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Professor Graeme Black - publications

List of publications


  • Sergouniotis, P. I., Barton, S. J., Waller, S., Perveen, R., Ellingford, J. M., Campbell, C., ... Lovell, S. C. (2016). The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity. Orphanet Journal of Rare Diseases, 11(1), [125]. DOI: 10.1186/s13023-016-0505-0. Publication link: 0e9d6260-3640-4bb8-ba9d-5c5d3c1645b4
  • Eden, M., Payne, K., Jones, C., Wright, S., Hall, G., Mcallister, M., & Black, G. (2016). Identifying variation in models of care for the genomic-based diagnosis of inherited retinal dystrophies in the United Kingdom. Eye. DOI: 10.1038/eye.2016.74. Publication link: 90a09d99-a2cb-468a-8a65-920c89026ecc
  • Sergouniotis, P., Ellingford, J., O'Sullivan, J., Fenerty, C., & Black, G. (2016). Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma. Acta ophthalmologica. DOI: 10.1111/aos.13246. Publication link: e7e3610f-f459-4ef7-95b2-e0176d208979 | PubMed:27678338
  • Ellingford, J., Barton, S., Bhaskar, S., O'Sullivan, J., Williams, S., Lamb, J., ... Black, G. (2016). Molecular findings from 537 individuals with inherited retinal disease. Journal of Medical Genetics, 53(11), 761-767. DOI: 10.1136/jmedgenet-2016-103837. Publication link: d9b48b4c-9a48-4d27-9ac4-f3afe4ce4930
  • Ellingford, J., Barton, S., Bhaskar, S., Williams, S., Sergouniotis, P., O'Sullivan, J., ... Black, G. (2016). Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Ophthalmology, 1143–1150. DOI: 10.1016/j.ophtha.2016.01.009. Publication link: df32d75f-2cb0-40c3-a2d0-5c7441e99dff | PubMed:26872967


  • Harrison, M., Birch, S., Eden, M., Ramsden, S., Farragher, T., Payne, K., ... Black, G. C. (2015). Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.Journal of community genetics, 6(2). DOI: 10.1007/s12687-014-0210-4. Publication link: 4ff62847-271b-4dc4-b3b0-fb3439ddc2ea | PubMed:25567483
  • Porter, L. F., Gallego-Pinazo, R., Keeling, C. L., Kamieniorz, M., Zoppi, N., Colombi, M., ... Black, G. C. (2015). Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.Orphanet Journal of Rare Diseases, 10. DOI: 10.1186/s13023-015-0360-4. Publication link: 3a46d629-df1b-4493-aa9c-19664e7154ff | PubMed:26560304
  • Conte, I., Hadfield, K. D., Barbato, S., Carrella, S., Pizzo, M., Bhat, R. S., ... Black, G. C. M. (2015). MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.Proceedings of the National Academy of Sciences of the United States of America, 112(25). DOI: 10.1073/pnas.1401464112. Publication link: 36d8092a-5b13-4e22-9bde-6d9c69e50b7b | PubMed:26056285
  • Porter, L. F., Galli, G. G., Williamson, S., Selley, J., Knight, D., Elcioglu, N., ... Manson, F. D. (2015). A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.Human molecular genetics, 24(23). DOI: 10.1093/hmg/ddv345. Publication link: 2f6ad7ad-8890-4b7f-bc69-a5544653ba49 | PubMed:26395458
  • Greenlees, R., Mihelec, M., Yousoof, S., Speidel, D., Wu, S. K., Rinkwitz, S., ... Jamieson, R. V. (2015). Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.Human molecular genetics, 24(20). DOI: 10.1093/hmg/ddv298. Publication link: 26010e72-7dc9-49ac-a0e4-bb35d61f2de9 | PubMed:26231217
  • Gillespie, R. L., Urquhart, J., Lovell, S. C., Biswas, S., Parry, N. R. A., Schorderet, D. F., ... Black, G. C. (2015). Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.Investigative ophthalmology & visual science, 56(2). DOI: 10.1167/iovs.14-15861. Publication link: 18571611-109f-4a24-b445-c622e1ca04f8 | PubMed:25574057
  • Ravesh, Z., El Asrag, M. E., Weisschuh, N., McKibbin, M., Reuter, P., Watson, C. M., ... Ali, M. (2015). Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.Molecular vision, 21, 236-243. . Publication link: 1404f175-4c21-49f2-a175-27d70c8199a7 | PubMed:25802487
  • Sergouniotis, P., Urquhart, J., Williams, S., Bhaskar, S. S., Black, G., Lovell, S., ... Clayton-Smith, J. (2015). Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.Journal of Human Genetics, 60(4). DOI: 10.1038/jhg.2014.122. Publication link: 0215176e-02be-4b6d-83f0-3f1cddcbf1ae | PubMed:25589041
  • Gillespie, R., Urquhart, J., Anderson, B., Williams, S., Waller, S., Ashworth, J., ... Black, G. (2015). Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.Ophthalmology, 123(1), 217–220. DOI: 10.1016/j.ophtha.2015.06.035. Publication link: 811d4f06-1b15-4421-bbd2-553344b7b457 | PubMed:26233629
  • Ellingford, J., Sergouniotis, P., Lennon, R., Bhaskar, S., Williams, S., Hillman, K. A., ... Black, G. (2015). Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.The Lancet, 385(9980), 1916 . DOI: 10.1016/S0140-6736(15)60496-2. Publication link: a27773de-7d89-4def-b822-c1937503cc8e | PubMed:25987160
  • Ellingford, J. M., Black, G. C. M., Judge, M., Clayton, T. H., Griffiths, C. E. M., & Warren, R. B. (2015). A novel mutation in IL36RN underpins childhood pustular dermatosis.Journal of the European Academy of Dermatology and Venereology : JEADV. DOI: 10.1111/jdv.13034. Publication link: 98a6ad05-6bb1-4566-af09-97edb75ccdea | PubMed:25688670
  • Clarke, E., Combs, R., Black, G., & Hall, G. (2015). Patient expectations and attitudes towards specialist genetic eye services.Journal of genetic counseling, 24(2). DOI: 10.1007/s10897-014-9775-7. Publication link: 78dab92d-4ad5-4a3a-add3-e76cbf3d5b68 | PubMed:25273951
  • El-Asrag, M. E., Sergouniotis, P. I., McKibbin, M., Plagnol, V., Sheridan, E., Waseem, N., ... Lord, E. (2015). Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.American Journal of Human Genetics, 96(6). DOI: 10.1016/j.ajhg.2015.04.006. Publication link: e2adc0ef-bd2f-4be4-878d-513b3848a5e3 | PubMed:25983245
  • Ratbi, I., Falkenberg, K. D., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., ... Van Camp, G. (2015). Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.American Journal of Human Genetics, 97(4), 535-545. DOI: 10.1016/j.ajhg.2015.08.011. Publication link: d41dc05d-203f-4819-81f7-35599333ba57 | PubMed:26387595
  • Rose, A. M., Sergouniotis, P., Alfano, G., Muspratt-Tucker, N., Barton, S., Moore, A. T., ... Webster, A. R. (2015). Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.Eye (London, England), 29(9). DOI: 10.1038/eye.2015.93. Publication link: cec81cde-c2f8-4618-9ae3-4846904c115b | PubMed:26113502



