Genomics Center, Jul 1 2021, In: American journal of human genetics. 108, 7, p. 1330-1341 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adaptor Protein Complex 1 100%
  • Neurodevelopmental Disorders 94%
  • Intellectual Disability 75%
  • Epilepsy 67%
  • Zebrafish 54%

• Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model

  Biswas, P., Borooah, S., Matsui, H., Voronchikhina, M., Zhou, J., Zawaydeh, Q., Raghavendra, P. B., Ferreyra, H., Riazuddin, S. A., Wahlin, K., Frazer, K. A. & Ayyagari, R., Feb 2021, In: Human mutation. 42, 2, p. 189-199 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Retinal Degeneration 100%
  • Protein-Tyrosine Kinases 73%
  • Mutation 45%
  • Exons 40%
  • Whole Genome Sequencing 37%

• Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach

  Khan, S. Y., Ali, M., Jang, Y., Ryu, T., Schwab, A. J., Ingram, B. O., Cable, P. H., Na, C. H., Handa, J. T. & Riazuddin, S. A., Dec 2021, In: Scientific reports. 11, 1, 18801.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Smoke 100%
  • Lenses 98%
  • Tobacco Products 98%
  • Metabolome 26%
  • Proteome 24%

• Metabolome profiling of the developing murine lens

  Khan, S. Y., Ali, M. & Riazuddin, S. A., Jan 2021, In: Experimental eye research. 202, 108343.

  Research output: Contribution to journal › Article › peer-review

  • Metabolome 100%
  • Lenses 83%
  • Metabolomics 27%
  • Amino Acids 17%
  • Lipids 16%

• Pluripotent stem cell–derived corneal endothelial cells as an alternative to donor corneal endothelium in keratoplasty

  Ali, M., Khan, S. Y., Gottsch, J. D., Hutchinson, E. K., Khan, A. & Riazuddin, S. A., Sep 14 2021, In: Stem Cell Reports. 16, 9, p. 2320-2335 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Corneal Endothelium 100%
  • Corneal Transplantation 90%
  • Human Embryonic Stem Cells 90%
  • Monolayer 55%
  • Endothelial Cells 55%
• 2020

  Generation and proteome profiling of PBMC-originated, iPSC-derived lentoid bodies

  Ali, M., Kabir, F., Raskar, S., Renuse, S., Na, C. H., Delannoy, M., Khan, S. Y. & Riazuddin, S. A., Jul 2020, In: Stem Cell Research. 46, 101813.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Induced Pluripotent Stem Cells 100%
  • Proteome 92%
  • Crystallins 86%
  • Blood Cells 72%
  • Lenses 62%

• Modulating EGFR-MTORC1-autophagy as a potential therapy for persistent fetal vasculature (PFV) disease

  Yazdankhah, M., Shang, P., Ghosh, S., Bhutto, I. A., Stepicheva, N., Grebe, R., Hose, S., Weiss, J., Luo, T., Mishra, S., Riazuddin, S. A., Ghosh, A., Handa, J. T., Lutty, G. A., Zigler, J. S. & Sinha, D., Jun 2 2020, In: Autophagy. 16, 6, p. 1130-1142 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Fetal Diseases 100%
  • Mechanistic Target of Rapamycin Complex 1 88%
  • Autophagy 67%
  • ErbB Receptors 67%
  • Phosphotransferases 54%
  2 Scopus citations

• Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

  Nadeem, R., Kabir, F., Li, J., Gradstein, L., Jiao, X., Rauf, B., Naeem, M. A., Assir, M. Z., Riazuddin, S., Ayyagari, R., Hejtmancik, J. F. & Riazuddin, S. A., Dec 1 2020, In: Human Genome Variation. 7, 1, 14.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Dideoxynucleotide DNA Sequencing 70%
  • Mutation 69%
  • Exons 68%
  • Night Blindness 61%
  • Retinal Dystrophies 58%
  1 Scopus citations

