Graeme C M Black

Summary

Affiliation: University of Manchester
Country: UK

Publications

  1. pmc Brittle cornea syndrome: recognition, molecular diagnosis and management
    Emma M M Burkitt Wright
    Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
    Orphanet J Rare Dis 8:68. 2013
  2. doi request reprint A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
    James O'Sullivan
    Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St Mary s Hospital, Manchester, UK
    J Med Genet 49:322-6. 2012
  3. pmc Alstrom syndrome (OMIM 203800): a case report and literature review
    Tisha Joy
    Department of Vascular Biology and Medicine, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Orphanet J Rare Dis 2:49. 2007
  4. pmc Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
    Dan Hanson
    Department of Endocrinology, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, UK
    Am J Hum Genet 89:148-53. 2011
  5. doi request reprint Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2
    Louise F Porter
    School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Invest Ophthalmol Vis Sci 52:7859-65. 2011
  6. doi request reprint Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy
    Alice E Davidson
    School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, United Kingdom
    Invest Ophthalmol Vis Sci 52:3730-6. 2011
  7. doi request reprint The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway
    Dan Hanson
    Department of Endocrinology, Manchester Biomedical Centre, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester, UK
    Horm Res Paediatr 76:369-78. 2011
  8. pmc The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1
    Dan Hanson
    Endocrine Sciences, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
    Am J Hum Genet 84:801-6. 2009
  9. doi request reprint Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination
    Peter E Clayton
    Developmental Biomedicine, Manchester Academic Health Sciences Centre MAHSC, School of Biomedicine, University of Manchester, UK
    Clin Endocrinol (Oxf) 77:335-42. 2012
  10. pmc Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome
    James O'Sullivan
    Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester, UK
    Am J Hum Genet 88:616-20. 2011