  • Ramsden, S. C., O'Grady, A., Fletcher, T., O'Sullivan, J., Hart-Holden, N., Barton, S. J., ... Black, G. C. (2013). A clinical molecular genetic service for United Kingdom families withchoroideraemia. European Journal of Medical Genetics, 56(8), 432-438. DOI: 10.1016/j.ejmg.2013.06.003. Publication link: 49b452f8-1204-49c5-993a-6143b9c80c64 | PubMed:23811034
  • Carr, I. M., Bhaskar, S., O' Sullivan, J., Aldahmesh, M. A., Shamseldin, H. E., Markham, A. F., ... O'Sullivan, J. (2013). Autozygosity Mapping with Exome Sequence Data. Human Mutation, 34(1), 50-56. DOI: 10.1002/humu.22220. Publication link: 3cea46f8-5088-428a-beac-f55d524f094a | PubMed:23090942
  • Combs, R., McAllister, M., Payne, K., Lowndes, J., Devery, S., Webster, A. R., ... Hall, G. (2013). Understanding the impact of genetic testing for inherited retinal dystrophy. European Journal of Human Genetics, 21(11), 1209-1213. DOI: 10.1038/ejhg.2013.19. Publication link: 39e830d3-b04f-4583-b2ee-1be3922f8754
  • Carr, I. M., Morgan, J., Watson, C., Melnik, S., Diggle, C. P., Logan, C. V., ... Bonthron, D. T. (2013). Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data. Human Mutation, 34(7), 945-952. DOI: 10.1002/humu.22322. Publication link: 1b40d4ac-6244-41b3-88c6-438aa2751d30 | PubMed:23554237
  • Murray, P. G., Hanson, D., Coulson, T., Stevens, A., Whatmore, A., Poole, R. L., ... Clayton, P. E. (2013). 3-M syndrome: a growth disorder associated with IGF2 silencing.Endocrine Connections, 2(4). DOI: 10.1530/EC-13-0065. Publication link: 0da0e1b1-34f2-4195-9727-848841659ef6 | PubMed:24148222
  • Burkitt Wright, E. M. M., Porter, L. F., Spencer, H. L., Clayton-Smith, J., Au, L., Munier, F. L., ... Black, G. C. M. (2013). Brittle cornea syndrome: Recognition, molecular diagnosis and management. Orphanet Journal of Rare Diseases, 8(1), [68]. DOI: 10.1186/1750-1172-8-68. Publication link: 7f0759b6-27fa-4625-87d6-d087cb8ab81e | PubMed:23642083
  • Combs, R., Hall, G., Payne, K., Lowndes, J., Devery, S., Downes, S. M., ... McAllister, M. (2013). Understanding the expectations of patients with inherited retinal dystrophies. British Journal of Ophthalmology, 97(8), 1057-1061. DOI: 10.1136/bjophthalmol-2012-302911. Publication link: bb109afa-e44a-4c74-98a0-baec42973c7d | PubMed:23740962
  • Eden, M., Payne, K., Combs, R. M., Hall, G., McAllister, M., & Black, G. C. M. (2013). Valuing the benefits of genetic testing for retinitis pigmentosa: A pilot application of the contingent valuation method. British Journal of Ophthalmology, 97(8), 1051-1056. DOI: 10.1136/bjophthalmol-2012-303020. Publication link: c7a9e8e5-f70a-4464-a25a-01b043e48120 | PubMed:23743435
  • Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., ... Newman, W. G. (2013). Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. American Journal of Human Genetics, 92(4), 605-613. DOI: 10.1016/j.ajhg.2013.02.013. Publication link: ee3718e3-9d25-4e36-8fd6-0fe8cc104895 | PubMed:23541340
  • Belot, A., Kasher, P. R., Trotter, E. W., Foray, A-P., Debaud, A-L., Rice, G. I., ... Bonnefoy, N. (2013). Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.Arthritis and rheumatism, 65(8), 2161-2171. DOI: 10.1002/art.38008. Publication link: de42a443-c8cf-4dca-ba0a-5c6d79007aa4 | PubMed:23666743