• Mutations in FYCO1 identified in families with congenital cataracts

  Iqbal, H., Khan, S. Y., Zhou, L., Irum, B., Ali, M., Ahmed, M. R., Shahzad, M., Ali, M. H., Naeem, M. A., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., 2020, In: Molecular vision. 26, p. 334-344 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Cataract 100%
  • Mutation 59%
  • Microsatellite Repeats 32%
  • Genetic Load 25%
  • Haplotypes 14%
  1 Scopus citations

• Novel mutations in ltbp2 identified in familial cases of primary congenital glaucoma

  Rauf, B., Irum, B., Khan, S. Y., Kabir, F., Naeem, M. A., Riazuddin, S., Ayyagari, R. & Amer Riazuddin, S., Feb 2020, In: Molecular vision. 26, p. 14-25 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Glaucoma 100%
  • Mutation 59%
  • Chromosomes 41%
  • Trabecular Meshwork 35%
  • Slit Lamp Microscopy 34%
  1 Scopus citations

• Whole genome sequencing data of multiple individuals of Pakistani descent

  Khan, S. Y., Ali, M., Lee, M. C. W., Ma, Z., Biswas, P., Khan, A. A., Naeem, M. A., Riazuddin, S., Riazuddin, S., Ayyagari, R., Hejtmancik, J. F. & Riazuddin, S. A., Dec 1 2020, In: Scientific Data. 7, 1, 350.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Sequencing 100%
  • Genome 91%
  • Genomics 86%
  • Descent 84%
  • Genotype 34%
• 2019

  Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family

  Jiao, X., Khan, S. Y., Kaul, H., Butt, T., Naeem, M. A., Riazuddin, S., Fielding Hejtmancik, J. & Amer Riazuddin, S., Dec 1 2019, In: PloS one. 14, 12, e0225010.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cataract 100%
  • Missense Mutation 73%
  • Lenses 67%
  • Exons 59%
  • Genome 48%
  2 Scopus citations

• Comparative transcriptome analysis of hESC- and iPSC-derived lentoid bodies

  Ali, M., Kabir, F., Thomson, J. J., Ma, Y., Qiu, C., Delannoy, M., Khan, S. Y. & Riazuddin, S. A., Dec 1 2019, In: Scientific reports. 9, 1, 18552.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Human Embryonic Stem Cells 100%
  • Induced Pluripotent Stem Cells 93%
  • Gene Expression Profiling 85%
  • Lenses 39%
  • Transcriptome 38%
  4 Scopus citations
• 2018

  A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

  Chen, Y., Huang, L., Jiao, X., Riazuddin, S., Riazuddin, S. A. & Hetmancik, J. F., Jan 26 2018, In: Human genomics. 12, 1, 35.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • lecithin-retinol acyltransferase 100%
  • Retinol 73%
  • Lecithin 63%
  • Mutation 47%
  • Genetic Vectors 24%
  1 Scopus citations

• Comparative transcriptome analysis of hESC- and iPSC-derived corneal endothelial cells

  Ali, M., Khan, S. Y., Kabir, F., Gottsch, J. D. & Riazuddin, S. A., Nov 2018, In: Experimental eye research. 176, p. 252-257 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Human Embryonic Stem Cells 100%
  • Induced Pluripotent Stem Cells 93%
  • Gene Expression Profiling 85%
  • Endothelial Cells 61%
  • Transcriptome 19%
  2 Scopus citations

• Data descriptor: Whole genome sequencing data for two individuals of Pakistani descent

  Khan, S. Y., Kabir, F., M’Hamdi, O., Jiao, X., Naeem, M. A., Khan, S. N., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Sep 11 2018, In: Scientific Data. 5, 180174.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Sequencing 100%
  • Descriptors 97%
  • Genome 91%
  • Genomics 86%
  • Descent 84%
  1 Scopus citations

