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Professor Graeme Black - publications

List of publications


  • Gillespie, R., Hall, G. & Black, G Genetic testing for inherited ocular disease: delivering on the promise at last? Clin Experiment Ophthalmol, 42(1), 65-77. eScholarID:241396 | PMID:23845030 | DOI:10.1111/ceo.12159
  • Urquhart, J., Black, G. & Clayton-Smith, J 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Genet, 52(6), 454-7. eScholarID:83936 | PMID:19576302 | DOI:10.1016/j.ejmg.2009.06.003


  • Clarke, E., Combs, R., Black, G. & Hall, G (2014). Patient Expectations and Attitudes Towards Specialist Genetic Eye Services. J Genet Couns, eScholarID:241398 | PMID:25273951 | DOI:10.1007/s10897-014-9775-7
  • Courtney, D., Atkinson, S., Moore, J., Maurizi, E., Serafini, C., Pellegrini, G., Black, G., Manson, F., Yam, G., Macewen, C., Allen, E., McLean, W. & Moore, C (2014). Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I. Invest Ophthalmol Vis Sci, 55(2), 977-85. eScholarID:241390 | PMID:24425855 | DOI:10.1167/iovs.13-13279
  • Gillespie, R., O'Sullivan, J., Ashworth, J., Bhaskar, S., Williams, S., Biswas, S., Kehdi, E., Ramsden, S., Clayton-Smith, J., Black, G. & Lloyd, I (2014). Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing. Ophthalmology, eScholarID:241399 | PMID:25148791 | DOI:10.1016/j.ophtha.2014.06.006
  • Gillespie, R., Lloyd, I. & Black, G (2014). The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens. Hum Hered, 77(1-4), 118-37. eScholarID:241404 | PMID:25060275 | DOI:10.1159/000362599
  • Hanson, D., Stevens, A., Murray, P., Black, G. & Clayton, P (2014). Identifying biological pathways that underlie primordial short stature using network analysis. J Mol Endocrinol, 52(3), 333-44. eScholarID:241397 | PMID:24711643 | DOI:10.1530/JME-14-0029
  • Hull, S., Arno, G., Plagnol, V., Chamney, S., Russell-Eggitt, I., Thompson, D., Ramsden, S., Black, G., Robson, A., Holder, G., Moore, A. & Webster, A (2014). The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX, With Report of a Novel Macular Dystrophy Phenotype. Invest Ophthalmol Vis Sci, 55(10), 6934-44. eScholarID:241403 | PMID:25270190 | DOI:10.1167/iovs.14-14715
  • Köhler, et al (2014). The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res, 42(Database issue), D966-74. eScholarID:241402 | PMID:24217912 | DOI:10.1093/nar/gkt1026
  • Lechner, J., Porter, L., Rice, A., Vitart, V., Armstrong, D., Schorderet, D., Munier, F., Wright, A., Inglehearn, C., Black, G., Simpson, D., Manson, F. & Willoughby, C (2014). Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. Hum Mol Genet, 23(20), 5527-35. eScholarID:241395 | PMID:24895405 | DOI:10.1093/hmg/ddu253
  • MacLaren, R., Groppe, M., Barnard, A., Cottriall, C., Tolmachova, T., Seymour, L., Clark, K., During, M., Cremers, F., Black, G., Lotery, A., Downes, S., Webster, A. & Seabra, M (2014). Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet, 383(9923), 1129-37. eScholarID:241401 | PMID:24439297 | DOI:10.1016/S0140-6736(13)62117-0
  • Moosajee, M., Ramsden, S., Black, G., Seabra, M. & Webster, A (2014). Clinical utility gene card for: choroideremia. Eur J Hum Genet, 22(4), eScholarID:241392 | PMID:23963298 | DOI:10.1038/ejhg.2013.183
  • Newman, W. & Black, G (2014). Delivery of a clinical genomics service. Genes (Basel), 5(4), 1001-17. eScholarID:241391 | PMID:25383561 | DOI:10.3390/genes5041001
  • Porter, L. & Black, G (2014). Personalized ophthalmology. Clin Genet, 86(1), 1-11. eScholarID:241400 | PMID:24665880 | DOI:10.1111/cge.12389
  • Sergouniotis, P., Perveen, R., Thiselton, D., Giannopoulos, K., Sarros, M., Davies, J., Biswas, S., Ansons, A., Ashworth, J., Lloyd, I., Black, G. & Votruba, M (2014). Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics, eScholarID:241394 | PMID:25159689 | DOI:10.1007/s10048-014-0416-y


