Items where authors include "Hardcastle, AJ"

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Number of items: 9.


Yahya, S, Smith, CEL, Poulter, JA et al. (17 more authors) (2023) Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology, 130 (1). pp. 68-76. ISSN 0161-6420

Hardcastle, AJ, Liskova, P, Bykhovskaya, Y et al. (59 more authors) (2021) A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. Communications Biology, 4 (1). 266. ISSN 2399-3642

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, 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

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

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

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 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

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

This list was generated on Sat Mar 25 14:26:10 2023 GMT.