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Year Number of Results
2014 1
2015 2
2016 8
2017 12
2018 12
2019 18
2020 26
2021 21
2022 20
2023 10

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Page 1
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.
Sazonovs A, Stevens CR, Venkataraman GR, Yuan K, Avila B, Abreu MT, Ahmad T, Allez M, Ananthakrishnan AN, Atzmon G, Baras A, Barrett JC, Barzilai N, Beaugerie L, Beecham A, Bernstein CN, Bitton A, Bokemeyer B, Chan A, Chung D, Cleynen I, Cosnes J, Cutler DJ, Daly A, Damas OM, Datta LW, Dawany N, Devoto M, Dodge S, Ellinghaus E, Fachal L, Farkkila M, Faubion W, Ferreira M, Franchimont D, Gabriel SB, Ge T, Georges M, Gettler K, Giri M, Glaser B, Goerg S, Goyette P, Graham D, Hämäläinen E, Haritunians T, Heap GA, Hiltunen M, Hoeppner M, Horowitz JE, Irving P, Iyer V, Jalas C, Kelsen J, Khalili H, Kirschner BS, Kontula K, Koskela JT, Kugathasan S, Kupcinskas J, Lamb CA, Laudes M, Lévesque C, Levine AP, Lewis JD, Liefferinckx C, Loescher BS, Louis E, Mansfield J, May S, McCauley JL, Mengesha E, Mni M, Moayyedi P, Moran CJ, Newberry RD, O'Charoen S, Okou DT, Oldenburg B, Ostrer H, Palotie A, Paquette J, Pekow J, Peter I, Pierik MJ, Ponsioen CY, Pontikos N, Prescott N, Pulver AE, Rahmouni S, Rice DL, Saavalainen P, Sands B, Sartor RB, Schiff ER, Schreiber S, Schumm LP, Segal AW, Seksik P, Shawky R, Sheikh SZ, Silverberg MS, Simmons A, Skeiceviciene J, Sokol H, Solomonson M, Somine… See abstract for full author list ➔ Sazonovs A, et al. Among authors: pontikos n. Nat Genet. 2022 Sep;54(9):1275-1283. doi: 10.1038/s41588-022-01156-2. Epub 2022 Aug 29. Nat Genet. 2022. PMID: 36038634 Free PMC article.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: pontikos n. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I. Rio-Machin A, et al. Among authors: pontikos n. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
Pheno4J: a gene to phenotype graph database.
Mughal S, Moghul I, Yu J; UKIRDC; Clark T, Gregory DS, Pontikos N. Mughal S, et al. Among authors: pontikos n. Bioinformatics. 2017 Oct 15;33(20):3317-3319. doi: 10.1093/bioinformatics/btx397. Bioinformatics. 2017. PMID: 28633344
Phenotype-aware prioritisation of rare Mendelian disease variants.
Kelly C, Szabo A, Pontikos N, Arno G, Robinson PN, Jacobsen JOB, Smedley D, Cipriani V. Kelly C, et al. Among authors: pontikos n. Trends Genet. 2022 Dec;38(12):1271-1283. doi: 10.1016/j.tig.2022.07.002. Epub 2022 Aug 4. Trends Genet. 2022. PMID: 35934592 Free PMC article. Review.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ; UKIRDC; Plagnol V. Pontikos N, et al. Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147. Bioinformatics. 2017. PMID: 28334266
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: pontikos n. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review.
Maile H, Li JO, Gore D, Leucci M, Mulholland P, Hau S, Szabo A, Moghul I, Balaskas K, Fujinami K, Hysi P, Davidson A, Liskova P, Hardcastle A, Tuft S, Pontikos N. Maile H, et al. Among authors: pontikos n. JMIR Med Inform. 2021 Dec 13;9(12):e27363. doi: 10.2196/27363. JMIR Med Inform. 2021. PMID: 34898463 Free PMC article. Review.
Deep Phenotyping of PDE6C-Associated Achromatopsia.
Georgiou M, Robson AG, Singh N, Pontikos N, Kane T, Hirji N, Ripamonti C, Rotsos T, Dubra A, Kalitzeos A, Webster AR, Carroll J, Michaelides M. Georgiou M, et al. Among authors: pontikos n. Invest Ophthalmol Vis Sci. 2019 Dec 2;60(15):5112-5123. doi: 10.1167/iovs.19-27761. Invest Ophthalmol Vis Sci. 2019. PMID: 31826238 Free PMC article.
109 results