  • Burkitt Wright, E., Porter, L., Spencer, H., Clayton-Smith, J., Au, L., Munier, F., Smithson, S., Suri, M., Rohrbach, M., Manson, F. & Black, G (2013). Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet J Rare Dis, 8, 68. eScholarID:205114 | PMID:23642083 | DOI:10.1186/1750-1172-8-68
  • Carr, I., Bhaskar, S., O'Sullivan, J., Aldahmesh, M., Shamseldin, H., Markham, A., Bonthron, D., Black, G. & Alkuraya, F (2013). Autozygosity mapping with exome sequence data. Hum Mutat, 34(1), 50-6. eScholarID:205118 | PMID:23090942 | DOI:10.1002/humu.22220
  • Carr, I., Morgan, J., Watson, C., Melnik, S., Diggle, C., Logan, C., Harrison, S., Taylor, G., Pena, S., Markham, A., Alkuraya, F., Black, G., Ali, M. & Bonthron, D (2013). Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. Hum Mutat, 34(7), 945-52. eScholarID:205126 | PMID:23554237 | DOI:10.1002/humu.22322
  • Combs, R., Hall, G., Payne, K., Lowndes, J., Devery, S., Downes, S., Moore, A., Ramsden, S., Black, G. & McAllister, M (2013). Understanding the expectations of patients with inherited retinal dystrophies. Br J Ophthalmol, 97(8), 1057-61. eScholarID:205128 | PMID:23740962 | DOI:10.1136/bjophthalmol-2012-302911
  • Eden, M., Payne, K., Combs, R., Hall, G., McAllister, M. & Black, G (2013). Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method. Br J Ophthalmol, 97(8), 1051-6. eScholarID:205130 | PMID:23743435 | DOI:10.1136/bjophthalmol-2012-303020
  • Gillespie, R., Hall, G. & Black, G (2013). Genetic testing for inherited ocular disease: delivering on the promise at last? Clin Experiment Ophthalmol, eScholarID:205124 | PMID:23845030 | DOI:10.1111/ceo.12159
  • Jenkinson, E., Rehman, A., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R., Drummond, M., Khan, S., Naeem, M., Rauf, B., Billington, N., Schultz, J., Urquhart, J., Lee, M., Berry, A., Hanley, N., Mehta, S., Cilliers, D., Clayton, P., Kingston, H., Smith, M., Warner, T., , , Black, G., Trump, D., Davis, J., Ahmad, W., Leal, S., Riazuddin, S., King, M., Friedman, T. & Newman, W (2013). Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet, 92(4), 605-13. eScholarID:205132 | PMID:23541340 | DOI:10.1016/j.ajhg.2013.02.013
  • Murray, P., Hanson, D., Coulson, T., Stevens, A., Whatmore, A., Poole, R., Mackay, D., Black, G. & Clayton, P (2013). 3-M syndrome: a growth disorder associated with IGF2 silencing. Endocr Connect, 2(4), 225-35. eScholarID:241389 | PMID:24148222 | DOI:10.1530/EC-13-0065
  • Ramsden, S., O'Grady, A., Fletcher, T., O'Sullivan, J., Hart-Holden, N., Barton, S., Hall, G., Moore, A., Webster, A. & Black, G (2013). A clinical molecular genetic service for United Kingdom families with choroideraemia. Eur J Med Genet, 56(8), 432-8. eScholarID:205116 | PMID:23811034 | DOI:10.1016/j.ejmg.2013.06.003
  • Rohrbach, M., Spencer, H., Porter, L., Burkitt-Wright, E., Bürer, C., Janecke, A., Bakshi, M., Sillence, D., Al-Hussain, H., Baumgartner, M., Steinmann, B., Black, G., Manson, F. & Giunta, C (2013). ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Mol Genet Metab, 109(3), 289-95. eScholarID:205133 | PMID:23680354 | DOI:10.1016/j.ymgme.2013.04.014


  • O'Sullivan J, Mullaney BG, Bhaskar SS, Dickerson JE, Hall G, O'Grady A, Webster A, Ramsden SC, Black GC. (2012). A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. Journal of Medical Genetics, 49(5), 322-326. eScholarID:176114 | DOI:10.1136/jmedgenet-2012-100847
  • Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD. (2012). Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). Eur J Hum Genet, 20(5), eScholarID:176118
  • Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT. (2012). Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study. Invest Ophthalmol Vis Sci, 53, 3927-3938. eScholarID:176105 | DOI:10.1167/iovs.12-9548
  • Clayton PE, Hanson D, Magee L, Murray PG, Saunders E, Abu-Amero SN, Moore GE, Black GC. (2012). Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clin Endocrinol (Oxf), 77, 335-342. eScholarID:176096 | DOI:10.1111/j.1365-2265.2012.04428.x
  • Edwards TL, Burt BO, Black GC, Perveen R, Kearns LS, Staffieri SE, Toomes C, Buttery RG, Mackey DA. (2012). Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. Clin Experiment Ophthalmol, 40, 476-483. eScholarID:176099 | DOI:10.1111/j.1442-9071.2012.02804.x
  • Banka et al. (2012). How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet, 20, 381-388. eScholarID:176119 | DOI:10.1038/ejhg.2011.220
  • Davies WI, Downes SM, Fu JK, Shanks ME, Copley RR, Lise S, Ramsden SC, Black GC, Gibson K, Foster RG, Hankins MW, Németh AH. (2012). Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin. eScholarID:176109
  • Anderson, et al (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet, 44(3), 338-42. eScholarID:205120 | PMID:22267198 | DOI:10.1038/ng.1084
  • Hanson, D., Murray, P., Coulson, T., Sud, A., Omokanye, A., Stratta, E., Sakhinia, F., Bonshek, C., Wilson, L., Wakeling, E., Temtamy, S., Aglan, M., Rosser, E., Mansour, S., Carcavilla, A., Nampoothiri, S., Khan, W., Banerjee, I., Chandler, K., Black, G. & Clayton, P (2012). Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. J Mol Endocrinol, 49(3), 267-75. eScholarID:205125 | PMID:23018678 | DOI:10.1530/JME-12-0034
  • Jun, A., Meng, H., Ramanan, N., Matthaei, M., Chakravarti, S., Bonshek, R., Black, G., Grebe, 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. Hum Mol Genet, 21(2), 384-93. eScholarID:144324 | PMID:22002996 | DOI:10.1093/hmg/ddr473
  • Mitchell, K., O'Sullivan, J., Missero, C., Blair, E., Richardson, R., Anderson, B., Antonini, D., Murray, J., Shanske, A., Schutte, B., Romano, R., Sinha, S., Bhaskar, S., Black, G., Dixon, J. & Dixon, M (2012). Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. Am J Hum Genet, 90(1), 69-75. eScholarID:205121 | PMID:22197488 | DOI:10.1016/j.ajhg.2011.11.013


