| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 650 | 2017 |
| The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 368 | 2017 |
| Elucidation of the RamA Regulon in Klebsiella pneumoniae Reveals a Role in LPS Regulation S De Majumdar, J Yu, M Fookes, SP McAteer, E Llobet, S Finn, S Spence, ... PLoS pathogens 11 (1), e1004627, 2015 | 164 | 2015 |
| Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ... The American Journal of Human Genetics 99 (6), 1305-1315, 2016 | 138 | 2016 |
| Unravelling the genetics of inherited retinal dystrophies: Past, present and future S Broadgate, J Yu, SM Downes, S Halford Progress in retinal and eye research 59, 53-96, 2017 | 126 | 2017 |
| Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, ... The American Journal of Human Genetics 100 (4), 592-604, 2017 | 74 | 2017 |
| An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story S Al-Khuzaei, S Broadgate, CR Foster, M Shah, J Yu, SM Downes, ... Genes 12 (8), 1241, 2021 | 47 | 2021 |
| Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data N Pontikos, J Yu, I Moghul, L Withington, F Blanco-Kelly, T Vulliamy, ... Bioinformatics 33 (15), 2421-2423, 2017 | 47 | 2017 |
| Tigecycline challenge triggers sRNA production in Salmonella enterica serovar Typhimurium J Yu, T Schneiders BMC microbiology 12, 1-13, 2012 | 39 | 2012 |
| The genetic landscape of crystallins in congenital cataract V Berry, A Ionides, N Pontikos, M Georgiou, J Yu, LA Ocaka, AT Moore, ... Orphanet journal of rare diseases 15, 1-17, 2020 | 35 | 2020 |
| Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration G Arno, KJ Carss, S Hull, C Zihni, AG Robson, A Fiorentino, G Black, ... The American Journal of Human Genetics 100 (2), 334-342, 2017 | 31 | 2017 |
| Loss-of-function mutations in the CFH gene affecting alternatively encoded factor H-like 1 protein cause dominant early-onset macular drusen RL Taylor, JA Poulter, SM Downes, M McKibbin, KN Khan, CF Inglehearn, ... Ophthalmology 126 (10), 1410-1421, 2019 | 27 | 2019 |
| Genome sequence of Klebsiella pneumoniae Ecl8, a reference strain for targeted genetic manipulation M Fookes, J Yu, S De Majumdar, N Thomson, T Schneiders Genome announcements 1 (1), 10.1128/genomea. 00027-12, 2013 | 25 | 2013 |
| Ring structure of the Escherichia coli DNA-binding protein RdgC associated with recombination and replication fork repair GS Briggs, PA McEwan, J Yu, T Moore, J Emsley, RG Lloyd Journal of Biological Chemistry 282 (17), 12353-12357, 2007 | 24 | 2007 |
| Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases AT Pagnamenta, C Camps, E Giacopuzzi, JM Taylor, M Hashim, ... Genome medicine 15 (1), 94, 2023 | 19 | 2023 |
| Association of clinical and genetic heterogeneity with BEST1 sequence variations M Shah, S Broadgate, M Shanks, P Clouston, J Yu, RE MacLaren, ... JAMA ophthalmology 138 (5), 544-551, 2020 | 18 | 2020 |
| Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa A Fiorentino, J Yu, G Arno, N Pontikos, S Halford, S Broadgate, ... Molecular Vision 24, 603, 2018 | 15 | 2018 |
| Pheno4J: a gene to phenotype graph database S Mughal, I Moghul, J Yu, T Clark, DS Gregory, N Pontikos Bioinformatics 33 (20), 3317-3319, 2017 | 15 | 2017 |
| Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene S Yahya, CEL Smith, JA Poulter, M McKibbin, G Arno, J Ellingford, ... Ophthalmology 130 (1), 68-76, 2023 | 11 | 2023 |
| The RdgC protein employs a novel mechanism involving a finger domain to bind to circular DNA GS Briggs, J Yu, AA Mahdi, RG Lloyd Nucleic acids research 38 (19), 6433-6446, 2010 | 11 | 2010 |
