The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
De Silva, Samantha R., Arno, Gavin, Robson, Anthony G., Fakin, Ana, Pontikos, Nikolas, Mohamed, Moin D., Bird, Alan C., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.
Published in Progress in retinal and eye research (01.05.2021)
Published in Progress in retinal and eye research (01.05.2021)
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Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
Poulter, James A., Al-Araimi, Musallam, Conte, Ivan, van Genderen, Maria M., Sheridan, Eamonn, Carr, Ian M., Parry, David A., Shires, Mike, Carrella, Sabrina, Bradbury, John, Khan, Kamron, Lakeman, Phillis, Sergouniotis, Panagiotis I., Webster, Andrew R., Moore, Anthony T., Pal, Bishwanath, Mohamed, Moin D., Venkataramana, Anandula, Ramprasad, Vedam, Shetty, Rohit, Saktivel, Murugan, Kumaramanickavel, Govindasamy, Tan, Alex, Mackey, David A., Hewitt, Alex W., Banfi, Sandro, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
Vithana, Eranga N, Morgan, Patricio, Sundaresan, Periasamy, Ebenezer, Neil D, Tan, Donald T H, Mohamed, Moin D, Anand, Seema, Khine, Khin O, Venkataraman, Divya, Yong, Victor H K, Salto-Tellez, Manuel, Venkatraman, Anandalakshmi, Guo, Ke, Hemadevi, Boomiraj, Srinivasan, Muthiah, Prajna, Venkatesh, Khine, Myint, Casey, Joseph R, Inglehearn, Chris F, Aung, Tin
Published in Nature genetics (01.07.2006)
Published in Nature genetics (01.07.2006)
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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
Khan, Kamron, Rudkin, Adam, Parry, David A., Burdon, Kathryn P., McKibbin, Martin, Logan, Clare V., Abdelhamed, Zakia I.A., Muecke, James S., Fernandez-Fuentes, Narcis, Laurie, Kate J., Shires, Mike, Fogarty, Rhys, Carr, Ian M., Poulter, James A., Morgan, Joanne E., Mohamed, Moin D., Jafri, Hussain, Raashid, Yasmin, Meng, Ngy, Piseth, Horm, Toomes, Carmel, Casson, Robert J., Taylor, Graham R., Hammerton, Michael, Sheridan, Eamonn, Johnson, Colin A., Inglehearn, Chris F., Craig, Jamie E., Ali, Manir
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Re: Abegg et al.: Microcystic macular edema: retrograde maculopathy caused by optic neuropathy (Ophthalmology 2014;121:142-9)
Mahroo, Omar A., PhD, FRCOphth, Shalchi, Zaid, MRCP, Kisimbi, John, MD, MMed, Sanyiwa, Anna J., MD, MPH, Mohamed, Moin D., PhD, FRCOphth, Plant, Gordon T., MD, FRCP
Published in Ophthalmology (Rochester, Minn.) (01.08.2014)
Published in Ophthalmology (Rochester, Minn.) (01.08.2014)
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Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes
Khan, Kamron N., Mahroo, Omar A., Khan, Rehna S., Mohamed, Moin D., McKibbin, Martin, Bird, Alan, Michaelides, Michel, Tufail, Adnan, Moore, Anthony T.
Published in Progress in retinal and eye research (01.07.2016)
Published in Progress in retinal and eye research (01.07.2016)
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Unusual OCT findings in a patient with CABP4-associated cone–rod synaptic disorder
Tan, Jit Kai, Arno, Gavin, Josifova, Dragana, Mohamed, Moin D., Mahroo, Omar A.
Published in Documenta ophthalmologica (01.04.2024)
Published in Documenta ophthalmologica (01.04.2024)
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Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy
Lin, Siying, Arno, Gavin, Robson, Anthony G, Schiff, Elena R, Mohamed, Moin D, Michaelides, Michel, Webster, Andrew R, Mahroo, Omar A
Published in Eye (London) (04.12.2024)
Published in Eye (London) (04.12.2024)
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Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa
El-Asrag, Mohammed E, Corton, Marta, McKibbin, Martin, Avila-Fernandez, Almudena, Mohamed, Moin D, Blanco-Kelly, Fiona, Toomes, Carmel, Inglehearn, Chris F, Ayuso, Carmen, Ali, Manir
Published in Molecular vision (2022)
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Published in Molecular vision (2022)
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Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene
Ba-Abbad, Rola, Leys, Monique, Wang, Xinjing, Chakarova, Christina, Waseem, Naushin, Carss, Keren J, Raymond, F Lucy, Bujakowska, Kinga M, Pierce, Eric A, Mahroo, Omar A, Mohamed, Moin D, Holder, Graham E, Hummel, Marybeth, Arno, Gavin, Webster, Andrew R
Published in Investigative ophthalmology & visual science (01.10.2018)
Published in Investigative ophthalmology & visual science (01.10.2018)
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Retinal thickness measurements in sickle cell patients with HbSS and HbSC genotype
Lim, Wei S., Magan, Tejal, Mahroo, Omar A., Hysi, Pirro G., Helou, Juliana, Mohamed, Moin D.
Published in Canadian journal of ophthalmology (01.08.2018)
Published in Canadian journal of ophthalmology (01.08.2018)
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Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36
Keen, T Jeffrey, Mohamed, Moin D, McKibbin, Martin, Rashid, Yasmin, Jafri, Hussain, Maumenee, Irene H, Inglehearn, Chris F
Published in European journal of human genetics : EJHG (01.05.2003)
Published in European journal of human genetics : EJHG (01.05.2003)
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Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease
Woods, C. Geoffrey, Cox, James, Springell, Kelly, Hampshire, Daniel J., Mohamed, Moin D., McKibbin, Martin, Stern, Rowena, Raymond, F. Lucy, Sandford, Richard, Malik Sharif, Saghira, Karbani, Gulshan, Ahmed, Mustaq, Bond, Jacquelyn, Clayton, David, Inglehearn, Chris F.
Published in American journal of human genetics (01.05.2006)
Published in American journal of human genetics (01.05.2006)
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Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
Khan, Kamron, Logan, Clare V., McKibbin, Martin, Sheridan, Eamonn, Elçioglu, Nursel H., Yenice, Ozlem, Parry, David A., Fernandez-Fuentes, Narcis, Abdelhamed, Zakia I.A., Al-Maskari, Ahmed, Poulter, James A., Mohamed, Moin D., Carr, Ian M., Morgan, Joanne E., Jafri, Hussain, Raashid, Yasmin, Taylor, Graham R., Johnson, Colin A., Inglehearn, Chris F., Toomes, Carmel, Ali, Manir
Published in Human molecular genetics (15.02.2012)
Published in Human molecular genetics (15.02.2012)
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Risk factors for visual impairment in patients with sickle cell disease in London
Saidkasimova, Shohista, Shalchi, Zaid, Mahroo, Omar A, Shunmugam, Manoharan, Laidlaw, D Alistair H, Williamson, Tom H, Howard, Joanna, Mohamed, Moin D
Published in European journal of ophthalmology (01.09.2016)
Published in European journal of ophthalmology (01.09.2016)
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A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1
Al-Araimi, Musallam, Pal, Bishwanath, Poulter, James A, van Genderen, Maria M, Carr, Ian, Cudrnak, Tomas, Brown, Lawrence, Sheridan, Eamonn, Mohamed, Moin D, Bradbury, John, Ali, Manir, Inglehearn, Chris F, Toomes, Carmel
Published in Molecular vision (01.11.2013)
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Published in Molecular vision (01.11.2013)
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