| The universal protein resource (UniProt) UP Consortium Nucleic acids research 36 (suppl_1), D190-D195, 2007 | 1552 | 2007 |
| Reorganizing the protein space at the Universal Protein Resource (UniProt) UniProt Consortium Nucleic acids research 40 (D1), D71-D75, 2012 | 1373 | 2012 |
| Ongoing and future developments at the Universal Protein Resource UniProt Consortium Nucleic acids research 39 (suppl_1), D214-D219, 2010 | 782 | 2010 |
| 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 | 668 | 2017 |
| Standardizing flow cytometry immunophenotyping analysis from the human immunophenotyping consortium G Finak, M Langweiler, M Jaimes, M Malek, J Taghiyar, Y Korin, ... Scientific reports 6 (1), 1-11, 2016 | 226 | 2016 |
| Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease KY Hui, H Fernandez-Hernandez, J Hu, A Schaffner, N Pankratz, NY Hsu, ... Science translational medicine 10 (423), eaai7795, 2018 | 223 | 2018 |
| Automated deep learning design for medical image classification by health-care professionals with no coding experience: a feasibility study L Faes, SK Wagner, DJ Fu, X Liu, E Korot, JR Ledsam, T Back, R Chopra, ... The Lancet Digital Health 1 (5), e232-e242, 2019 | 129 | 2019 |
| 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 | 101 | 2016 |
| The human salivary microbiome is shaped by shared environment rather than genetics: evidence from a large family of closely related individuals L Shaw, ALR Ribeiro, AP Levine, N Pontikos, F Balloux, AW Segal, ... MBio 8 (5), e01237-17, 2017 | 80 | 2017 |
| Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom N Pontikos, G Arno, N Jurkute, E Schiff, R Ba-Abbad, S Malka, A Gimenez, ... Ophthalmology 127 (10), 1384-1394, 2020 | 66 | 2020 |
| Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 AE Davidson, P Liskova, CJ Evans, L Dudakova, L Nosková, N Pontikos, ... The American Journal of Human Genetics 98 (1), 75-89, 2016 | 64 | 2016 |
| Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population MA Rivas, BE Avila, J Koskela, H Huang, C Stevens, M Pirinen, ... PLoS genetics 14 (5), e1007329, 2018 | 62 | 2018 |
| Dissection of a complex disease susceptibility region using a Bayesian stochastic search approach to fine mapping C Wallace, AJ Cutler, N Pontikos, ML Pekalski, OS Burren, JD Cooper, ... PLoS genetics 11 (6), e1005272, 2015 | 55 | 2015 |
| Genetic complexity of Crohn’s disease in two large Ashkenazi Jewish families AP Levine, N Pontikos, ER Schiff, L Jostins, D Speed, LB Lovat, JC Barrett, ... Gastroenterology 151 (4), 698-709, 2016 | 54 | 2016 |
| 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 | 50 | 2017 |
| A frameshift in CSF2RB predominant among Ashkenazi jews increases risk for Crohn's disease and reduces monocyte signaling via GM-CSF LS Chuang, N Villaverde, KY Hui, A Mortha, A Rahman, AP Levine, ... Gastroenterology 151 (4), 710-723. e2, 2016 | 49 | 2016 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 46 | 2021 |
| The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants A Rio-Machin, T Vulliamy, N Hug, A Walne, K Tawana, S Cardoso, ... Nature communications 11 (1), 1-12, 2020 | 40 | 2020 |
| 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 | 37 | 2017 |
| Association of steroid 5α-reductase type 3 congenital disorder of glycosylation with early-onset retinal dystrophy RL Taylor, G Arno, JA Poulter, KN Khan, J Morarji, S Hull, N Pontikos, ... JAMA ophthalmology 135 (4), 339-347, 2017 | 37 | 2017 |
Gavin ArnoUCL Institute of OphthalmologyVerified email at ucl.ac.uk
