Nikolas Pontikos
Nikolas Pontikos
Principal Investigator at UCL
Verified email at ucl.ac.uk - Homepage
Title
Cited by
Cited by
Year
The universal protein resource (UniProt)
UP Consortium
Nucleic acids research 36 (suppl_1), D190-D195, 2007
14042007
Reorganizing the protein space at the Universal Protein Resource (UniProt)
UniProt Consortium
Nucleic acids research 40 (D1), D71-D75, 2012
12892012
Ongoing and future developments at the Universal Protein Resource
UniProt Consortium
Nucleic acids research 39 (suppl_1), D214-D219, 2010
7442010
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
5692017
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
1882016
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), 2018
1662018
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
832016
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
702019
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
562017
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
512016
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
492018
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
482015
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
452016
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
412017
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
392020
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
392016
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
322017
Mutations in CPAMD8 cause a unique form of autosomal-recessive anterior segment dysgenesis
SS Cheong, L Hentschel, AE Davidson, D Gerrelli, R Davie, R Rizzo, ...
The American Journal of Human Genetics 99 (6), 1338-1352, 2016
312016
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
302017
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
P Liskova, L Dudakova, CJ Evans, KER Lopez, N Pontikos, D Athanasiou, ...
The American Journal of Human Genetics 102 (3), 447-459, 2018
242018
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