• Generation and proteome profiling of PBMC-originated, iPSC-derived corneal endothelial cells

  Ali, M., Khan, S. Y., Vasanth, S., Ahmed, M. R., Chen, R., Na, C. H., Thomson, J. J., Qiu, C., Gottsch, J. D. & Riazuddin, S. A., May 2018, In: Investigative Ophthalmology and Visual Science. 59, 6, p. 2437-2444 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Induced Pluripotent Stem Cells 100%
  • Proteome 92%
  • Blood Cells 72%
  • Endothelial Cells 65%
  • Corneal Endothelium 54%
  9 Scopus citations

• Identification of a novel TCF4 isoform in the human corneal endothelium

  Eghrari, A. O., Vasanth, S., Gapsis, B. C., Bison, H., Jurkunas, U., Amer Riazuddin, S. & Gottsch, J. D., 2018, In: Cornea. 37, 7, p. 899-903 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Corneal Endothelium 100%
  • Complementary DNA 40%
  • Fuchs' Endothelial Dystrophy 19%
  • RNA 17%
  • Retinal Pigments 15%
  1 Scopus citations

• Identification of novel transcripts and peptides in developing murine lens

  Khan, S. Y., Ali, M., Kabir, F., Chen, R., Na, C. H., Lee, M. C. W., Pourmand, N., Hackett, S. F. & Riazuddin, S. A., Dec 1 2018, In: Scientific reports. 8, 1, 11162.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Lenses 100%
  • RNA Splice Sites 88%
  • Peptides 67%
  • Proteome 36%
  • Transcriptome 32%
  2 Scopus citations

• IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis

  Chekuri, A., Guru, A. A., Biswas, P., Branham, K., Borooah, S., Soto-Hermida, A., Hicks, M., Khan, N. W., Matsui, H., Alapati, A., Raghavendra, P. B., Roosing, S., Sarangapani, S., Mathavan, S., Telenti, A., Heckenlively, J. R., Riazuddin, S. A., Frazer, K. A., Sieving, P. A. & Ayyagari, R., Jul 1 2018, In: Human genetics. 137, 6-7, p. 447-458 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Retinal Degeneration 100%
  • Carrier Proteins 68%
  • Mutation 45%
  • Clustered Regularly Interspaced Short Palindromic Repeats 31%
  • HeLa Cells 26%
  5 Scopus citations

• Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

  Li, L., Jiao, X., D’Atri, I., Ono, F., Nelson, R., Chan, C. C., Nakaya, N., Ma, Z., Ma, Y., Cai, X., Zhang, L., Lin, S., Hameed, A., Chioza, B. A., Hardy, H., Arno, G., Hull, S., Khan, M. I., Fasham, J., Harlalka, G. V., & 21 othersMichaelides, M., Moore, A. T., Coban Akdemir, Z. H., Jhangiani, S., Lupski, J. R., Cremers, F. P. M., Qamar, R., Salman, A., Chilton, J., Self, J., Ayyagari, R., Kabir, F., Naeem, M. A., Ali, M., Akram, J., Sieving, P. A., Riazuddin, S., Baple, E. L., Riazuddin, S. A., Crosby, A. H. & Hejtmancik, J. F., Aug 2018, In: PLoS genetics. 14, 8, e1007504.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • retinitis pigmentosa 100%
  • chloride channels 87%
  • Chloride Channels 79%
  • cones (retina) 72%
  • Zebrafish 64%
  5 Scopus citations

• Pilot study of audiometric patterns in fuchs corneal dystrophy

  Reed, N. S., Deal, J. A., Huddle, M. G., Betz, J. F., Bailey, B. E., McGlumphy, E. J., Eghrari, A. O., Riazuddin, S. A., Lin, F. R. & Gottsch, J. D., 2018, In: Journal of Speech, Language, and Hearing Research. 61, 10, p. 2604-2608 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Fuchs' Endothelial Dystrophy 100%
  • Hearing 57%
  • Population Control 32%
  • audiometry 25%
  • Hearing Impairment 23%
  1 Scopus citations