  • Mitchell, K., O'Sullivan, J., Missero, C., Blair, E., Richardson, R., Anderson, B., ... Dixon, M. J. (2012). Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. American Journal of Human Genetics, 90(1), 69-75. DOI: 10.1016/j.ajhg.2011.11.013. Publication link: c6dfb59f-cab1-49ab-847c-1eca7044146f | PubMed:22197488
  • Dev Borman, A., Ocaka, L. A., Mackay, D. S., Ripamonti, C., Henderson, R. H., Moradi, P., ... Moore, A. T. (2012). Early onset retinal dystrophy due to mutations in LRAT: Molecular analysis and detailed phenotypic study. Investigative Ophthalmology and Visual Science, 53(7), 3927-3938. DOI: 10.1167/iovs.12-9548. Publication link: e8c7756e-30e2-4639-a0af-f372222e6153
  • Banka, S., Veeramachaneni, R., Reardon, W., Howard, E., Bunstone, S., Ragge, N., ... Donnai, D. (2012). How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics, 20(4), 381-388. DOI: 10.1038/ejhg.2011.220. Publication link: f19345c0-4f82-4a7a-9357-a77a9d2e7db8 | PubMed:22126750
  • Anderson, B., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., ... Lourenço, C. M. (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics, 44(3), 338-342. DOI: 10.1038/ng.1084. Publication link: 5e16d5b5-1fcc-4e1a-b396-4892f7d787a1 | PubMed:22267198
  • Ramsden, S. C., Davidson, A. E., Leroy, B. P., Moore, A. T., Webster, A. R., Black, G. C. M., & Manson, F. D. C. (2012). Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). European Journal of Human Genetics, 20(5), 592. DOI: 10.1038/ejhg.2011.251. Publication link: 61bc9f6d-709e-4a9e-9b79-ea5498ae4787 | PubMed:22234150
  • Jun, A. S., Meng, H., Ramanan, N., Matthaei, M., Chakravarti, S., Bonshek, R., ... Kimos, M. (2012). An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. Human Molecular Genetics, 21(2), 384-393. [ddr473]. DOI: 10.1093/hmg/ddr473. Publication link: 568ebc0c-75b8-4d73-b9eb-e29484bb24ea | PubMed:22002996
  • Clayton, P. E., Hanson, D., Magee, L., Murray, P. G., Saunders, E., Abu-Amero, S. N., ... Black, G. C. M. (2012). Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clinical Endocrinology, 77(3), 335-342. DOI: 10.1111/j.1365-2265.2012.04428.x. Publication link: 6a3b5baf-b5e7-44ec-9f07-79f372aa720d | PubMed:22624670
  • Edwards, T. L., Burt, B. O., Black, G. C., Perveen, R., Kearns, L. S., Staffieri, S. E., ... Mackey, D. A. (2012). Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. Clinical and Experimental Ophthalmology. DOI: 10.1111/j.1442-9071.2012.02804.x. Publication link: 6b0e56c4-25d8-4157-955f-dc2f3525c158
  • Hanson, D., Murray, P. G., Coulson, T., Sud, A., Omokanye, A., Stratta, E., ... Clayton, P. E. (2012). Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.Journal of molecular endocrinology, 49(3), 267-275. DOI: 10.1530/JME-12-0034. Publication link: 6982ff5b-4557-4218-a727-7a53a4be9ac8 | PubMed:23018678
  • O'Sullivan, J., Mullaney, B. G., Bhaskar, S. S., Dickerson, J. E., Hall, G., O'Grady, A., ... Black, G. C. (2012). A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. Journal of Medical Genetics, 49(5), 322-326. DOI: 10.1136/jmedgenet-2012-100847. Publication link: 8b37e5fa-0408-4815-b476-6b3b448f56dc | PubMed:22581970
  • Maher, G. J., Black, G. C., & Manson, F. D. (2012). Focus on Molecules: Lens intrinsic membrane protein (LIM2/MP20). Exp Eye Research, 103, 115-116. DOI: 10.1016/j.exer.2011.08.006. Publication link: 05df66a5-30f0-4097-9948-239491b90d09 | PubMed:21867698
  • Davies, W. I. L., Downes, S. M., Fu, J. K., Shanks, M. E., Copley, R. R., Lise, S., ... Németh, A. H. (2012). Next-generation sequencing in health-care delivery: Lessons from the functional analysis of rhodopsin. Genetics in Medicine, 14(11), 891-899. DOI: 10.1038/gim.2012.73. Publication link: 1c818bf6-2f89-466b-bfba-7ad5ba568098


  • Bella, H., Heise, M., Yagi, K. I., Black, G., McGrouther, D. A., & Bayat, A. (2011). A clinical characterization of familial keloid disease in unique African tribes reveals distinct keloid phenotypes. Plastic and Reconstructive Surgery, 127(2), 689-702. DOI: 10.1097/PRS.0b013e3181fed645. Publication link: 21357d85-a40d-427f-b878-f4094d301604 | PubMed:21285773
  • Maher, G. J., Hilton, E. N., Urquhart, J. E., Davidson, A. E., Spencer, H. L., Black, G. C., & Manson, F. D. (2011). The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members. FEBS Letters, 585(14), 2187-2192. DOI: 10.1016/j.febslet.2011.05.060. Publication link: 0097ff42-c8c9-43dc-865d-064239255613 | PubMed:21689651
  • Dev Borman, A., Davidson, A. E., O'Sullivan, J., Thompson, D. A., Robson, A. G., De Baere, E., ... Moore, A. T. (2011). Childhood-onset autosomal recessive bestrophinopathy. Archives of Ophthalmology, 129(8), 1088-1093. DOI: 10.1001/archophthalmol.2011.197. Publication link: 3f2aea2a-1f6d-4d16-82ca-5b0eb4c9cb17 | PubMed:21825197
  • Hanson, D., Murray, P. G., Black, G. C. M., & Clayton, P. E. (2011). The genetics of 3-M syndrome: Unravelling a potential new regulatory growth pathway. Hormone Research in Paediatrics, 76(6), 369-378. DOI: 10.1159/000334392. Publication link: 7e1ad46e-1601-4e92-a5d6-bae6d50e9f6b | PubMed:22156540
  • Hannibal, M. C., Buckingham, K. J., Ng, S. B., Ming, J. E., Beck, A. E., Mcmillin, M. J., ... Bamshad, M. J. (2011). Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. American Journal of Medical Genetics, Part A, 155(7), 1511-1516. DOI: 10.1002/ajmg.a.34074. Publication link: 9d7d59da-ba7a-4842-b6dc-41075725c906 | PubMed:21671394
  • Hanson, D., Murray, P. G., O'Sullivan, J., Urquhart, J., Daly, S., Bhaskar, S. S., ... Black, G. C. M. (2011). Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. American Journal of Human Genetics, 89(1), 148-153. DOI: 10.1016/j.ajhg.2011.05.028. Publication link: 9a94bfe2-5da8-4b7c-af35-2fe7571a92b1 | PubMed:21737058
  • Kousal, B., Chakarova, F., Black, G. C., Ramsden, S., Langrovǎ, H., & Liškovǎ, P. (2011). Minimǎlnǐ nǎlez u pacienta s Bestovou chorobou podmí;něnou mutací; c.653G>A v genu BEST1. Ceska a Slovenska Oftalmologie, 67(5-6), 170-174. . Publication link: 9896a17a-3758-4443-9b54-532b5423747b
  • Briggs, T. A., Rice, G. I., Daly, S., Urquhart, J., Gornall, H., Bader-Meunier, B., ... Crow, Y. J. (2011). Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type i interferon expression signature. Nature Genetics, 43(2), 127-131. DOI: 10.1038/ng.748. Publication link: 93c821e2-b84e-42c0-bba8-8dfeeac26f6e | PubMed:21217755
  • Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., ... Black, G. (2011). Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the say-barber-biesecker variant of Ohdo syndrome. American Journal of Human Genetics, 89(5), 675-681. DOI: 10.1016/j.ajhg.2011.10.008. Publication link: 75c9d6d1-a1c8-479d-a784-3350044f676f | PubMed:22077973
  • O'Sullivan, J., Bitu, C. C., Daly, S. B., Urquhart, J., Barron, M. J., Bhaskar, S. S., ... Dixon, M. J. (2011). Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. American Journal of Human Genetics, 88(5), 616-620. DOI: 10.1016/j.ajhg.2011.04.005. Publication link: 7698048f-5e7b-4152-8568-37f61e25ee1e | PubMed:21549343
  • Davidson, A. E., Millar, I. D., Burgess-Mullan, R., Maher, G. J., Urquhart, J. E., Brown, P. D., ... Manson, F. D. C. (2011). Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. Investigative Ophthalmology and Visual Science, 52(6), 3730-3736. DOI: 10.1167/iovs.10-6707. Publication link: 6e67f9db-ea49-4f61-b39d-e2600aececb4 | PubMed:21330666
  • Osbun, N., Li, J., O'Driscoll, M. C., Strominger, Z., Wakahiro, M., Rider, E., ... Sherr, E. H. (2011). Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. American Journal of Medical Genetics, Part A, 155(8), 1865-1876. DOI: 10.1002/ajmg.a.34081. Publication link: 5dc62559-7f06-4bbe-8e49-2e4458e48e97 | PubMed:21739582
  • Low, S., Davidson, A. E., Holder, G. E., Hogg, C. R., Bhattacharya, S. S., Black, G. C., ... Webster, A. R. (2011). Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: A clinical and molecular genetic study. Molecular vision, 17, 2272-2282. . Publication link: ce580109-1db8-4c90-806a-4b2dbd939b33 | PubMed:21921978
  • Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., ... Black, G. C. M. (2011). Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. American Journal of Human Genetics, 88(6), 767-777. DOI: 10.1016/j.ajhg.2011.05.007. Publication link: d61843ac-62a6-46c4-a0de-7bb4a75d6a9d | PubMed:21664999
  • Porter, L. F., Urquhart, J. E., O'Donoghue, E., Spencer, A. F., Wade, E. M., Manson, F. D. C., & Black, G. C. M. (2011). Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2.Investigative ophthalmology & visual science, 52(11), 7859-7865. DOI: 10.1167/iovs.10-6581. Publication link: fc3a1211-21e2-4b2f-b717-54cad29a3b3b | PubMed:21896847