  • Maher GJ, Black GC, Manson FD. (2011). Focus on Molecules: Lens intrinsic membrane protein (LIM2/MP20). Exp Eye Research, eScholarID:176120
  • Porter LF, Urquhart JE, O’Donoghue E, Spencer AF, Wade EM, Manson FDC, Black GCM. (2011). Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2. Invest Ophthalmol Vis Sci, 2011(52), 7859-7865. eScholarID:176124
  • Kousal B, Chakarova F, Black GC, Ramsden S, Langrová H, Lisková P. (2011). Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1. Cesk Slov Oftalmol, 67, 170-174. eScholarID:176107
  • Maher GJ, Hilton EN, Urquhart JE, Davidson AE, Spencer HL, Black GC, Manson FD. (2011). The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members. FEBS Lett, 585, 2187-2192. eScholarID:176127 | DOI:10.1016/j.febslet.2011.05.060
  • Hanson D, Murray PG, Black GC, Clayton PE. (2011). The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway. Horm Res Paediatr, 76, 369-378. eScholarID:176117 | DOI:10.1159/000334392
  • Borman, A., Davidson, A., O'Sullivan, J., Thompson, D., Robson, A., De Baere, E., Black, G., Webster, A., Holder, G., Leroy, B., Manson, F. & Moore, A (2011). Childhood-onset autosomal recessive bestrophinopathy. Arch Ophthalmol, 129(8), 1088-93. eScholarID:144323 | PMID:21825197 | DOI:10.1001/archophthalmol.2011.197
  • Briggs, et al (2011). Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet, 43(2), 127-31. eScholarID:144336 | PMID:21217755 | DOI:10.1038/ng.748
  • Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A., Thomas, T., Biesecker, L., Smith, P., Fryer, A., Chandler, K., Kerr, B., Tassabehji, M., Lynch, S., Krajewska-Walasek, M., McKee, S., Smith, J., Sweeney, E., Mansour, S., Mohammed, S., Donnai, D. & 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. eScholarID:144338 | PMID:22077973 | DOI:10.1016/j.ajhg.2011.10.008
  • Davidson, A., Millar, I., Burgess-Mullan, R., Maher, G., Urquhart, J., Brown, P., Black, G. & Manson, F (2011). Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci, 52(6), 3730-6. eScholarID:144331 | PMID:21330666 | DOI:10.1167/iovs.10-6707
  • Hannibal, M., Buckingham, K., Ng, S., Ming, J., Beck, A., McMillin, M., Gildersleeve, H., Bigham, A., Tabor, H., Mefford, H., Cook, J., Yoshiura, K., Matsumoto, T., Matsumoto, N., Miyake, N., Tonoki, H., Naritomi, K., Kaname, T., Nagai, T., Ohashi, H., Kurosawa, K., Hou, J., Ohta, T., Liang, D., Sudo, A., Morris, C., Banka, S., Black, G., Clayton-Smith, J., Nickerson, D., Zackai, E., Shaikh, T., Donnai, D., Niikawa, N., Shendure, J. & Bamshad, M (2011). Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A, 155A(7), 1511-6. eScholarID:144333 | PMID:21671394 | DOI:10.1002/ajmg.a.34074
  • Hanson, D., Murray, P., O'Sullivan, J., Urquhart, J., Daly, S., Bhaskar, S., Biesecker, L., Skae, M., Smith, C., Cole, T., Kirk, J., Chandler, K., Kingston, H., Donnai, D., Clayton, P. & Black, G (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. Am J Hum Genet, 89(1), 148-153. eScholarID:144328 | PMID:21737058 | DOI:10.1016/j.ajhg.2011.05.028
  • Low, S., Davidson, A., Holder, G., Hogg, C., Bhattacharya, S., Black, G., Foster, P. & Webster, A (2011). Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study. Mol Vis, 17, 2272-82. eScholarID:144325 | PMID:21921978
  • Mitchell, K., O'Sullivan, J., Missero, C., Blair, E., Richardson, R., Anderson, B., Antonini, D., Murray, J., Shanske, A., Schutte, B., Romano, R., Sinha, S., Bhaskar, S., Black, G., Dixon, J. & Dixon, M (2011). Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus. Am J Hum Genet, eScholarID:144329 | PMID:22197488 | DOI:10.1016/j.ajhg.2011.11.013
  • O'Sullivan, J., Bitu, C., Daly, S., Urquhart, J., Barron, M., Bhaskar, S., Martelli-Junior, H., dos Santos Neto, P., Mansilla, M., Murray, J., Coletta, R., Black, G. & Dixon, M (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. eScholarID:126093 | DOI:10.1016/j.ajhg.2011.04.005
  • Osbun, N., Li, J., O'Driscoll, M., Strominger, Z., Wakahiro, M., Rider, E., Bukshpun, P., Boland, E., Spurrell, C., Schackwitz, W., Pennacchio, L., Dobyns, W., Black, G. & Sherr, E (2011). Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A, 155A(8), 1865-76. eScholarID:144332 | PMID:21739582 | DOI:10.1002/ajmg.a.34081
  • Wright, E., Spencer, H., Daly, S., Manson, F., Zeef, L., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Madden, C., Dodds, A., Chandler, K., Banka, S., Au, L., Clayton-Smith, J., Khan, N., Biesecker, L., Wilson, M., Rohrbach, M., Colombi, M., Giunta, C. & Black, G (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. eScholarID:126094 | DOI:10.1016/j.ajhg.2011.05.007


