Dr Panos Sergouniotis

NIHR Academic Clinical Lecturer in Ophthalmology

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Publications

  1. 2020
  2. Published

    Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

    Sallah, S. R., Sergouniotis, P. I., Barton, S., Ramsden, S., Taylor, R. L., Safadi, A., Kabir, M., Ellingford, J. M., Lench, N., Lovell, S. C. & Black, G. C. M., 20 Apr 2020, In : European Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  3. Published

    Variability in gene expression is associated with incomplete penetrance in inherited eye disorders

    Green, D. J., Sallah, S. R., Ellingford, J. M., Lovell, S. C. & Sergouniotis, P. I., 9 Feb 2020, In : Genes. 11, 2, 179.

    Research output: Contribution to journalArticlepeer-review

  4. Published

    A hybrid machine learning approach using LBP descriptor and PCA for age-related macular degeneration classification in OCTA images

    Alfahaid, A., Morris, T., Cootes, T., Keane, P. A., Khalid, H., Pontikos, N., Sergouniotis, P. & Balaskas, K., 2020, Medical Image Understanding and Analysis - 23rd Conference, MIUA 2019, Proceedings. Zheng, Y., Williams, B. M. & Chen, K. (eds.). p. 231-241 12 p. (Communications in Computer and Information Science; vol. 1065 CCIS).

    Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

  5. 2019
  6. 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 journalArticlepeer-review

  7. 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 journalArticlepeer-review

  8. 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 journalArticlepeer-review

  9. Published

    Variability in the ocular phenotype in mucopolysaccharidosis.

    Sornalingam, K., Javed, A., Aslam, T., Sergouniotis, P., Jones, S. A., Ghosh, A. & Ashworth, J., 1 Apr 2019, In : British Journal Of Ophthalmology. 103, 4, p. 504-510 7 p.

    Research output: Contribution to journalArticlepeer-review

  10. Published

    An ontological foundation for ocular phenotypes and rare eye diseases

    ERN-EYE Ontology Study Group, 9 Jan 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 8

    Research output: Contribution to journalArticlepeer-review

  11. Published

    Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J. P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J. P., Conlin, T., Blau, H., Baynam, G., Palmer, R., Gratian, D., Dawkins, H., Segal, M. & 30 others, Jansen, A. C., Muaz, A., Chang, W. H., Bergerson, J., Laulederkind, S. J. F., Yüksel, Z., Beltran, S., Freeman, A. F., Sergouniotis, P. I., Durkin, D., Storm, A. L., Hanauer, M., Brudno, M., Bello, S. M., Sincan, M., Rageth, K., Wheeler, M. T., Oegema, R., Lourghi, H., Della Rocca, M. G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R. C., Hajek, C., Olry, A., Notarangelo, L. & Similuk, M., 8 Jan 2019, In : Nucleic acids research. 47, D1, p. D1018-D1027

    Research output: Contribution to journalArticlepeer-review

  12. Published

    Inherited retinal disorders: using evidence as a driver for implementation

    Sergouniotis, P. I., 2019, In : Ophthalmologica. 242, 4, p. 187-194 8 p.

    Research output: Contribution to journalComment/debatepeer-review

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