Prof Graeme Black

Professor of Genetics and Ophthalmology

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Publications

  1. 2019
  2. Published

    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

    Lenassi, E., Clayton-Smith, J., Douzgou, S., Ramsden, S. C., Ingram, S., Hall, G., Hardcastle, C. L., Fletcher, T. A., Taylor, R. L., Ellingford, J. M., Newman, W. D., Fenerty, C., Sharma, V., Lloyd, I. C., Biswas, S., Ashworth, J. L., Black, G. C. & Sergouniotis, P. I., 18 Dec 2019, In : Genetics in medicine : official journal of the American College of Medical Genetics.

    Research output: Contribution to journalArticle

  3. Published

    Clinical and genetic variability in children with partial albinism

    Campbell, P., Ellingford, J. M., Parry, N. R. A., Fletcher, T., Ramsden, S. C., Gale, T., Hall, G., Smith, K., Kasperaviciute, D., Thomas, E., Lloyd, I. C., Douzgou, S., Clayton-Smith, J., Biswas, S., Ashworth, J. L., Black, G. C. M. & Sergouniotis, P. I., 12 Nov 2019, In : Scientific Reports. 9, 1, p. 16576

    Research output: Contribution to journalArticle

  4. Published

    Diagnosing and Preventing Hearing Loss in the Genomic Age

    McDermott, J. H., Molina-Ramírez, L. P., Bruce, I. A., Mahaveer, A., Turner, M., Miele, G., Body, R., Mahood, R., Ulph, F., MacLeod, R., Harvey, K., Booth, N., Demain, L. A. M., Wilson, P., Black, G. C., Morton, C. C. & Newman, W. G., 18 Oct 2019, In : Trends in Hearing (Online). 23, p. 2331216519878983

    Research output: Contribution to journalArticle

  5. Accepted/In press

    Establishing genotype-phenotype correlation in USH2A-related disorders to personalise audiological surveillance and rehabilitation.

    Molina Ramirez, L., Lenassi, E., Ellingford, J., Sergouniotis, P., Ramsden, S., Bruce, I. & Black, G., 1 Oct 2019, (Accepted/In press) In : Otology and Neurotology.

    Research output: Contribution to journalArticle

  6. Published

    Genetic risk of AMD at both the CFH and ARMS2/HTRA1 loci is associated with increased protease expression and activity in human Bruch’s membrane/inner choroid.

    Day, A., Bishop, P., Mcharg, S., Bayatti, N., Perveen, R., Black, G., Dowsey, A., Clark, S. & Unwin, R., 22 Jul 2019, In : Investigative ophthalmology & visual science. 60, 9, p. 2814 1 p.

    Research output: Contribution to journalMeeting Abstract

  7. Published

    Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

    Genomic Ascertainment Cohort, 1 May 2019, In : PLoS Genetics. 15, 5, p. e1008130

    Research output: Contribution to journalArticle

  8. Published

    IDENTIFICATION OF THE MAJOR GENETIC CONTRIBUTORS TO TETRALOGY OF FALLOT

    Page, D. J., Miossec, M. J., Williams, S. G., Monaghan, R. M., Fotiou, E., Cordell, H. J., Sutcliffe, L., Topf, A., Bourgey, M., Bourque, G., Eveleigh, R., Dunwoodie, S. L., Winlaw, D. S., Bhattacharya, S., Breckpot, J., Devriendt, K., Gewillig, M., Brook, D., Setchfield, K., Bu'Lock, F. A. & 14 others, O'Sullivan, J., Stuart, G., Bezzina, C., Mulder, B. J. M., Postma, A. V., Bentham, J. R., Baron, M., Bhaskar, S. S., Black, G. C., Newman, W. G., Hentges, K. E., Lathrop, M., Santibanez-Koref, M. & Keavney, B. D., May 2019, In : Heart. 105, p. A182-A183

    Research output: Contribution to journalMeeting Abstract

  9. Published

    Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

    Page, D. J., Miossec, M. J., Williams, S. G., Monaghan, R. M., Fotiou, E., Cordell, H. J., Sutcliffe, L., Topf, A., Bourgey, M., Bourque, G., Eveleigh, R., Dunwoodie, S. L., Winlaw, D. S., Bhattacharya, S., Breckpot, J., Devriendt, K., Gewillig, M., Brook, J. D., Setchfield, K. J., Bu'Lock, F. A. & 14 others, O'Sullivan, J., Stuart, G., Bezzina, C. R., Mulder, B. J. M., Postma, A. V., Bentham, J. R., Baron, M., Bhaskar, S. S., Black, G. C., Newman, W. G., Hentges, K. E., Lathrop, G. M., Santibanez-Koref, M. & Keavney, B. D., 15 Feb 2019, In : Circulation research. 124, 4, p. 553-563 11 p.

    Research output: Contribution to journalArticle

  10. Published

    GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

    Taylor, R. L. & Black, G., 1 Jan 2019, In : Human Molecular Genetics. 28, 1, p. 96-104 8 p.

    Research output: Contribution to journalArticle

  11. Published

    Germline selection shapes human mitochondrial DNA diversity

    NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot & Daniels, M. J., 2019, In : Science (New York, N.Y.). 364, 6442

    Research output: Contribution to journalArticle

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