  • Banka, S., Lloyd, I., 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. Clin Dysmorphol, 19(2), 73-5. eScholarID:83931 | PMID:20177379 | DOI:10.1097/MCD.0b013e328331a6d7
  • Daly, S., Urquhart, J., Hilton, E., McKenzie, E., Kammerer, R., Lewis, M., Kerr, B., Stuart, H., Donnai, D., Long, D., Burgu, B., Aydogdu, O., Derbent, M., Garcia-Minaur, S., Reardon, W., Gener, B., Shalev, S., Smith, R., Woolf, A., Black, G. & Newman, W (2010). Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet, 86(6), 963-9. eScholarID:83927 | PMID:20560210 | DOI:10.1016/j.ajhg.2010.05.006
  • Nishimura, D., Baye, L., Perveen, R., Searby, C., Avila-Fernandez, A., Pereiro, I., Ayuso, C., Valverde, D., Bishop, P., Manson, F., Urquhart, J., Stone, E., Slusarski, D., Black, G. & Sheffield, V (2010). Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet, 86(5), 686-95. eScholarID:83929 | PMID:20398886 | DOI:10.1016/j.ajhg.2010.03.005
  • Towns, K., Kipioti, A., Long, V., McKibbin, M., Maubaret, C., Vaclavik, V., Ehsani, P., Springell, K., Kamal, M., Ramesar, R., Mackey, D., Moore, A., Mukhopadhyay, R., Webster, A., Black, G., O'Sullivan, J., Bhattacharya, S., Pierce, E., Beggs, J. & Inglehearn, C (2010). Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat, 31(5), E1361-76. eScholarID:83930 | PMID:20232351 | DOI:10.1002/humu.21236
  • Whibley, A., Urquhart, J., Dore, J., Willatt, L., Parkin, G., Gaunt, L., Black, G., Donnai, D. & Raymond, F (2010). Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. Eur J Hum Genet, eScholarID:83928 | PMID:20485326 | DOI:10.1038/ejhg.2010.41


  • Urquhart JE, Black GCM, Clayton-Smith J. (2009). 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Genet, eScholarID:1d20649 | DOI:10.1016/j.ejmg.2009.06.003
  • Kalyanasundaram T, Black GCM, O'Sullivan J, Bishop PN. (2009). A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation. Eye, 23( 1), 237-239. eScholarID:1d20124 | DOI:10.1038/eye.2008.33
  • Hilton, E, Johnston, J, Whalen, S, Okamoto, N, Hatsukawa, Y, Nishio, J, Kohara, H, Hirano, Y, Mizuno, S, Torii, C, Kosaki, K, Manouvrier, S, Boute, O, Perveen, R, Law, C, Moore, A, Fitzpatrick, D, Lemke, J, Fellmann, F, Debray, F, Dastot-Le-Moal, F, Gerard, M, Martin, J, Bitoun, P, Goossens, M, Verloes, A, Schinzel, A, Bartholdi, D, Bardakjian, T, Hay, B, Jenny, K, Johnston, K, Lyons, M, Belmont, J, Biesecker, L, Giurgea, I, Black, GCM. (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet, eScholarID:1d20651 | DOI:10.1038/ejhg.2009.52
  • Burkitt Wright, E., Perveen, R., Clayton, P., Hall, C., Costa, T., Procter, A., Giblin, C., Donnai, D. & Black, G (2009). X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. Clin Dysmorphol, 18(4), 218-21. eScholarID:83934 | PMID:19654509 | DOI:10.1097/MCD.0b013e32832d06f0
  • Davidson, A., Millar, I., Urquhart, J., Burgess-Mullan, R., Shweikh, Y., Parry, N., O'Sullivan, J., Maher, G., McKibbin, M., Downes, S., Lotery, A., Jacobson, S., Brown, P., Black, G. & Manson, F (2009). Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet, 85(5), 581-92. eScholarID:83932 | PMID:19853238 | DOI:10.1016/j.ajhg.2009.09.015
  • Giorda, R., Bonaglia, M., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F., Zucca, C., Grasso, R., Marelli, S., Castiglia, L., Di Benedetto, D., Musumeci, S., Vitello, G., Failla, P., Reitano, S., Avola, E., Bisulli, F., Tinuper, P., Mastrangelo, M., Fiocchi, I., Spaccini, L., Torniero, C., Fontana, E., Lynch, S., Clayton-Smith, J., Black, G., Jonveaux, P., Leheup, B., Seri, M., Romano, C., dalla Bernardina, B. & 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. Am J Hum Genet, 85(3), 394-400. eScholarID:83933 | PMID:19716111 | DOI:10.1016/j.ajhg.2009.08.001
  • Hanson, D., Murray, P., Sud, A., Temtamy, S., Aglan, M., Superti-Furga, A., Holder, S., Urquhart, J., Hilton, E., Manson, F., Scambler, P., Black, G. & Clayton, P (2009). The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet, 84(6), 801-6. eScholarID:83937 | PMID:19481195 | DOI:10.1016/j.ajhg.2009.04.021
  • Hilton, E., Johnston, J., Whalen, S., Okamoto, N., Hatsukawa, Y., Nishio, J., Kohara, H., Hirano, Y., Mizuno, S., Torii, C., Kosaki, K., Manouvrier, S., Boute, O., Perveen, R., Law, C., Moore, A., Fitzpatrick, D., Lemke, J., Fellmann, F., Debray, F., Dastot-Le-Moal, F., Gerard, M., Martin, J., Bitoun, P., Goossens, M., Verloes, A., Schinzel, A., Bartholdi, D., Bardakjian, T., Hay, B., Jenny, K., Johnston, K., Lyons, M., Belmont, J., Biesecker, L., Giurgea, I. & Black, G (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet, 17(10), 1325-35. eScholarID:83938 | PMID:19367324 | DOI:10.1038/ejhg.2009.52


