An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village

by Pantoja-Melendez, Carlos, Ali, Manir, Zenteno, Juan C.
Published 2013

The D153del Mutation in GNB3 Gene Causes Tissue Specific Signalling Patterns and an Abnormal Renal Morphology in Rge Chickens

by Tummala, Hemanth, Fleming, Stewart, Hocking, Paul M., Wehner, Daniel, Naseem, Zahid, Ali, Manir, Inglehearn, Christopher F., Zhelev, Nikolai, Lester, Douglas H.
Published 2011

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

by Carr, Ian M., Diggle, Christine P., Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T., Markham, Alexander F., Anwar, Rashida, Dobbie, Angus, Pena, Sergio D.J., Ali, Manir
Published 2012

A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease

by Butler, Joe M., Sharif, Umar, Ali, Manir, McKibbin, Martin, Thompson, Joseph P., Gale, Richard, Yang, Yit C., Inglehearn, Chris, Paraoan, Luminita
Published 2015

Analysis of Fcγ receptor haplotypes in rheumatoid arthritis: FCGR3A remains a major susceptibility gene at this locus, with an additional contribution from FCGR3B

by Morgan, Ann W, Barrett, Jennifer H, Griffiths, Bridget, Subramanian, Deepak, Robinson, Jim I, Keyte, Viki H, Ali, Manir, Jones, Elizabeth A, Old, Robert W, Ponchel, Frederique, Boylston, Arthur W, Situnayake, R Deva, Markham, Alexander F, Emery, Paul, Isaacs, John D
Published 2006

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1

by 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 2013

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

by Watson, Christopher M., El-Asrag, Mohammed, Parry, David A., Morgan, Joanne E., Logan, Clare V., Carr, Ian M., Sheridan, Eamonn, Charlton, Ruth, Johnson, Colin A., Taylor, Graham, Toomes, Carmel, McKibbin, Martin, Inglehearn, Chris F., Ali, Manir
Published 2014

Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

by Siddiqui, Salina, Zenteno, Juan Carlos, Rice, Aine, Chacón-Camacho, Oscar, Naylor, Steven G., Rivera-de la Parra, David, Spokes, David M., James, Nigel, Toomes, Carmel, Inglehearn, Chris F., Ali, Manir
Published 2013

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

by 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 2012

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

by Ravesh, Zeinab, El Asrag, Mohammed E., Weisschuh, Nicole, McKibbin, Martin, Reuter, Peggy, Watson, Christopher M., Baumann, Britta, Poulter, James A., Sajid, Sundus, Panagiotou, Evangelia S., O’Sullivan, James, Abdelhamed, Zakia, Bonin, Michael, Soltanifar, Mehdi, Black, Graeme C.M., Din, Muhammad Amin-ud, Toomes, Carmel, Ansar, Muhammad, Inglehearn, Chris F., Wissinger, Bernd, Ali, Manir
Published 2015