  • Davidson, A. E., Sergouniotis, P. I., Burgess-Mullan, R., Hart-Holden, N., Low, S., Foster, P. J., ... Webster, A. R. (2010). A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. Molecular vision, 16, 2916-2922. . Publication link: e6a7cbe4-4d15-40ee-8adc-3250f7dc56f9 | PubMed:21203346
  • Banka, S., Lloyd, I. C., Black, G., Trueman, S., Gibbs, J., & Clayton-Smith, J. (2010). De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability. Clinical Dysmorphology, 19(2), 73-75. DOI: 10.1097/MCD.0b013e328331a6d7. Publication link: f462f182-250c-46bc-9636-59232ea2f626 | PubMed:20177379
  • Latif, A., Hadfield, K. D., Roberts, S. A., Shenton, A., Lalloo, F., Black, G. C. M., ... Newman, W. G. (2010). Breast cancer susceptibility variants alter risks in familial disease. Journal of Medical Genetics, 47(2), 126-131. DOI: 10.1136/jmg.2009.067256. Publication link: f7093ba0-7411-41ca-a5c2-f83bca373c26 | PubMed:19617217
  • Trebble, P., Matthews, L., Blaikley, J., Wayte, A. W. O., Black, G. C. M., Wilton, A., & Ray, D. W. (2010). Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation. Journal of Clinical Endocrinology and Metabolism, 95(12), E490-E499. DOI: 10.1210/jc.2010-0705. Publication link: c4736e0e-4ba8-4cde-9ed7-e01a5ef1a4e4 | PubMed:20861124
  • Daly, S., Urquhart, J. E., Hilton, E., McKenzie, E. A., Kammerer, R., Lewis, M., ... Newman, W. G. (2010). Mutations in HPSE2 Cause Urofacial Syndrome. American Journal of Human Genetics, 86(6), 963-969. DOI: 10.1016/j.ajhg.2010.05.006. Publication link: c049bfec-7bfa-427c-8360-1171aed9e5fc | PubMed:20560210
  • Whibley, A., Urquhart, J., Dore, J., Willatt, L., Parkin, G., Gaunt, L., ... Raymond, F. L. (2010). Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. European Journal of Human Genetics, 18(10), 1095-1099. DOI: 10.1038/ejhg.2010.41. Publication link: 0a2c56a6-4d20-4925-ac51-eebb0c19f2be | PubMed:20485326
  • Towns, K. V., Kipioti, A., Long, V., McKibbin, M., Maubaret, C., Vaclavik, V., ... Inglehearn, C. F. (2010). Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Human Mutation, 31(5), E1361-E1376. DOI: 10.1002/humu.21236. Publication link: 4b05449a-1d3c-4bb5-9911-349b2cfd34df | PubMed:20232351
  • O'Driscoll, M. C., Black, G. C. M., Clayton-Smith, J., Sherr, E. H., & Dobyns, W. B. (2010). Identification of genomic loci contributing to agenesis of the corpus callosum. American Journal of Medical Genetics, Part A, 152(9), 2145-2159. DOI: 10.1002/ajmg.a.33558. Publication link: 7776b74a-606a-4c28-b829-fccc38f3a562
  • Burkitt Wright, E. M. M., Perveen, R., Bowers, N., Ramsden, S., McCann, E., O'Driscoll, M., ... Black, G. C. M. (2010). VSX2 in microphthalmia: A novel splice site mutation producing a severe microphthalmia phenotype. British Journal of Ophthalmology, 94(3), 386-388. DOI: 10.1136/bjo.2009.159996. Publication link: 64f6d999-7673-4d2c-8eff-b050c20ba935
  • O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., ... Crow, Y. J. (2010). Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. American Journal of Human Genetics, 87(3), 354-364. DOI: 10.1016/j.ajhg.2010.07.012. Publication link: 98a26286-c0ae-4452-935f-9b279f01f753 | PubMed:20727516
  • Nishimura, D. Y., Baye, L. M., Perveen, R., Searby, C. C., Avila-Fernandez, A., Pereiro, I., ... Sheffield, V. C. (2010). Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71. American Journal of Human Genetics, 86(5), 686-695. DOI: 10.1016/j.ajhg.2010.03.005. Publication link: 9119835b-125e-413d-a1c4-d8f9e990f0ec | PubMed:20398886