  • Sivaprasad S, Kung B, Robson A, Black GCM, Webster A, Bird A, Egan C. (2008). A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation. Clin Experiment Ophthalmol, 36( 1), 92-3. eScholarID:1d20657 | DOI:10.1111/j.1442-9071.2007.01656.x
  • Burgess, R, Millar, I, Leroy, B, Urquhart, JE, Fearon, I, De Baere, E, Brown, P, Robson, A, Wright, G, Kestelyn, P, Holder, G, Webster, A, Manson, FDC, Black, GCM. (2008). Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans. American journal of human genetics, 82(1), 19-31. eScholarID:1d18788 | DOI:10.1016/j.ajhg.2007.08.004
  • Banerjee I, Hanson DDE, Perveen R, Whatmore AJ, Black GCM, Clayton PE. (2008). Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene. Eur J Endocrinol, 158( 4), 473-477. eScholarID:1d18726 | DOI:10.1530/EJE-07-0769
  • Lo, I, Brewer, C, Shannon, N, Shorto, J, Tang, B, Black, GCM, Soo, M, Ng, D, Lam, S, Kerr, B. (2008). Severe neonatal manifestations of Costello syndrome. J Med Genet, 45( 3), 167-71. eScholarID:1d20658 | DOI:10.1136/jmg.2007.054411
  • Fantes, J., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D. & Black, G (2008). FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality. Am J Hum Genet, 82(4), 916-26. eScholarID:83940 | PMID:18374296 | DOI:10.1016/j.ajhg.2008.02.007
  • McAlinden, A., Majava, M., Bishop, P., Perveen, R., Black, G., Pierpont, M., Ala-Kokko, L. & Männikkö, M (2008). Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Hum Mutat, 29(1), 83-90. eScholarID:83944 | PMID:17721977 | DOI:10.1002/humu.20603
  • Newman, W., Clayton-Smith, J., Metcalfe, K., Cole, R., Tartaglia, M., Brancati, F., Morara, S., Novelli, A., Liu, X., Siminovitch, K., Mundlos, S., Tassabehji, M. & Black, G (2008). Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. Am J Med Genet A, 146A(23), 3034-7. eScholarID:83939 | PMID:19006212 | DOI:10.1002/ajmg.a.32564


  • Perveen R, Favor J, Jamieson R, Ray DW, Black GCM. (2007). A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation. Hum Mol Genet, 16( 9), 1030-8. eScholarID:1d31397
  • Cilliers DD, Parveen R, Clayton PE, Cairns S, Clarke S, Shalet SM, Black GCM, Newman WG, Clayton-Smith J. (2007). A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. European Journal of Medical Genetics, eScholarID:1d15561
  • Joy T, Cao H, Black GCM, Malik RA, Charlton-Menys V, Hegele R, Durrington PN. (2007). Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis, 2, eScholarID:1d19754 | DOI:10.1186/1750-1172-2-49
  • Jamieson, R, Farrar, N, Stewart, K, Perveen, R, Mihelec, M, Carette, M, Grigg, J, McAvoy, J, Lovicu, F, Tam, P, Scambler, P, Lloyd, I, Donnai, D, Black, GCM, Black, G. (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. Hum Mutat, eScholarID:1d31380 | DOI:10.1002/humu.20545
  • Tang B, Reardon W, Black GCM, Kerr B. (2007). Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome. Clin Dysmorphol, 16( 3), 203-6. eScholarID:1d31399
  • Hilton E, Black GCM, Manson FDC, Schorderet D, Munier F. (2007). De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy. Br J Ophthalmol, 91(8), 1083-1084. eScholarID:1d16321 | DOI:10.1136/bjo.2006.103283
  • Leroy BP, Kailasanathan A, De Laey JJ, Black GCM, Manson FDC. (2007). Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa. Br J Ophthalmol, 91(1), eScholarID:1d14002 | DOI:10.1136/bjo.2006.101915
  • McAlinden A, Majava M, Bishop PN, Bishop PN, Perveen R, Black GCM, Pierpont ME, Ala-Kokko L, Männikkö M. (2007). Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Hum Mutat, eScholarID:1d16483
  • Kantarci, S, Al-Gazali, L, Hill, R, Donnai, D, Black, G, Black, GCM, Bieth, E, Chassaing, N, Lacombe, D, Devriendt, K, Teebi, A, Loscertales, M, Robson, C, Liu, T, Maclaughlin, D, Noonan, K, Russell, M, Walsh, C, Donahoe, P, Pober, B. (2007). Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet, 39( 8), 957-959. eScholarID:1d31427 | DOI:10.1038/ng2063
  • Shu X, Black GCM, Rice J, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright A. (2007). RPGR mutation analysis and disease: an update. Hum Mutat, 28( 4), 322-8. eScholarID:1d31316
  • Boland, E., Clayton-Smith, J., Woo, V., McKee, S., Manson, F., Medne, L., Zackai, E., Swanson, E., Fitzpatrick, D., Millen, K., Sherr, E., Dobyns, W. & Black, G (2007). Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet, 81(2), 292-303. eScholarID:83945 | PMID:17668379 | DOI:10.1086/519999


  • Boutboul S, Black GCM, Moore J, Sinton J, Menasche M, Munier F, Laroche L, Abitbol M, Schorderet D. (2006). A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat, 27( 6), 553-7. eScholarID:1d30854
  • Khan A, Chandler KE, Pimenides D, Black GCM, Manson FDC. (2006). Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? British Journal Of Ophthalmology, 90(3), 390-391. eScholarID:1d27308 | DOI:10.1136/bjo.2005.080085
  • Mukhopadhyay, A, Nikopoulos, K, Maugeri, A, de Brouwer, A, van Nouhuys, C, Boon, C, Perveen, R, Zegers, H, Wittebol-Post, D, van den Biesen, P, van der Velde-Visser, S, Brunner, H, Black, GCM, Hoyng, C, Cremers, F. (2006). Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci, 47( 8), 3565-72. eScholarID:1d30568 | DOI:10.1167/iovs.06-0141
  • Michaelides M, Urquhart JE, Holder G, Restori M, Kayali N, Manson FDC, Black GCM. (2006). Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. Am J Ophthalmol, 141( 2), 418-20. eScholarID:1d13979
  • Urquhart JE, Biswas S, Black GCM, 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), eScholarID:1d31459
  • Kerr, B, Delrue M-A, Sigaudy S, Perveen, R, Marche M, Burgelin I, Stef M, Tang B, Eden, OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai, D, Stewart F, Raoul Hennekam, Hélène Cavé, Alain Verloes, Philip N, Lacombe D, Levy N, Arveiler B, Black, GCM. (2006). Genotype- phenotype correlation in Costello syndrome; HRAS mutation analysis in 43 cases. J Med Genet, 43, 401-405. eScholarID:1d13046 | DOI:10.1136/jmg.2005.040352
  • Chakarova, C, Cherninkova, S, Tournev, I, Waseem, N, Kaneva, R, Jordanova, A, Veraitch, B, Gill, B, Colclough, T, Nakova, A, Oscar, A, Mihaylova, V, Nikolova-Hill, A, Wright, A, Black, GCM, Ramsden, S, Kremensky, I, Bhattacharya, S. (2006). Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Mol Vis, 12, 909-14. eScholarID:1d30515