• Proteome profiling of developing murine lens through mass spectrometry

  Khan, S. Y., Ali, M., Kabir, F., Renuse, S., Na, C. H., Conover Talbot, C., Hackett, S. F. & Amer Riazuddin, S., Jan 2018, In: Investigative Ophthalmology and Visual Science. 59, 1, p. 100-107 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Proteome 100%
  • Lenses 90%
  • Mass Spectrometry 86%
  • Proteins 26%
  • Crystalline Lens 15%
  11 Scopus citations
• 2017

  A mutation in IFT43 causes non-syndromic recessive retinal degeneration

  Biswas, P., Duncan, J. L., Ali, M., Matsui, H., Naeem, M. A., Raghavendra, P. B., Frazer, K. A., Arts, H. H., Riazuddin, S., Akram, J., Hejtmancik, F. F., Riazuddin, A. A. & Ayyagari, R., Dec 1 2017, In: Human molecular genetics. 26, 23, p. 4741-4751 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Retinal Degeneration 100%
  • Carrier Proteins 68%
  • Mutation 45%
  • Madin Darby Canine Kidney Cells 37%
  • Retina 26%
  5 Scopus citations

• Automated Retroillumination Photography Analysis for Objective Assessment of Fuchs Corneal Dystrophy

  Eghrari, A. O., Mumtaz, A. A., Garrett, B., Rezaei, M., Akhavan, M. S., Riazuddin, S. A. & Gottsch, J. D., Jan 1 2017, In: Cornea. 36, 1, p. 44-47 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Fuchs' Endothelial Dystrophy 100%
  • Photography 74%
  • Cornea 60%
  • Ophthalmologists 35%
  • Noise 29%
  9 Scopus citations

• CTG18.1 expansion in TCF4 among African Americans with fuchs’ corneal dystrophy

  Eghrari, A. O., Vahedi, S., Afshari, N. A., Riazuddin, S. A. & Gottsch, J. D., Dec 2017, In: Investigative Ophthalmology and Visual Science. 58, 14, p. 6046-6049 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Fuchs' Endothelial Dystrophy 100%
  • African Americans 60%
  • European Continental Ancestry Group 39%
  • Trinucleotide Repeats 19%
  • Cataract 13%
  5 Scopus citations

• CTG18.1 Expansion in TCF4 Increases Likelihood of Transplantation in Fuchs Corneal Dystrophy

  Eghrari, A. O., Vasanth, S., Wang, J., Vahedi, F., Riazuddin, S. A. & Gottsch, J. D., Jan 1 2017, In: Cornea. 36, 1, p. 40-43 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Fuchs' Endothelial Dystrophy 100%
  • Corneal Transplantation 77%
  • Trinucleotide Repeats 65%
  • Transplantation 48%
  • Alleles 23%
  13 Scopus citations

• Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

  Biswas, P., Duncan, J. L., Maranhao, B., Kozak, I., Branham, K., Gabriel, L., Lin, J. H., Barteselli, G., Navani, M., Suk, J., Parke, M., Schlechter, C., Weleber, R. G., Heckenlively, J. R., Dagnelie, G., Lee, P., Amerriazuddin, S. & Ayyagari, R., Apr 2017, In: Physiological Genomics. 49, 4, p. 216-229 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Retinal Degeneration 100%
  • Exome 97%
  • Pedigree 89%
  • Genetic Association Studies 86%
  • Mutation 45%
  10 Scopus citations

• Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

  Afshari, N. A., Igo, R. P., Morris, N. J., Stambolian, D., Sharma, S., Pulagam, V. L., Dunn, S., Stamler, J. F., Truitt, B. J., Rimmler, J., Kuot, A., Croasdale, C. R., Qin, X., Burdon, K. P., Riazuddin, S. A., Mills, R., Klebe, S., Minear, M. A., Zhao, J., Balajonda, E., & 16 othersRosenwasser, G. O., Baratz, K. H., Mootha, V. V., Patel, S. V., Gregory, S. G., Bailey-Wilson, J. E., Price, M. O., Price, F. W., Craig, J. E., Fingert, J. H., Gottsch, J. D., Aldave, A. J., Klintworth, G. K., Lass, J. H., Li, Y. J. & Iyengar, S. K., Mar 30 2017, In: Nature communications. 8, 14898.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Fuchs' Endothelial Dystrophy 100%
  • genome 83%
  • loci 71%
  • Genome-Wide Association Study 66%
  • Transparency 63%
  52 Scopus citations

• Homozygosity mapping and genetic analysis of autosomal recessive retinal dystrophies in 144 consanguineous Pakistani families

  Li, L., Chen, Y., Jiao, X., Jin, C., Jiang, D., Tanwar, M., Ma, Z., Huang, L., Ma, X., Sun, W., Chen, J., Ma, Y., M’Hamdi, O., Govindarajan, G., Cabrera, P. E., Li, J., Gupta, N., Naeem, M. A., Khan, S. N., Riazuddin, S., & 5 othersAkram, J., Ayyagari, R., Sieving, P. A., Amer Riazuddin, S. & Fielding Hejtmancik, J., Apr 2017, In: Investigative Ophthalmology and Visual Science. 58, 4, p. 2218-2238 21 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Retinal Dystrophies 100%
  • Retinal Degeneration 86%
  • Consanguinity 29%
  • Genes 28%
  • Mutation 19%
  19 Scopus citations

• Molecular genetic analysis of pakistani families with autosomal recessive congenital cataracts by homozygosity screening

  Chen, J., Wang, Q., Cabrera, P. E., Zhong, Z., Sun, W., Jiao, X., Chen, Y., Govindarajan, G., Naeem, M. A., Khan, S. N., Ali, M. H., Assir, M. Z., Rahman, F. U., Qazi, Z. A., Riazuddin, S., Akram, J., Riazuddin, S. A. & Hejtmancik, J. F., Apr 2017, In: Investigative Ophthalmology and Visual Science. 58, 4, p. 2207-2217 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cataract 100%
  • Molecular Biology 86%
  • Mutation 33%
  • Pakistan 26%
  • Genes 23%
  27 Scopus citations
• 2016

  A Common ancestral mutation in CRYBB3 identified in multiple consanguineous families with congenital cataracts

  Jiao, X., Kabir, F., Irum, B., Khan, A. O., Wang, Q., Li, D., Khan, A. A., Husnain, T., Akram, J., Riazuddin, S., Hejtmancik, J. F. & Riazuddin, S. A., Jun 2016, In: PloS one. 11, 6, e0157005.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • cataract 100%
  • Ophthalmological 93%
  • Cataract 73%
  • Mutation 66%
  • Lens 61%
  10 Scopus citations

• A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration

  Biswas, P., Chavali, V. R. M., Agnello, G., Stone, E., Chakarova, C., Duncan, J. L., Kannabiran, C., Homsher, M., Bhattacharya, S. S., Naeem, M. A., Kimchi, A., Sharon, D., Iwata, T., Riazuddin, S., Reddy, G. B., Hejtmancik, J. F., Georgiou, G., Riazuddin, S. A., Ayyagari, R. & Riazuddin, S., Jun 15 2016, In: Human molecular genetics. 25, 12, p. 2483-2497 15 p.

