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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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