Sheikh Amer Riazuddin

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99 Article
3 Chapter
3 Conference contribution
3 Comment/debate
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- 2 Letter
- 1 Review article

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 others, Robinson, 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
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
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
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
Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability (Molecular Psychiatry, (2017), 22, 11, (1604-1614), 10.1038/mp.2016.109)
UK10K, Nov 1 2020, In: Molecular psychiatry. 25, 11, p. 3101-3102 2 p.
Research output: Contribution to journal › Comment/debate › peer-review

Sheikh Amer Riazuddin

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

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

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

Metabolome profiling of the developing murine lens

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability (Molecular Psychiatry, (2017), 22, 11, (1604-1614), 10.1038/mp.2016.109)

Sheikh Amer Riazuddin

Fingerprint

Network

Research output

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

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

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

Metabolome profiling of the developing murine lens

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability (Molecular Psychiatry, (2017), 22, 11, (1604-1614), 10.1038/mp.2016.109)