  Research output: Contribution to journal › Article › peer-review

  • Asparaginase 100%
  • Retinal Degeneration 90%
  • Missense Mutation 75%
  • Retinal Dystrophies 41%
  • Mutation 32%
  6 Scopus citations

• A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

  Rauf, B., Irum, B., Kabir, F., Firasat, S., Naeem, M. A., Khan, S. N., Husnain, T., Riazuddin, S., Akram, J. & Amer Riazuddin, S., Aug 4 2016, In: Human Genome Variation. 3, 16021.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Glaucoma 100%
  • Mutation 89%
  • Dideoxynucleotide DNA Sequencing 60%
  • Slit Lamp Microscopy 27%
  • Frameshift Mutation 25%
  12 Scopus citations

• Deletion at the GCNT2 locus causes autosomal recessive congenital cataracts

  Irum, B., Khan, S. Y., Ali, M., Daud, M., Kabir, F., Rauf, B., Fatima, F., Iqbal, H., Khan, A. O., Obaisi, S. A., Naeem, M. A., Nasir, I. A., Khan, S. N., Husnain, T., Riazuddin, S., Akram, J., Eghrari, A. O. & Riazuddin, S. A., Dec 2016, In: PloS one. 11, 12, e0167562.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Transferases 100%
  • Cataract 90%
  • Chromosome Walking 29%
  • INDEL Mutation 24%
  • Eye Abnormalities 21%
  4 Scopus citations

• Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2

  Eghrari, A. O., Riazuddin, S. A. & Gottsch, J. D., 2016, In: Cornea. 35, 5, p. 587-591 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Corneal Edema 100%
  • Collagen Type VIII 45%
  • Phenotype 44%
  • Descemet Stripping Endothelial Keratoplasty 37%
  • Astigmatism 29%

• FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

  Khan, S. Y., Vasanth, S., Kabir, F., Gottsch, J. D., Khan, A. O., Chaerkady, R., Lee, M. C. W., Leitch, C. C., Ma, Z., Laux, J., Villasmil, R., Khan, S. N., Riazuddin, S., Akram, J., Cole, R. N., Conover Talbot, C., Pourmand, N., Zaghloul, N. A., Fielding Hejtmancik, J. & Amer Riazuddin, S., Apr 6 2016, In: Nature communications. 7, 10953.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Peters anomaly 100%
  • Ocular 74%
  • Apoptotic 67%
  • Autophagy 56%
  • Lenses 55%
  24 Scopus citations

• Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases

  Kabir, F., Ullah, I., Ali, S., Gottsch, A. D. H., Naeem, M. A., Assir, M. Z., Khan, S. N., Akram, J., Riazuddin, S., Ayyagari, R., Fielding Hejtmancik, J. & Amer Riazuddin, S., Jun 10 2016, In: Molecular vision. 22, p. 610-625 16 p.

  Research output: Contribution to journal › Article › peer-review

  • Loss of Function Mutation 92%
  • Exons 68%
  • Phenotype 37%
  • Mutation 34%
  • Genome 27%
  11 Scopus citations

• Mutation in LIM2 is responsible for autosomal recessive congenital cataracts

  Irum, B., Khan, S. Y., Ali, M., Kaul, H., Kabir, F., Rauf, B., Fatima, F., Nadeem, R., Khan, A. O., Al Obaisi, S., Naeem, M. A., Nasir, I. A., Khan, S. N., Husnain, T., Riazuddin, S., Akram, J., Eghrari, A. O. & Riazuddin, S. A., Nov 2016, In: PloS one. 11, 11, e0162620.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Lenses 100%
  • Cataract 98%
  • Membrane Proteins 87%
  • Mutation 59%
  • Eye 43%
  12 Scopus citations

• Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa

  Ullah, I., Kabir, F., Gottsch, C. B. S., Naeem, M. A., Guru, A. A., Ayyagari, R., Khan, S. N., Riazuddin, S., Akram, J. & Riazuddin, S. A., Nov 17 2016, In: Human Genome Variation. 3, 16036.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Type 6 Cyclic Nucleotide Phosphodiesterases 100%
  • Retinal 65%
  • Mutation 48%
  • Human Genome 29%
  • Disorder 24%
  3 Scopus citations