Items where authors include "Michaelides, M"

Article

de Bruijn, SE, Fiorentino, A, Ottaviani, D et al. (34 more authors) (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. The American Journal of Human Genetics, 107 (5). pp. 802-814. ISSN 0002-9297

Taylor, RL, Poulter, JA orcid.org/0000-0003-2048-5693, Downes, SM et al. (10 more authors) (2019) Loss-of-function mutations in the CFH gene affecting alternatively encoded Factor H-like 1 protein cause dominant early-onset macular drusen. Ophthalmology, 126 (10). pp. 1410-1421. ISSN 0161-6420

Wei, W, Tuna, S, Keogh, MJ et al. (426 more authors) (2019) Germline selection shapes human mitochondrial DNA diversity. Science, 364 (6442). 749-+. ISSN 0036-8075

Fiorentino, A, Yu, J, Arno, G et al. (28 more authors) (2018) Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision, 24. pp. 603-612. ISSN 1090-0535

Whitworth, J, Smith, PS, Martin, J-E et al. (330 more authors) (2018) Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes. The American Journal of Human Genetics, 103 (1). pp. 3-18. ISSN 0002-9297

Khan, KN, Robson, A, Mahroo, OAR et al. (13 more authors) (2018) A clinical and molecular characterisation of CRB1-associated maculopathy. European Journal of Human Genetics, 26. pp. 687-694. ISSN 1018-4813

Hirji, N, Bradley, PD, Li, S et al. (10 more authors) (2018) Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. AMERICAN JOURNAL OF OPHTHALMOLOGY, 188. pp. 123-130. ISSN 0002-9394

Khan, KN, Lord, EC orcid.org/0000-0001-9216-7382, Arno, G et al. (10 more authors) (2018) Detailed Retinal Imaging In Carriers Of Ocular Albinism. Retina, 38 (3). pp. 620-628. ISSN 1539-2864

Mughal, S, Moghul, I, Yu, J et al. (28 more authors) (2017) Pheno4J: A gene to phenotype graph database. Bioinformatics, 33 (20). pp. 3317-3319. ISSN 1367-4803

Khan, KN, El-Asrag, ME, Ku, CA et al. (18 more authors) (2017) Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Investigative Ophthalmology and Visual Science, 58 (7). pp. 2906-2914. ISSN 0146-0404

Xu, M, Xie, YA, Abouzeid, H et al. (64 more authors) (2017) Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics, 100 (4). pp. 592-604. ISSN 0002-9297

Taylor, RL, Arno, G, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2017) Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmology, 135 (4). pp. 339-347. ISSN 2168-6165

Carss, KJ, Arno, G, Erwood, M et al. (35 more authors) (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics, 100 (1). pp. 75-90. ISSN 0002-9297

Arno, G, Agrawal, SA, Eblimit, A et al. (27 more authors) (2016) Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. American Journal of Human Genetics, 99 (6). pp. 1305-1315. ISSN 0002-9297

Proceedings Paper

Spanias, C, Aristidou, P orcid.org/0000-0003-4429-0225, Michaelides, M et al. (1 more author) (2018) Power system stability enhancement through the optimal, passivity-based, placement of SVCs. In: 2018 Power Systems Computation Conference (PSCC). PSCC 2018, 11-15 Jun 2018, Dublin, Ireland. IEEE . ISBN 978-1-910963-10-4

van Genderen, MM, Khan, KN, Robson, A et al. (3 more authors) (2018) Clinical and molecular characteristics of CRB1‐associated maculopathy. In: Acta Ophthalmologica. Netherlands Ophthalmological Society (NOG) Annual Congress, 21-23 Mar 2018, Groningen, The Netherlands. Wiley , p. 28.