  • Davidson, A. E., Millar, I. D., Urquhart, J. E., Burgess-Mullan, R., Shweikh, Y., Parry, N., ... Manson, F. D. C. (2009). Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa. American Journal of Human Genetics, 85(5), 581-592. DOI: 10.1016/j.ajhg.2009.09.015. Publication link: c114a752-babf-47f1-900d-c76a7b335836 | PubMed:19853238
  • Giorda, R., Bonaglia, M. C., Beri, S., Fichera, M., Novara, F., Magini, P., ... Zuffardi, O. (2009). Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females. American Journal of Human Genetics, 85(3), 394-400. DOI: 10.1016/j.ajhg.2009.08.001. Publication link: e7e470a6-45d8-4096-ba94-a3938fcbdb44 | PubMed:19716111
  • Urquhart, J., Black, G. C. M., & Clayton-Smith, J. (2009). 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. European Journal of Medical Genetics, 52(6), 454-457. DOI: 10.1016/j.ejmg.2009.06.003. Publication link: 8d10ab17-38f7-494e-9b3d-e5fb061894e8 | PubMed:19576302
  • Kalyanasundaram, T. S., Black, G. C., O'Sullivan, J., & Bishop, P. N. (2009). A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation. Eye, 23(1), 237-239. DOI: 10.1038/eye.2008.33. Publication link: 4b93680c-a4e1-4b9f-8fd0-07ce1bad7a48
  • Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., ... Black, G. (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17(10), 1325-1335. DOI: 10.1038/ejhg.2009.52. Publication link: 377ae13c-17c2-4768-bd30-0b44fb2dd71e | PubMed:19367324
  • Burkitt Wright, E. M. M., Perveen, R., Clayton, P. E., Hall, C. M., Costa, T., Procter, A. M., ... Black, G. C. (2009). X-linked isolated growth hormone deficiency: Expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. Clinical Dysmorphology, 18(4), 218-221. DOI: 10.1097/MCD.0b013e32832d06f0. Publication link: 32125586-4395-477b-82fc-bf33fdefa720 | PubMed:19654509
  • Burgess, R., MacLaren, R. E., Davidson, A. E., Urquhart, J. E., Holder, G. E., Robson, A. G., ... Manson, F. D. C. (2009). ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. Journal of Medical Genetics, 46(9), 620-625. DOI: 10.1136/jmg.2008.059881. Publication link: 31ce1cb7-f7b8-4d24-81c0-1f402cf68d5d | PubMed:18611979
  • Hanson, D., Murray, P. G., Sud, A., Temtamy, S. A., Aglan, M., Superti-Furga, A., ... Clayton, P. E. (2009). The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1. American Journal of Human Genetics, 84(6), 801-806. DOI: 10.1016/j.ajhg.2009.04.021. Publication link: 27281cf2-ae81-4a64-a24e-7ab9c3bc35da | PubMed:19481195


  • McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E., ... Männikkö, M. (2008). Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Human Mutation, 29(1), 83-90. DOI: 10.1002/humu.20603. Publication link: c833d0c3-c225-4672-a5ad-245b95155152 | PubMed:17721977
  • Banerjee, I., Hanson, D., Perveen, R., Whatmore, A., Black, G. C., & Clayton, P. E. (2008). Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene. European Journal of Endocrinology, 158(4), 473-477. DOI: 10.1530/EJE-07-0769. Publication link: c34b772e-3858-496b-a52c-871871028d5d
  • Burgess, R., Millar, I. D., Leroy, B. P., Urquhart, J. E., Fearon, I. M., De Baere, E., ... Black, G. C. M. (2008). Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans. American Journal of Human Genetics, 82(1), 19-31. DOI: 10.1016/j.ajhg.2007.08.004. Publication link: 7e8f11c7-05b7-40ea-a8d9-6fd1b4cb832f | PubMed:18179881
  • Sivaprasad, S., Kung, B. T., Robson, A. G., Black, G., Webster, A. R., Bird, A., & Egan, C. (2008). A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation [2]. Clinical and Experimental Ophthalmology, 36(1), 92-93. DOI: 10.1111/j.1442-9071.2007.01656.x. Publication link: 9782c159-33c6-4978-9d90-6e8b844ce095
  • Newman, W. G., Clayton-Smith, J., Metcalfe, K., Cole, R., Tartaglia, M., Brancati, F., ... Black, G. C. M. (2008). Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. American Journal of Medical Genetics, Part A, 146(23), 3034-3037. DOI: 10.1002/ajmg.a.32564. Publication link: 0ded6df3-0693-49ea-92ff-cedeebe90fbb | PubMed:19006212
  • Fantes, J. A., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J. A., ... Black, G. C. M. (2008). FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality. American Journal of Human Genetics, 82(4), 916-926. DOI: 10.1016/j.ajhg.2008.02.007. Publication link: 197ea42f-65a4-4aba-b674-7c1a810cadd4 | PubMed:18374296
  • Lo, I. F. M., Brewer, C., Shannon, N., Shorto, J., Tang, B., Black, G., ... Kerr, B. (2008). Severe neonatal manifestations of Costello syndrome. Journal of Medical Genetics, 45(3), 167-171. DOI: 10.1136/jmg.2007.054411. Publication link: 1ab39f9e-6d42-4ace-9df3-b2fe4f4575a6