  • Huber, C, Dias-Santagata, D, Glaser, A, O'Sullivan, J, Brauner, R, Wu, K, Xu, X, Pearce, K, Wang, R, Uzielli, M, Dagoneau, N, Chemaitilly, W, Superti-Furga, A, Dos Santos, H, Mégarbané, A, Morin, G, Gillessen-Kaesbach, G, Hennekam, R, Van der Burgt, I, Black, GCM, Clayton, PE, Read, A, Le Merrer, M, Scambler, P, Munnich, A, Pan, Z, Winter, R, Cormier-Daire, V. (2005). Identification of mutations in CUL7 in 3-M syndrome. Nat Genet, 37( 10), 1119-24. eScholarID:1d30314 | DOI:10.1038/ng1628
  • Manson FDC, Trump D, Read AP, Black GCM. (2005). Inherited eye disease: cause and late effect. Trends in Molecular Medicine, 11(10), 449-455. eScholarID:1d11581
  • Johnston, et al. (2005). Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet, 76( 4), 609-22. eScholarID:1d30855 | DOI:10.1086/429346
  • McCann E, Kaye S, Newman W, Norbury G, Black GCM, Ellis I. (2005). Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. Am J Med Genet A, 138( 3), 278-81. eScholarID:1d31529


  • Quinn S, Black GCM, Biswas S, Clayton-Smith J, Lloyd I. (2004). Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. Ophthalmic Genet, 25( 4), 277-83. eScholarID:1d10672
  • Kolehmainen J, Wilkinson R, Lehesjoki A, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin A, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi E, Warburg M, Fryns J, Norio R, Black GCM, Manson FDC. (2004). Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet, 75(1), 122-127. eScholarID:1d10677 | DOI:10.1086/422197
  • Toomes, C, Bottomley, H, Jackson, R, Towns, K, Scott, S, Mackey, D, Craig, J, Jiang, L, Yang, Z, Trembath, R, Woodruff, G, Gregory-Evans, C, Gregory-Evans, K, Parker, M, Black, GCM, Downey, L, Zhang, K, Inglehearn, C. (2004). Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet, 74( 4), 721-30. eScholarID:1d10678 | DOI:10.1086/383202
  • Urquhart, JE, Leroy, B, Hart-Holden, N, Lafaut, B, Loeys, B, Messiaen, L, Perveen, R, Reddy, M, Bhattacharya, S, Traboulsi, E, Baralle, D, De Laey, J, Puech, B, Kestelyn, P, Moore, A, Manson, FDC, Black, GCM. (2004). Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci, 45( 10), 3683-9. eScholarID:1d10674 | DOI:10.1167/iovs.04-0550
  • Ng, D, Thakker, NS, Corcoran, C, Donnai, D, Perveen, R, Schneider, A, Hadley, D, Tifft, C, Zhang, L, Wilkie, A, van der Smagt, J, Gorlin, R, Burgess, S, Bardwell, V, Black, GCM, Biesecker, L. (2004). Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet, 36( 4), 411-6. eScholarID:1d10680 | DOI:10.1038/ng1321
  • Toomes, C, Bottomley, H, Scott, S, Mackey, D, Craig, J, Appukuttan, B, Stout, J, Flaxel, C, Zhang, K, Black, GCM, Fryer, A, Downey, L, Inglehearn, C. (2004). Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci, 45( 7), 2083-90. eScholarID:1d10675 | DOI:10.1167/iovs.03-1044


  • Lyon, M, Jamieson, R, Perveen, R, Glenister, P, Griffiths, R, Boyd, Y, Glimcher, L, Favor, J, Munier, F, Black, GCM. (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. Hum Mol Genet, 12( 6), 585-94. eScholarID:1d13973 | DOI:10.1093/hmg/12.6.585
  • Lyon MF, Jamieson RV, Perveen, R, Glenister PH, Griffiths R, Boyd Y, Glimcher L, Favor J, Munier FL, Black, GCM. (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. Hum Mol Genet, 12, 585-94. eScholarID:1d6371 | DOI:10.1093/hmg/ddg063
  • Black, GCM, Mazerolle, C, Wang, Y, Campsall, K, Petrin, D, Leonard, B, Damji, K, Evans, DDGR, McLeod, D, Wallace, V. (2003). Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development. Hum Mol Genet, 12( 24), 3269-76. eScholarID:1d13972 | DOI:10.1093/hmg/ddg356
  • Jamieson RV, Gaunt L, Donnai D, Black GCM, Kerr B, Secko O. (2003). Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis. Br J Opthalmol, 87(5), 646-8. eScholarID:1d6283
  • Kolehmainen J, Black, GCM, Saarinen A, Chandler K, Träskelin A-L, Perveen, R, Kivitie-Kallio S, Norio R, Warburg M, Fryns J-P, de la Chapelle A , Lehesjoki A-E. (2003). Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport. Am J Hum Genet, 72, 1359-1370. eScholarID:1d6361 | DOI:10.1086/375454
  • Kolehmainen, J, Black, GCM, Saarinen, A, Chandler, K, Clayton-Smith, J, Träskelin, A, Perveen, R, Kivitie-Kallio, S, Norio, R, Warburg, M, Fryns, J, de la Chapelle, A, Lehesjoki, A. (2003). Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet, 72( 6), eScholarID:1d30014 | DOI:10.1086/375454
  • Chandler KE, Kidd A, Al-Gazali L, Black GCM, Clayton-Smith J. (2003). Diagnostic criteria, clinical characteristics and natural history of Cohen Syndrome. J Med Genet, 40, 233-41. eScholarID:1d6367 | DOI:10.1136/jmg.40.4.233
  • Chandler K, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki A, Black GCM, Clayton-Smith J. (2003). Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet, 40( 4), eScholarID:1d30439
  • Astuti, D, Hart-Holden, N, Latif, F, Lalloo, F, Black, GCM, Lim, C, Moran, A, Grossman, A, Hodgson, S, Freemont, AJ, Ramsden, R, Eng, C, Evans, DDGR, Maher, E. (2003). Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clin Endocrinol (Oxf), 59( 6), 728-33. eScholarID:1d29418 | DOI:10.1046/j.1365-2265.2003.01914.x
  • Kerr, B, Mucchielli ML, Sigaudy S, Fabre M, Saunier P, Creusy P, Voelckel MA, , Howard E, Elles, R, Eden, OB, Black, GCM, Philip N. (2003). Is the locus for Costello syndrome on 11p? J Med Genet, 40, 469-71. eScholarID:1d6363 | DOI:10.1136/jmg.40.6.469
  • Jamieson RV, Kerr B, Donnai D, Black GCM. (2003). Karyotype analysis is essential where ocular anomalies are associated with other malformations or intellectual handicap. Br J Opthalmol, 87, 646-48. eScholarID:1d6365
  • Jamieson RV, Munier F, Balmer A, Farrar N, Perveen R, Black GCM. (2003). Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. Br J Opthalmol, 87, 411-2. eScholarID:1d6369 | DOI:10.1136/bjo.87.4.411


