Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach
Musleh, M, Hall, G, Lloyd, I C, Gillespie, R L, Waller, S, Douzgou, S, Clayton-Smith, J, Kehdi, E, Black, G C M, Ashworth, J
Published in Eye (London) (01.09.2016)
Published in Eye (London) (01.09.2016)
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Journal Article
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing
Burgess, R, MacLaren, R E, Davidson, A E, Urquhart, J E, Holder, G E, Robson, A G, Moore, A T, Keefe, R O’, Black, G C M, Manson, F D C
Published in Journal of medical genetics (01.09.2009)
Published in Journal of medical genetics (01.09.2009)
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Journal Article
FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality
Fantes, J.A., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J.A., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D.R., Black, G.C.M.
Published in American journal of human genetics (01.04.2008)
Published in American journal of human genetics (01.04.2008)
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Journal Article
A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation
Perveen, R., Favor, J., Jamieson, R.V., Ray, D.W., Black, G.C.M.
Published in Human molecular genetics (01.05.2007)
Published in Human molecular genetics (01.05.2007)
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Journal Article
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa
Leroy, B P, Kailasanathan, A, De Laey, J-J, Black, G C M, Manson, F D C
Published in British journal of ophthalmology (01.01.2007)
Published in British journal of ophthalmology (01.01.2007)
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Journal Article
An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis
Jun, Albert S., Meng, Huan, Ramanan, Naren, Matthaei, Mario, Chakravarti, Shukti, Bonshek, Richard, Black, Graeme C.M., Grebe, Rhonda, Kimos, Martha
Published in Human molecular genetics (15.01.2012)
Published in Human molecular genetics (15.01.2012)
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Journal Article
Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms
Redwood, A., Douzgou, S., Waller, S., Ramsden, S., Roberts, A., Bonin, H., Lloyd, I.C., Ashworth, J., Black, G.C.M., Clayton-Smith, J.
Published in European journal of medical genetics (01.02.2020)
Published in European journal of medical genetics (01.02.2020)
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Journal Article
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling
Hanson, D, Murray, P G, Coulson, T, Sud, A, Omokanye, A, Stratta, E, Sakhinia, F, Bonshek, C, Wilson, L C, Wakeling, E, Temtamy, S A, Aglan, M, Rosser, E M, Mansour, S, Carcavilla, A, Nampoothiri, S, Khan, W I, Banerjee, I, Chandler, K E, Black, G C M, Clayton, P E
Published in Journal of molecular endocrinology (01.12.2012)
Published in Journal of molecular endocrinology (01.12.2012)
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Journal Article
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome
Chandler, K E, Kidd, A, Al-Gazali, L, Kolehmainen, J, Lehesjoki, A-E, Black, G C M, Clayton-Smith, J
Published in Journal of medical genetics (01.04.2003)
Published in Journal of medical genetics (01.04.2003)
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Journal Article
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
Clayton-Smith, J, Watson, P, Ramsden, S, Black, GCM
Published in The Lancet (British edition) (02.09.2000)
Published in The Lancet (British edition) (02.09.2000)
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Journal Article
Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation
Trebble, P, Matthews, L, Blaikley, J, Wayte, A. W. O, Black, G. C. M, Wilton, A, Ray, D. W
Published in Endocrine reviews (01.10.2010)
Published in Endocrine reviews (01.10.2010)
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Journal Article
Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation
Trebble, P, Matthews, L, Blaikley, J, Wayte, A. W. O, Black, G. C. M, Wilton, A, Ray, D. W
Published in Endocrinology (Philadelphia) (01.10.2010)
Published in Endocrinology (Philadelphia) (01.10.2010)
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Journal Article
3-M syndrome: a growth disorder associated with IGF2 silencing
Murray, P G, Hanson, D, Coulson, T, Stevens, A, Whatmore, A, Poole, R L, Mackay, D J, Black, G C M, Clayton, P E
Published in Endocrine Connections (01.12.2013)
Published in Endocrine Connections (01.12.2013)
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Journal Article
A mutation in the RIEG1 gene associated with Peters’ anomaly
Doward, W, Perveen, R, Lloyd, I C, Ridgway, A E A, Wilson, L, Black, G C M
Published in Journal of medical genetics (01.02.1999)
Published in Journal of medical genetics (01.02.1999)
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Journal Article
De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy
Hilton, E N, Black, G C M, Manson, F D C, Schorderet, D F, Munier, F L
Published in British journal of ophthalmology (01.08.2007)
Published in British journal of ophthalmology (01.08.2007)
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Journal Article
A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding
Lyon, Mary F., Jamieson, Robyn V., Perveen, Rahat, Glenister, Peter H., Griffiths, Robert, Boyd, Yvonne, Glimcher, Laurie H., Favor, Jack, Munier, Francis L., Black, Graeme C. M.
Published in Human molecular genetics (15.03.2003)
Published in Human molecular genetics (15.03.2003)
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