  • Tang, B., Reardon, W., Black, G. C., & Kerr, B. A. (2007). Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. Clinical Dysmorphology, 16(3), 203-206. DOI: 10.1097/MCD.0b013e328011f974. Publication link: 1366f0f4-2ec2-4d4a-bfed-d96f48614f50
  • Joy, T., Cao, H., Black, G., Malik, R., Charlton-Menys, V., Hegele, R. A., & Durrington, P. N. (2007). Alstrom syndrome (OMIM 203800): A case report and literature review. Orphanet Journal of Rare Diseases, 2(1), [49]. DOI: 10.1186/1750-1172-2-49. Publication link: 4c634737-7412-4131-a237-119b054da9e2
  • Jamieson, R. V., Farrar, N., Stewart, K., Perveen, R., Mihelec, M., Carette, M., ... Black, G. C. M. (2007). Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. Human Mutation, 28(10), 968-977. DOI: 10.1002/humu.20545. Publication link: 3c813918-9902-40a5-8538-87661c932a93
  • Perveen, R., Favor, J., Jamieson, R. V., Ray, D. W., & Black, G. C. M. (2007). A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation. Human Molecular Genetics, 16(9), 1030-1038. DOI: 10.1093/hmg/ddm048. Publication link: 857f1519-e17a-4d65-839e-fa27dc60f248
  • Shu, X., Black, G. C., Rice, J. M., Hart-Holden, N., Jones, A., O'Grady, A., ... Wright, A. F. (2007). RPGR mutation analysis and disease: An update. Human Mutation, 28(4), 322-328. DOI: 10.1002/humu.20461. Publication link: a98b1d12-2e17-4d5c-9d2c-4860025cb0e9
  • Kantarci, S., Al-Gazali, L., Hill, R. S., Donnai, D., Black, G. C. M., Bieth, E., ... Pober, B. R. (2007). Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nature Genetics, 39(8), 957-959. DOI: 10.1038/ng2063. Publication link: 69c73ab0-c808-45bd-96a8-1be09515bb93
  • Leroy, B. P., Kailasanathan, A., De Laey, J. J., Black, G. C. M., & Manson, F. D. C. (2007). Intrafamilial phenotypic variability in families with RDS mutations: Exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa. British Journal of Ophthalmology, 91(1), 89-93. DOI: 10.1136/bjo.2006.101915. Publication link: 58de8b36-896c-4b3b-abf8-037abf8cd35d | PubMed:16916875
  • Manson, F., Hilton, E. N., Manson, F. D. C., Urquhart, J. E., Johnston, J. J., Slavotinek, A. M., ... Black, G. C. M. (2007). Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. Human Molecular Genetics, 16(14), 1773-1782. DOI: 10.1093/hmg/ddm125. Publication link: bd50cc22-a1a2-4483-9d19-0b043f099c67 | PubMed:17517692
  • McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E., ... Männikkö, M. (2007). Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.Hum Mutat. . Publication link: e65c1672-96f0-4854-9947-a3d415a10c63


  • Boutboul, S., Black, G. C. M., Moore, J. E., Sinton, J., Menasche, M., Munier, F. L., ... Schorderet, D. F. (2006). A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Human Mutation, 27(6), 553-557. DOI: 10.1002/humu.20331. Publication link: bbab42d9-b60a-48e8-8a76-d39cc76e5ff8
  • Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., De Brouwer, A. P. M., Van Nouhuys, C. E., Boon, C. J. F., ... Cremers, F. P. M. (2006). Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Investigative Ophthalmology and Visual Science, 47(8), 3565-3572. DOI: 10.1167/iovs.06-0141. Publication link: 66d7803d-9378-4afc-a359-7460ea551600
  • Michaelides, M., Urquhart, J., Holder, G. E., Restori, M., Kayali, N., Manson, F. D. C., & Black, G. C. M. (2006). Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. American Journal of Ophthalmology, 141(2), 418-420. DOI: 10.1016/j.ajo.2005.09.018. Publication link: 6abc4a00-c0cf-4148-9b96-8c0c84b8cf3d | PubMed:16458719
  • Chakarova, C. F., Cherninkova, S., Tournev, I., Waseem, N., Kaneva, R., Jordanava, A., ... Bhattacharya, S. S. (2006). Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Molecular vision, 12, 909-914. . Publication link: 7a4b2057-4b0d-4eed-9019-dcfe356a5a07
  • Manson, F., Khan, A., Chandler, K., Pimenides, D., Black, G. C. M., & Manson, F. D. C. (2006). Corneal ectasia associated with Cohen syndrome: A role for COH1 in corneal development and maintenance? [2]. British Journal of Ophthalmology, 90(3), 390-391. DOI: 10.1136/bjo.2005.080085. Publication link: 76c85cc6-0d3b-4d9a-8d3a-dbd2cded11f3
  • Urquhart, J. E., Biswas, S., Black, G. C. M., Munier, F., & Sutphin, J. (2006). Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy.Br J Ophthalmol, 90( 11). . Publication link: 19871107-697e-4d7e-ab26-95652437f8c6
  • Kerr, B., Delrue, M. A., Sigaudy, S., Perveen, R., Marche, M., Burgelin, I., ... Black, G. (2006). Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. Journal of Medical Genetics, 43(5), 401-405. DOI: 10.1136/jmg.2005.040352. Publication link: 448e88b3-9175-4a1e-a61c-978e2a377ee1


  • McCann, E., Kaye, S. B., Newman, W., Norbury, G., Black, G. C. M., & Ellis, I. H. (2005). Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. American Journal of Medical Genetics. Part A, 138(3), 278-281. DOI: 10.1002/ajmg.a.30944. Publication link: 1fbe246d-f072-4213-8fa2-4ce405c022db
  • Huber, C., Dias-Santagata, D., Glaser, A., O'Sullivan, J., Brauner, R., Wu, K., ... Cormier-Daire, V. (2005). Identification of mutations in CUL7 in 3-M syndrome. Nature Genetics, 37(10), 1119-1124. DOI: 10.1038/ng1628. Publication link: af9e4a2a-9079-413d-b0c1-6ccf2ca7c589
  • Johnston, J. J., Olivos-Glander, I., Killoran, C., Elson, E., Turner, J. T., Peters, K. F., ... Biesecker, L. G. (2005). Molecular and clinical analyses of Greig cephalopolysyndactyly and pallister-hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. American Journal of Human Genetics, 76(4), 609-622. DOI: 10.1086/429346. Publication link: d483b215-6064-4d86-9e15-226f45d59b2d