  • Irvine AD, Coleman CM, Moore JE, Swensson O, Morgan SJ, McCarthy JH, Smith FJD, Black GCM, McLean WHI. (2002). A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. British Journal Of Ophthalmology, 86, 729-732. eScholarID:1d23903 | DOI:10.1136/bjo.86.7.729
  • Munier, FL, Frueh, BE, Othenin-Girard, P, Uffer, S, Cousin, P, Wang, MX, Heon, E, Black, GCM, Blasi, MA, Balestrazzi, E, Lorenz, B, Escoto, B, Barraquer, R, Hoeltzenbein, M, Gloor, B, Fossarello, M, Singh, AD, Arsenijevic, Y, Zografos, L, Schorderet, DF. (2002). BIGH3 mutation spectrum in corneal dystrophies. Investigative Ophthalmology and Vision Sciences, 43, 949-954. eScholarID:1d23907
  • Elson E, Perveen R, Donnai D, Wall S, Black GCM. (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. eScholarID:1d5279 | DOI:10.1136/jmg.39.11.804
  • Jamieson, RV, Perveen, R, Kerr, B, Carette, MJM, Urquhart, JE, Heon, E, Wirth, MG, van Heyningen, Donnai, D, Munier, F, Black, GCM. (2002). Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Human Molecular Genetics, 11, 1-10. eScholarID:1d3284 | DOI:10.1093/hmg/11.1.33
  • Jamieson, R, Perveen, R, Kerr, B, Carette, M, Yardley, J, Heon, E, Wirth, M, van Heyningen, V, Donnai, D, Munier, F, Black, GCM. (2002). Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet, 11( 1), 33-42. eScholarID:1d13975 | DOI:10.1093/hmg/11.1.33
  • Mohyuddin, A, Neary, WJ, Wallace, A, Wu, CL, Purcell, S, Reid, H, Ramsden, RT, Read, AP, Black, GCM, Evans, DDGR. (2002). Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas. Journal Of Medical Genetics, 39, 315-322. eScholarID:1d3288 | DOI:10.1136/jmg.39.5.315
  • KE Chandler, Biswas S, IC Lloyd, Parry N, Clayton-Smith J, Black GCM. (2002). The ophthalmic findings in Cohen syndrome. British Journal Of Ophthalmology, 86, 1395-1398. eScholarID:1d4423 | DOI:10.1136/bjo.86.12.1395
  • Chandler K, Biswas S, Lloyd I, Parry N, Clayton-Smith J, Black GCM. (2002). The ophthalmic findings in Cohen syndrome. Br J Ophthalmol, 86( 12), eScholarID:1d30448
  • McLeod D-, Black GCM, Bishop PN. (2002). Vitreous phenotype: genotype correlation in Stickler syndrome. Graefe's Archive of Clinical and Experimental Ophthalmology, 240, eScholarID:17d230


  • Watson P, Black GCM, 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. J Med Genet, 38( 4), 224-8. eScholarID:1d30446
  • Watson P, Black GCM, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. (2001). Angelman syndrome phenotype associated with mutations in MECP2. Journal of Medical Genetics, 38, eScholarID:1d4011
  • Black GCM, Donnai D. (2001). Genetic testing - swings and roundabouts: a view from the United Kingdom. British Journal Of Ophthalmology, 85, 1402-1404. eScholarID:1d3299 | DOI:10.1136/bjo.85.12.1402
  • Gong, et al. (2001). LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development. Cell, 107, 513-523. eScholarID:1d2101 | DOI:10.1016/S0092-8674(01)00571-2
  • Biswas, S, Munier, FL, Urquhart, JE, Hart-Holden, N, Perveen, R, Cousin, P, Sutphin, JE, Noble, B, Batterbury, M, Kielty, CM, Hackett, A, Bonshek, RR, Ridgway, A, McLeod, D-, Sheffield, VC, Stone, EM, Schorderet, DF, Black, GCM. (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. eScholarID:1d23792 | DOI:10.1093/hmg/10.21.2415
  • Toomes, C, Marchbank, NJ, Mackey, DA, Craig, JE, Newbury-Ecob, RA, Bennett, CP, Vize, CJ, Desai, SP, Black, GCM, Patel, N, Teimory, M, Markham, AF, Inglehearn, CF, Churchill, AJ. (2001). Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Human Molecular Genetics, 10, 1369-1378. eScholarID:1d3304 | DOI:10.1093/hmg/10.13.1369
  • Downes S, Black GCM, Hyman N, Simmonds M, Morris J, Barton C. (2001). Visual loss due to progressive multifocal leukoencephalopathy in a congenital immunodeficiency disorder. Arch Ophthalmol, 119( 9), 1376-8. eScholarID:1d30422