Detail Information

Publications26

  1. pmc Brittle cornea syndrome: recognition, molecular diagnosis and management
    Emma M M Burkitt Wright
    Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
    Orphanet J Rare Dis 8:68. 2013
    ..Effective management depends upon appropriate identification of affected individuals, which may be challenging given the phenotypic overlap of BCS with other connective tissue disorders...
  2. doi request reprint A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
    James O'Sullivan
    Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St Mary s Hospital, Manchester, UK
    J Med Genet 49:322-6. 2012
    ..This study examines the possibility of incorporating NGS into a clinical UK service context...
  3. pmc Alstrom syndrome (OMIM 203800): a case report and literature review
    Tisha Joy
    Department of Vascular Biology and Medicine, Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada
    Orphanet J Rare Dis 2:49. 2007
    ..Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described...
  4. pmc Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
    Dan Hanson
    Department of Endocrinology, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, UK
    Am J Hum Genet 89:148-53. 2011
    ..We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth...
  5. doi request reprint Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2
    Louise F Porter
    School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Invest Ophthalmol Vis Sci 52:7859-65. 2011
    ..The authors investigated the genetic cause of primary open angle glaucoma in a large four-generation family with an apparent autosomal dominant mode of inheritance...
  6. doi request reprint Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy
    Alice E Davidson
    School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, United Kingdom
    Invest Ophthalmol Vis Sci 52:3730-6. 2011
    ..In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by investigating their effect on bestrophin-1's chloride conductance, cellular localization, and stability...
  7. doi request reprint The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway
    Dan Hanson
    Department of Endocrinology, Manchester Biomedical Centre, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester, UK
    Horm Res Paediatr 76:369-78. 2011
    ....
  8. pmc The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1
    Dan Hanson
    Endocrine Sciences, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
    Am J Hum Genet 84:801-6. 2009
    ..We were also able to demonstrate that loss of OBSL1 leads to downregulation of CUL7, implying a role for OBSL1 in the maintenance of CUL7 protein levels and suggesting that both proteins are involved within the same molecular pathway...
  9. doi request reprint Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination
    Peter E Clayton
    Developmental Biomedicine, Manchester Academic Health Sciences Centre MAHSC, School of Biomedicine, University of Manchester, UK
    Clin Endocrinol (Oxf) 77:335-42. 2012
    ....
  10. pmc Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome
    James O'Sullivan
    Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester, UK
    Am J Hum Genet 88:616-20. 2011
    ..Expression analyses indicated that Fam20a is expressed in ameloblasts and gingivae, providing biological plausibility for mutations in FAM20A underlying the pathogenesis of this syndrome...
  11. pmc Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
    Emma M M Burkitt Wright
    Genetic Medicine Research Group, Manchester Biomedical Research Centre, Manchester Academic Health Sciences Centre, University of Manchester and Central Manchester Foundation Trust, St Mary s Hospital, Manchester M13 9WL, UK
    Am J Hum Genet 88:767-77. 2011
    ..We show that ZNF469 and PRDM5, two genes that when mutated cause BCS, participate in the same regulatory pathway...
  12. pmc Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
    Alice E Davidson
    Genetic Medicine, The University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Am J Hum Genet 85:581-92. 2009
    ..L140V and p.D228N) caused mislocalization of bestrophin-1 from the basolateral membrane to the cytoplasm. Mutations in bestrophin-1 are increasingly recognized as an important cause of inherited retinal dystrophy...
  13. pmc Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus
    Karen Mitchell
    Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, UK
    Am J Hum Genet 90:69-75. 2012
    ....
  14. pmc A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1
    Alice E Davidson
    School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Mol Vis 16:2916-22. 2010
    ..102C>T, identified in two unrelated ARB patients, alters pre-mRNA splicing of the gene. Additionally a detailed phenotypic characterization of this distinctive condition is presented for both patients...
  15. doi request reprint Identification of genomic loci contributing to agenesis of the corpus callosum
    Mary C O'Driscoll
    University of Manchester, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, Hathersage Road, Manchester, M13 9WL, United Kingdom
    Am J Med Genet A 152:2145-59. 2010
    ....
  16. pmc Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria
    Mary C O'Driscoll
    University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, UK
    Am J Hum Genet 87:354-64. 2010
    ..We provide evidence that the tight junction protein occludin (encoded by the OCLN gene) is involved in the pathogenesis of malformations of cortical development...
  17. doi request reprint Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
    Beverley H Anderson
    Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, UK
    Nat Genet 44:338-42. 2012
    ..Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity...
  18. doi request reprint Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method
    Martin Eden
    Manchester Centre for Health Economics, Institute of Population Health, University of Manchester, Manchester, UK
    Br J Ophthalmol 97:1051-6. 2013
    ..This pilot study aimed to explore if contingent valuation method (CVM) can be used to value the benefits of genetic testing for RP...
  19. pmc Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
    Tracy A Briggs
    Manchester Academic Heath Science Centre, University of Manchester, Genetic Medicine, Manchester, UK
    Nat Genet 43:127-31. 2011
    ..Our findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism and highlight the importance of type I interferon in the genesis of autoimmunity...
  20. doi request reprint Breast cancer susceptibility variants alter risks in familial disease
    Ayse Latif
    Department of Medical Genetics, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester M13 0JH, UK
    J Med Genet 47:126-31. 2010
    ..Recent candidate and genome-wide association studies have identified variants altering susceptibility to breast cancer...
  21. doi request reprint Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
    William G Newman
    Academic Department of Medical Genetics, University of Manchester, and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Am J Med Genet A 146:3034-7. 2008
    ..Importantly, our study demonstrates that GO is not allelic to wrinkly skin syndrome caused by mutations in ATP6V0A2...
  22. ncbi request reprint Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
    Emma N Hilton
    Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 16:1773-82. 2007
    ..Expression of xtPitx2c was shown to be downregulated when xtBcor was depleted. This identifies a pathway in which xtBcor is required for lateral specification, a process intrinsically linked to correct cardiac septal development...
  23. doi request reprint 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate
    Jill Urquhart
    Genetic Medicine, University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospital, NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK
    Eur J Med Genet 52:454-7. 2009
    ..1 which includes SATB2, a gene previously shown to be associated with cleft palate. The phenotypic features of our patient are milder than those reported so far...
  24. doi request reprint Understanding the expectations of patients with inherited retinal dystrophies
    Ryan Combs
    Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK
    Br J Ophthalmol 97:1057-61. 2013
    ..Little research exists to define service requirements, or expectations, of patients and their families. This study aimed to explore the views and perceived benefits of genetic ophthalmology services among members of families with RD...
  25. ncbi request reprint Inherited eye disease: cause and late effect
    Forbes D C Manson
    Academic Unit of Eye and Vision Science, Manchester Royal Eye Hospital, School of Medicine, University of Manchester, Oxford Road, Manchester M13 9WH, UK
    Trends Mol Med 11:449-55. 2005
    ..We present arguments and examples that indicate that this principle might be a fruitful guide to investigating the causes of late-onset eye disorders...
  26. ncbi request reprint A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26
    Deirdre D Cilliers
    Academic Department of Medical Genetics and Regional Genetic Services, St Mary s Hospital, University of Manchester, Manchester, UK
    Eur J Med Genet 50:216-23. 2007
    ..However, the more severe mental retardation, muscle wasting and tremor described in this other family would suggest that our family is affected by a novel XLMR syndrome...