Proteomic profiling of the retinal dysplasia and degeneration chick retina

by Finnegan, Sorcha, Robson, Joanne, Hocking, Paul M., Ali, Manir, Inglehearn, Chris F., Stitt, Alan, Curry, William J.
Published 2010

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

by Poulter, James A, El-Sayed, Walid, Shore, Roger C, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
Published 2014

prp8 mutations that cause human Retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast

by Boon, Kum-Loong, Grainger, Richard J., Ehsani, Parastoo, Barrass, J. David, Auchynnikava, Tatsiana, Inglehearn, Chris F., Beggs, Jean D.
Published 2007

The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress

by Klaus, Kristel, Butler, Kevin, Durrant, Simon J., Ali, Manir, Inglehearn, Chris F., Hodgson, Timothy L., Gutierrez, Humberto, Pennington, Kyla
Published in Brain Behav (2017)

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

by Smith, Claire E. L., Poulter, James A., Antanaviciute, Agne, Kirkham, Jennifer, Brookes, Steven J., Inglehearn, Chris F., Mighell, Alan J.
Published in Front Physiol (2017)

The Influence of Lamellar Orientation on Corneal Material Behavior: Biomechanical and Structural Changes in an Avian Corneal Disorder

by Boote, Craig, Elsheikh, Ahmed, Kassem, Wael, Kamma-Lorger, Christina S., Hocking, Paul M., White, Nick, Inglehearn, Chris F., Ali, Manir, Meek, Keith M.
Published 2011

Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta

by Smith, Claire E.L., Murillo, Gina, Brookes, Steven J., Poulter, James A., Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in Hum Mol Genet (2016)

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

by Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.
Published in Sci Rep (2019)

Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa

by Ivings, Lenka, Towns, Katherine V., Matin, M.A., Taylor, Charles, Ponchel, Frederique, Grainger, Richard J., Ramesar, Rajkumar S., Mackey, David A., Inglehearn, Chris F.
Published 2008

Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea()

by Boote, Craig, Hayes, Sally, Young, Robert D., Kamma-Lorger, Christina S., Hocking, Paul M., Elsheikh, Ahmed, Inglehearn, Chris F., Ali, Manir, Meek, Keith M.
Published 2009

An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model

by Morgan, Siân R., Dooley, Erin P., Hocking, Paul M., Inglehearn, Chris F., Ali, Manir, Sorensen, Thomas L.-M., Meek, Keith M., Boote, Craig
Published 2013

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

by Ramprasad, Vedam Lakshmi, Soumittra, Nagasamy, Nancarrow, Derek, Sen, Parveen, McKibbin, Martin, Williams, Grange A, Arokiasamy, Tharigopala, Lakshmipathy, Praveena, Inglehearn, Chris F, Kumaramanickavel, Govindasamy
Published 2008

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration

by Ali, Manir, Ramprasad, Vedam Lakshmi, Soumittra, Nagasamy, Mohamed, Moin D., Jafri, Hussain, Rashid, Yasmin, Danciger, Michael, McKibbin, Martin, Kumaramanickavel, Govindasamy, Inglehearn, Chris F.
Published 2008

Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration

by Graziotto, John J., Farkas, Michael H., Bujakowska, Kinga, Deramaudt, Bertrand M., Zhang, Qi, Nandrot, Emeline F., Inglehearn, Chris F., Bhattacharya, Shomi S., Pierce, Eric A.
Published 2011

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

by Poulter, James A., Brookes, Steven J., Shore, Roger C., Smith, Claire E. L., Abi Farraj, Layal, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published 2014

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

by Poulter, James A., Murillo, Gina, Brookes, Steven J., Smith, Claire E. L., Parry, David A., Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published 2014

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

by Smith, Claire EL, Whitehouse, Laura LE, Poulter, James A, Brookes, Steven J, Day, Peter F, Soldani, Francesca, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
Published in Eur J Hum Genet (2017)

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

by Sullivan, Lori S., Heckenlively, John R., Bowne, Sara J., Zuo, Jian, Hide, Winston A., Gal, Andreas, Denton, Michael, Inglehearn, Chris F., Blanton, Susan H., Daiger, Stephen P.
Published 1999

Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families

by Inglehearn, Chris F., Lester, Douglas H., Bashir, Rumaisa, Atif, Uzma, Keen, T. Jeffrey, Sertedaki, Amalia, Lindsey, Janet, Jay, Marcelle, Bird, Alan C., Farrar, G. Jane, Humphries, Peter, Bhattacharya, Shomi S.
Published 1992

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

by El-Sayed, Walid, Parry, David A., Shore, Roger C., Ahmed, Mushtaq, Jafri, Hussain, Rashid, Yasmin, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published 2009