  • Ridgeway AEA, Black GCM, 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, eScholarID:1d4500
  • Murton NJ, Rehman I, Black GCM, Inglehearn CF, Churchill AJ. (2000). A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia. Hum Mutat, 15, eScholarID:1d4490
  • Ridgeway AEA, Akhtar S, Munier FL, Schorderet DF, Stewart H, Perveen, R, Bonshek, RR, Odenthal MTP, Dixon, MJ, Barraquer R, Escoto R, Black, GCM. (2000). An ultrastructual and molecular evaluation of Bowman's layer corneal dystrophies types I and II. Investigative Ophthalmology and Vision Sciences, 41, 3286-3292. eScholarID:1d4499
  • Stewart HS, Perveen R, Ridgway AEA, Bonshek RR, Black GCM. (2000). Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. British Journal Of Ophthalmology, 84, 390-394. eScholarID:1d3335
  • Ridgway AEA, Black GCM, Stewart H. (2000). Lattice corneal dystrophy. Ophthalmology, 107, eScholarID:1d33363
  • Downes SM, Black GCM. (2000). Optic neuropathy as a presenting feature of multifocal leucencephalitis. Archives of Ophthalmology, eScholarID:1d4471
  • Perveen, R, Lloyd, I, Clayton-Smith, J, Churchill, A, van Heyningen, V, Hanson, I, Taylor, D, McKeown, C, Super, M, Kerr, B, Winter, R, Black, GCM. (2000). Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol Vis Sci, 41( 9), eScholarID:1d31683
  • Perveen, R, Lloyd IC , Clayton-Smith, J, Churchill A, Van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr, B, Winter R, Black, GCM. (2000). Phentotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Investigative Ophthalmology and Vision Sciences, 41, 2456-2460. eScholarID:1d4496
  • Clayton-Smith J, Watson P, Ramsden S, Black GCM. (2000). Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet, 356, 830-832. eScholarID:1d3293
  • Clayton-Smith J, Watson P, Ramsden S, Black GCM. (2000). Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet, 356( 9232), eScholarID:1d31684
  • Clayton-Smith J, Watson P, Ramsden S, Black GCM. (2000). Somatic mutation in the MECP2 gene may be a cause of non-lethal neurodevelopmental diosrder in males. Lancet, 356(9232), 830-832. eScholarID:1d4013
  • Ridgway, AEA, Akhtar, S, Munier, FL, Schorderet, DF, Stewart, H, Perveen, R, Bonshek, RR, Odenthal, MTP, Dixon, M, Barraquer, R, Escoto, R, Black, GCM. (2000). Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin? Investigative Ophthalmology and Vision Sciences, 41, 3286-3292. eScholarID:1d3246


  • Doward W, Perveen R, Lloyd IC, Ridgway AEA, Wilson L, Black GCM. (1999). A mutation in the RIEG1 gene associated with Peters' anomaly. Journal Of Medical Genetics, 36, 152-155. eScholarID:1d23934
  • Stewart H, Black GCM, Donnai D, Bonshek RR, McCarthy J, Morgan S, Dixon MJ, Ridgway AE. (1999). A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology, 106, eScholarID:1d23921
  • Black GCM, Perveen R, Wiszniewski W, Dodd C, 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, 2074-2081. eScholarID:1d3353
  • Black GCM, Perveen R, W Wiszniewski, CL Dodd, 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, 2074-2081. eScholarID:1d4409
  • Beatty S, Rhatigan M, Black GCM, Bishop PN. (1999). Bilateral subfoveal choroidal neovascularization in Turner syndrome: coincidence or consequence? Canadian Journal of Ophthalmology, 34, eScholarID:1d23927
  • Black GCM, Perveen R, Bonshek RR, Cahill M, Clayton-Smith J, Lloyd IC, 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, 2031-2035. eScholarID:1d3337
  • Stewart HS, Ridgway AE, Dixon MJ, Bonshek RR, Perveen R, Black GCM. (1999). Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene - lessons for corneal anyloidogenesis. Human Mutation, 14, 129-132. eScholarID:1d3339
  • Black GCM, Boulton M, Bishop PN, McLeod D-. (1999). Ophthalmology in the post-genomic era (perspective). British Journal Of Ophthalmology, 83, eScholarID:1d23931
  • Evans DDGR, Lye R, Neary W, Black GCM, Strachan T, Wallace ST, Ramsden RT. (1999). Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma. Journal Of Neurology,neurosurgery And Psychiatry, 66, 764-767. eScholarID:1d3359
  • Perveen R, Hart-Holden N, Dixon MJ, W Wiszniewski, AE Fryer, HG Bruner, AJLH Pinkners, SEC van Beersum, Black GCM. (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, 219-226. eScholarID:1d4421


  • CL Wu, Thakker NS, W Neary, Black GCM, R Lye, RT Ramsden, Read AP, Evans DDGR. (1998). Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. Journal Of Medical Genetics, 35, 973-977. eScholarID:1d4417
  • Black GCM, Perveen R, E Hatchwell, A Reck, Clayton-Smith J. (1998). Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). Journal Of Medical Genetics, 35, 985-988. eScholarID:1d4419


  • Black GCM, K Morten, A Laborde, J Poulton. (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, 915-917. eScholarID:1d4414