  • Toomes, C., Bottomley, H. M., Scott, S., Mackey, D. A., Craig, J. E., Appukuttan, B., ... Inglehearn, C. F. (2004). Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Investigative Ophthalmology and Visual Science, 45(7), 2083-2090. DOI: 10.1167/iovs.03-1044. Publication link: dc337423-fe5e-4851-acab-d6ec036adabc
  • Quinn, S. M., Black, G. C. M., Biswas, S., Clayton-Smith, J., & Lloyd, I. C. (2004). Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. Ophthalmic Genetics, 25(4), 277-283. DOI: 10.1080/13816810490902684. Publication link: b70235eb-fad4-4b29-b22c-8f1357f3e7f6
  • Manson, F., Yardley, J., Leroy, B. P., Hart-Holden, N., Lafaut, B. A., Loeys, B., ... Urquhart, J. (2004). Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Investigative Ophthalmology and Visual Science, 45(10), 3683-3689. DOI: 10.1167/iovs.04-0550. Publication link: aabeb3b3-757b-407b-a66d-a5248bd47b3e | PubMed:15452077
  • Kolehmainen, J., Wilkinson, R., Lehesjoki, A. E., Chandler, K., Kivitie-Kallio, S., Clayton-Smith, J., ... Manson, F. D. C. (2004). Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. American Journal of Human Genetics, 75(1), 122-127. DOI: 10.1086/422197. Publication link: fd116ef9-c6c0-432c-8a7f-aaea6df36e70 | PubMed:15141358
  • Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., ... Biesecker, L. G. (2004). Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nature Genetics, 36(4), 411-416. DOI: 10.1038/ng1321. Publication link: 5273c754-f0b3-4c0f-93ad-bdc0f76f5708 | PubMed:15004558
  • Toomes, C., Bottomley, H. M., Jackson, R. M., Towns, K. V., Scott, S., Mackey, D. A., ... Inglehearn, C. F. (2004). Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q. American Journal of Human Genetics, 74(4), 721-730. DOI: 10.1086/383202. Publication link: 6d2a257b-ce70-4a21-ab8c-64cf62f6b1c0


  • Lyon, M. F., Jamieson, R. V., Perveen, R., Glenister, P. H., Griffiths, R., Boyd, Y., ... Black, G. C. M. (2003). 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. Human Molecular Genetics, 12(6), 585-594. DOI: 10.1093/hmg/12.6.585. Publication link: eff6c87a-ce19-48f1-8c64-348616b957c5
  • Jamieson, R. V., Kerr, B., Donnai, D., & Black, G. C. M. (2003). Karyotype analysis is essential where ocular anomalies are associated with other malformations or intellectual handicap.Br J Opthalmol, 87. . Publication link: b80afb50-02d8-4241-a1c1-663ce9d6dc6b
  • Chandler, K. E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A. E., Black, G. C. M., & Clayton-Smith, J. (2003). Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. Journal of Medical Genetics, 40(4), 233-241. DOI: 10.1136/jmg.40.4.233. Publication link: 1389117b-f9f5-4813-88c0-4000a9e7fb94


  • Chandler, K. E., Biswas, S., Lloyd, I. C., Parry, N., Clayton-Smith, J., & Black, G. C. M. (2002). The ophthalmic findings in Cohen syndrome. British Journal of Ophthalmology, 86(12), 1395-1398. DOI: 10.1136/bjo.86.12.1395. Publication link: 971dd96d-1dc3-419a-ab6c-c0e4a27c8415
  • Irvine, A. D., Coleman, C. M., Smith, F. J. D., McLean, W. H. I., Moore, J. E., Swensson, O., ... Black, G. C. M. (2002). A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. British Journal of Ophthalmology, 86(7), 729-732. DOI: 10.1136/bjo.86.7.729. Publication link: 9a000f75-7a9c-4580-803a-324b9d06b024
  • Elson, E., Perveen, R., Donnai, D., Wall, S., & Black, G. C. M. (2002). De novo GL13 mutation in acrocallosal syndrome: broadening the phenotypic specturm of GL13 defects and overlap with murine models. Journal of Medical Genetics, 39, 804-806. DOI: 10.1136/jmg.39.11.804. Publication link: 1b66fb4f-7d07-4967-b6bd-d33e070c5b79
  • Mcleod, D., McLeod, D., Black, G. C. M., Bishop, P. N., & Parentin, F. (2002). Vitreous phenotype: Genotype correlation in Stickler syndrome (multiple letters) [1]. Graefe's Archive for Clinical and Experimental Ophthalmology, 240(1), 63-65. . Publication link: 1d38eb1f-ac93-4da3-93fb-9c362d2bd103
  • Jamieson, R. V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., ... Urquhart, J. (2002). Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Human Molecular Genetics, 11(1), 33-42. DOI: 10.1093/hmg/11.1.33. Publication link: c6f85a3c-eb10-4375-a4db-df97d40a2ab1
  • Munier, F. L., Frueh, B. E., Othenin-Girard, P., Uffer, S., Cousin, P., Wang, M. X., ... Schorderet, D. F. (2002). BIGH3 mutation spectrum in corneal dystrophies. Investigative Ophthalmology and Visual Science, 43(4), 949-954. . Publication link: e3f55ea8-d0ed-4e25-9856-75a038b00dd7


  • Black, G. C. M., & Donnai, D. (2001). Genetic testing - Swings and roundabouts: A view from the united kingdom. British Journal of Ophthalmology, 85(12), 1402-1404. DOI: 10.1136/bjo.85.12.1402. Publication link: badad5b9-8eea-4cfc-8478-5f2c5bca4adc
  • Biswas, S., Munier, F. L., Urquhart, J. E., Hart-Holden, N., Perveen, R., Cousin, P., ... Black, G. C. M. (2001). Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Human Molecular Genetics, 10, 2415-2423. DOI: 10.1093/hmg/10.21.2415. Publication link: cc69010e-bd08-4042-a1b7-483c643645e2
  • Downes, S. M., Black, G. C. M., Hyman, N., Simmonds, M., Morris, J., & Barton, C. (2001). Visual loss due to progressive multifocal leukoencephalopathy in a congenital immunodeficiency disorder. Archives of Ophthalmology, 119(9), 1376-1378. . Publication link: 51ce14d9-0d2e-43bd-8af0-7bc843a364e3
  • Watson, P., Black, G., Ramsden, S., Barrow, M., Super, M., Kerr, B., & Clayton-Smith, J. (2001). Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. Journal of Medical Genetics, 38(4), 224-228. . Publication link: 700d9eb3-0471-46b4-95e0-970e1abbbb22
  • Toomes, C., Marchbank, N. J., Mackey, D. A., Craig, J. E., Newbury-Ecob, R. A., Bennett, C. P., ... Churchill, A. J. (2001). Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Human Molecular Genetics, 10(13), 1369-1378. DOI: 10.1093/hmg/10.13.1369. Publication link: 946cd284-bf0d-423e-857b-54ce1a055a65


