Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort

por Best, Sunayna, Inglehearn, Chris F., Watson, Christopher M., Toomes, Carmel, Wheway, Gabrielle, Johnson, Colin A.
Publicado 2022

Proteomic profiling of the retinal dysplasia and degeneration chick retina

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

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

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

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

por Klaus, Kristel, Butler, Kevin, Durrant, Simon J., Ali, Manir, Inglehearn, Chris F., Hodgson, Timothy L., Gutierrez, Humberto, Pennington, Kyla
Publicado 2017

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

por Smith, Claire E. L., Poulter, James A., Antanaviciute, Agne, Kirkham, Jennifer, Brookes, Steven J., Inglehearn, Chris F., Mighell, Alan J.
Publicado 2017

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

por Smith, Claire E.L., Murillo, Gina, Brookes, Steven J., Poulter, James A., Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Publicado 2016

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

por Abdelhamed, Zakia A., Abdelmottaleb, Dina I., El-Asrag, Mohammed E., Natarajan, Subaashini, Wheway, Gabrielle, Inglehearn, Chris F., Toomes, Carmel, Johnson, Colin A.
Publicado 2019

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

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

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

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

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

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

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

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

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

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

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

por 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.
Publicado 2014

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

por 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
Publicado 2017

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

por 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
Publicado 2022

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

por McClinton, Benjamin, Crinnion, Laura A., McKibbin, Martin, Mukherjee, Rajarshi, Poulter, James A., Smith, Claire E. L., Ali, Manir, Watson, Christopher M., Inglehearn, Chris F., Toomes, Carmel
Publicado 2023

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

por 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.
Publicado 2009

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress

por Brookes, Steven J., Barron, Martin J., Smith, Claire E.L., Poulter, James A., Mighell, Alan J., Inglehearn, Chris F., Brown, Catriona J., Rodd, Helen, Kirkham, Jennifer, Dixon, Michael J.
Publicado 2017

Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia

por Taylor, Rachel L., Soriano, Carla Sanjuro, Williams, Simon, Dzulova, Denisa, Ashworth, Jane, Hall, Georgina, Gale, Theodora, Lloyd, I. Christopher, Inglehearn, Chris F., Toomes, Carmel, Douzgou, Sofia, Black, Graeme C.
Publicado 2022

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells

por Yahya, Samar, Watson, Christopher M., Carr, Ian, McKibbin, Martin, Crinnion, Laura A., Taylor, Morag, Bonin, Hope, Fletcher, Tracy, El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F.
Publicado 2023