Prof Graeme Black

Professor of Genetics and Ophthalmology

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Publications

  1. 2021
  2. Accepted/In press

    High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency

    Ellingford, J., Telford, N., Urquhart, J., Will, A. M., Bonney, D., Adams, B., Dixon, R., Kerr, B., Black, G., Wynn, R. F. & Meyer, S., 6 Apr 2021, (Accepted/In press) In: Cancer Genetics.

    Research output: Contribution to journalArticlepeer-review

  3. Published

    Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission

    Ellingford, J. M., George, R., Mcdermott, J. H., Ahmad, S., Edgerley, J. J., Gokhale, D., Newman, W. G., Ball, S., Machin, N. & Black, G. C., 17 Mar 2021, In: eLife. 10, e65453.

    Research output: Contribution to journalArticlepeer-review

  4. Published

    North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants

    Green, D. J., Lenassi, E., Manning, C. S., McGaughey, D., Sharma, V., Black, G. C., Ellingford, J. M. & Sergouniotis, P. I., 8 Mar 2021, medRxiv, 36 p.

    Research output: Working paper

  5. 2020
  6. Published

    New variants and in silico analyses in GRK1 associated Oguchi disease

    Poulter, J. A., Gravett, M., Taylor, R. L., Fujinami, K., Zaeytijd, J. D., Bellingham, J., Rehman, A. U., Hayashi, T., Kondo, M., Rehman, A., Ansar, M., Donnelly, D., Toomes, C., Ali, M., De Baere, E., Leroy, B. P., Davies, N., Henderson, R., Webster, A. R., Rivolta, C. & 7 others, Mahroo, O. A., Arno, G., Black, G., McKibbin, M., Harris, S., Khan, K. N. & Inglehearn, C. F., 30 Nov 2020, In: Human Mutation.

    Research output: Contribution to journalArticlepeer-review

  7. Published

    Small molecules restore the function of mutant CLC5 associated with Dent disease

    Liu, J., Sadeh, T. T., Lippiat, J. D., Thakker, R. V., Black, G. C. & Manson, F., 16 Nov 2020, In: Journal of cellular and molecular medicine. 25, 2, p. 1319-1322

    Research output: Contribution to journalArticlepeer-review

  8. Accepted/In press

    Global prevalence of Congenital Heart Disease in school-age children: a meta-analysis and systematic review

    Liu, Y., Chen, S., Zuhlke, L., Babu-Narayan, S. V., Black, G., Choy, M-K., Li, N. & Keavney, B., 10 Nov 2020, (Accepted/In press) In: B M C Cardiovascular Disorders.

    Research output: Contribution to journalArticlepeer-review

  9. Published

    Clinical and genetic findings in CTNNA1-associated macular pattern dystrophy

    Tanner, A., Wuen Chan, H., Pulido, J. S., arno, G., Ba-Abbad, R., Arno, G., Jurkute, N., Robson, A., Egan, C., Knight, H., Calcagni, A., Taylor, R. L., Lenassi, E., Black, G., Moore, A. T., Michaelides, M., Webster, A. R. & Mahroo, O. A., 30 Oct 2020, In: Ophthalmology.

    Research output: Contribution to journalArticlepeer-review

  10. Published

    Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders

    Cinnirella, G., Taylor, R. L., Coco, C., Piludu, F., Vidiri, A., Sinibaldi, L., Kornak, U., Black, G. & Brancati, F., 1 Oct 2020, In: Clinical Genetics. 98, 4, p. 413-415 3 p.

    Research output: Contribution to journalLetterpeer-review

  11. Published

    A Non-Adaptive Combinatorial Group Testing Strategy to Facilitate Healthcare Worker Screening During the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak

    McDermott, J. H., Stoddard, D., Woolf, P., Ellingford, J. M., Gokhale, D., Taylor, A., Demain, L. AM., Newman, W. G. & Black, G., 30 Jul 2020, In: medRxiv.

    Research output: Contribution to journalArticlepeer-review

  12. Published

    Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium.

    Liu, J., Taylor, R. L., Baines, R., Swanton, E., Freeman, S., Corneo, B., Patel, A., Marmorstein, A., Knudson, T., Black, G. & Manson, F., 18 May 2020, In: Investigative ophthalmology & visual science. 61, 5, 28.

    Research output: Contribution to journalArticlepeer-review

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