  • Downes, S. M., & Black, G. C. M. (2000). Optic neuropathy as a presenting feature of multifocal leucencephalitis. Archives of Ophthalmology. . Publication link: 01f6e34d-ee88-4931-8ca0-71b39f719550
  • Stewart, H. S., Parveen, R., Ridgway, A. E., Bonshek, R., Black, G. C. M., & Perveen, R. (2000). Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. British Journal of Ophthalmology, 84(4), 390-394. DOI: 10.1136/bjo.84.4.390. Publication link: 44492a12-b6e0-4eef-9820-1a45389cc040
  • Clayton-Smith, J., Watson, P., Ramsden, S., & Black, G. C. M. (2000). Somatic mutation in the MECP2 gene may be a cause of non-lethal neurodevelopmental diosrder in males.Lancet, 356(9232). . Publication link: 9f05eee8-f218-4929-b756-6e14c8a65be9
  • Perveen, R., Lloyd, I. C., Clayton-Smith, J., Churchill, A., Van Heyningen, V., Hanson, I., ... Black, G. C. M. (2000). Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Investigative Ophthalmology and Visual Science, 41(9), 2456-2460. . Publication link: 57daf010-105b-4070-a7ec-ef18086a7de3
  • Perveen, R., Lloyd, I. C., Clayton-Smith, J., Churchill, A., Van, H. V., Hanson, I., ... Black, G. (2000). Phentotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Investigative Ophthalmology and Vision Sciences, 41. . Publication link: 567073b3-2643-40a1-9677-615b26b3f636
  • Ridgway, A. E. A., Black, G. C. M., & Stewart, H. (2000). Lattice corneal dystrophy. Ophthalmology, 107. . Publication link: 780f15ec-dc94-4ffa-88a5-8b896b8650aa
  • Ridgeway, A. E. A., Akhtar, S., Munier, F. L., Schorderet, D. F., Stewart, H., Perveen, . U., ... Black, G. (2000). An ultrastructual and molecular evaluation of Bowman's layer corneal dystrophies types I and II. Investigative Ophthalmology and Vision Sciences, 41. . Publication link: f0722155-df4e-4ea5-9ee3-71232ee0e874
  • Clayton-Smith, J., Watson, P., Ramsden, S., & Black, G. C. M. (2000). Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. The Lancet, 356(9232), 830-832. DOI: 10.1016/S0140-6736(00)02661-1. Publication link: be37e4fc-4d47-4472-abc8-aa88667f8382
  • Ridgway, A. E. A., Akhtar, S., Munier, F. L., Schorderet, D. F., Stewart, H., Perveen, R., ... Black, G. C. M. (2000). Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?Investigative Ophthalmology and Vision Sciences, 41. . Publication link: bae3cdef-728c-4dbf-a784-ea5545cc00c3
  • Murton, N. J., Rehman, I., Black, G. C., Inglehearn, C. F., & Churchill, A. J. (2000). A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.Human Mutation, 15(6), 582. . Publication link: fb635317-046c-4863-a6e5-421c7bf30f30
  • Ridgeway, A. E. A., Black, G. C. M., & Stewart, H. (2000). A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetrical, late-onset form of lattice corneal dystrophy: Author's reply to Schmitt-Bernard. Ophthalmology, 107. . Publication link: ffdbd1d3-60e4-455d-b25b-0ffa55eb2a9b


  • Doward, W., Perveen, R., Lloyd, I. C., Ridgway, A. E. A., Wilson, L., & Black, G. C. M. (1999). A mutation in the RIEG1 gene associated with Peters' anomaly. Journal of Medical Genetics, 36(2), 152-155. . Publication link: 1a3b915a-a220-4a85-be79-6934547f6861
  • Black, G. C. M., Perveen, R., Wiszniewski, W., Dodd, C. L., Donnai, D., & McLeod, D. (1999). A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14. Ophthalmology, 106(11), 2074-2081. . Publication link: 7eb8dfca-7252-4675-9544-950576f1def0
  • Beatty, S., Black, G., Rhatigan, M., & Bishop, P. (1999). Bilateral subfoveal choroidal neovascularization in Turner's syndrome: Coincidence or consequence?Canadian Journal of Ophthalmology, 34(6), 346-348. . Publication link: 73f8151b-d390-4e3f-905e-c1c6112d13fa
  • Black, G. C. M., Perveen, R., Bonshek, R., Cahill, M., Clayton-Smith, J., Lloyd, I. C., & McLeod, D. (1999). Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: A role for norrin in retinal angiogenesis. Human Molecular Genetics, 8(11), 2031-2035. DOI: 10.1093/hmg/8.11.2031. Publication link: 67d2eb65-4039-4a11-b0fa-3fdad7d2621a
  • Black, G. C. M., Perveen, R., Wiszniewski, W., Dodd, C. L., Donnai, D., & McLeod, D. (1999). A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities ocalizing to a f-cM region of chromosome fq13-q14. Ophthalmology, 106. . Publication link: b99ef883-11aa-4b6a-8fe1-a1eb0e8c324f
  • Perveen, R., Hart-Holden, N., Dixon, M. J., Wiszniewski, W., Fryer, A. E., Bruner, H. G., ... Black, G. C. M. (1999). Refined genetic and physical localisation of Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2-2.5cM region of chromosome 5q14.3. Genomics, 57. . Publication link: c7b3e8b0-986c-4bea-b5f3-aeb394964cce
  • Black, G. C. M., Boulton, M., Bishop, P. N., & McLeod, D. (1999). Ophthalmology in the post-genomic era (perspective). British Journal Of Ophthalmology, 83. . Publication link: f7805ef1-ef3f-430b-ac07-2f740a25534c
  • Stewart, H. S., Ridgway, A. E., Dixon, M. J., Bonshek, R. R., Perveen, R., & Black, G. C. M. (1999). Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene - lessons for corneal anyloidogenesis. Human Mutation, 14. . Publication link: f8e49f5a-a470-445b-9cee-9306a70289da


  • Black, G. C. M., Perveen, R., Hatchwell, E., Reck, A., & Clayton-Smith, J. (1998). Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). Journal of Medical Genetics, 35(12), 985-988. . Publication link: 7ae987d6-f694-4a8c-bb70-2510f7bdca8f
  • Wu, C. L., Thakker, N., Neary, W., Black, G., Lye, R., Ramsden, R. T., ... Evans, D. G. R. (1998). Differential diagnosis of type 2 neurofibromatosis: Molecular discrimination of NF2 and sporadic vestibular schwannomas. Journal of Medical Genetics, 35(12), 973-977. . Publication link: 1ee0a32c-a7ce-443d-8268-c6162641e667 | PubMed:9863591


  • Black, G. C. M., Morten, K., Laborde, A., & Poulton, J. (1996). Leber's hereditary Optic neuropathy:heteroplasmy is likely ot be significant in the expression of LHON in families with the 3460 ND1 mutation. Journal Of Ophthalmology, 80. . Publication link: e3c3a8a9-4d82-4c12-8a98-27415184fef8