Nikolas Pontikos
Nikolas Pontikos
Principal Investigator at UCL
Verified email at - Homepage
Cited by
Cited by
The universal protein resource (UniProt)
UP Consortium
Nucleic acids research 36 (suppl_1), D190-D195, 2007
Reorganizing the protein space at the Universal Protein Resource (UniProt)
UniProt Consortium
Nucleic acids research 40 (D1), D71-D75, 2012
Ongoing and future developments at the Universal Protein Resource
UniProt Consortium
Nucleic acids research 39 (suppl_1), D214-D219, 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
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
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
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), 20686, 2016
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
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
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
Code-free deep learning for multi-modality medical image classification
E Korot, Z Guan, D Ferraz, SK Wagner, G Zhang, X Liu, L Faes, ...
Nature Machine Intelligence 3 (4), 288-298, 2021
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), 10.1128/mbio. 01237-17, 2017
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
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), 1044, 2020
Predicting sex from retinal fundus photographs using automated deep learning
E Korot, N Pontikos, X Liu, SK Wagner, L Faes, J Huemer, K Balaskas, ...
Scientific reports 11 (1), 10286, 2021
The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
SR De Silva, G Arno, AG Robson, A Fakin, N Pontikos, MD Mohamed, ...
Progress in Retinal and Eye Research 82, 100898, 2021
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 Noskova, N Pontikos, ...
The American Journal of Human Genetics 98 (1), 75-89, 2016
Structural variants create new topological-associated domains and ectopic retinal enhancer-gene contact in dominant retinitis pigmentosa
SE de Bruijn, A Fiorentino, D Ottaviani, S Fanucchi, US Melo, ...
The American Journal of Human Genetics 107 (5), 802-814, 2020
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
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
The system can't perform the operation now. Try again later.
Articles 1–20