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Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium; Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ. Rivas MA, et al. Among authors: pontikos n. PLoS Genet. 2019 May 30;15(5):e1008190. doi: 10.1371/journal.pgen.1008190. eCollection 2019 May. PLoS Genet. 2019. PMID: 31145742 Free PMC article.
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium; Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ. Rivas MA, et al. Among authors: pontikos n. PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May. PLoS Genet. 2018. PMID: 29795570 Free PMC article.
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.
Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM, van Heyningen V, Michaelides M, Webster AR, Moore AT, Puech B. Cipriani V, et al. Among authors: pontikos n. Ophthalmic Genet. 2017 Dec;38(6):511-519. doi: 10.1080/13816810.2017.1289544. Epub 2017 Mar 2. Ophthalmic Genet. 2017. PMID: 28635424 Free article.
CUGC for posterior polymorphous corneal dystrophy (PPCD).
Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P. Davidson AE, et al. Among authors: pontikos n. Eur J Hum Genet. 2020 Jan;28(1):126-131. doi: 10.1038/s41431-019-0448-8. Epub 2019 Jun 14. Eur J Hum Genet. 2020. PMID: 31201376 Free PMC article.
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I. Hui KY, et al. Among authors: pontikos n. Sci Transl Med. 2018 Jan 10;10(423):eaai7795. doi: 10.1126/scitranslmed.aai7795. Sci Transl Med. 2018. PMID: 29321258 Free PMC article.
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ. Cheong SS, et al. Among authors: pontikos n. Am J Hum Genet. 2016 Dec 1;99(6):1338-1352. doi: 10.1016/j.ajhg.2016.09.022. Epub 2016 Nov 10. Am J Hum Genet. 2016. PMID: 27839872 Free PMC article.
143 results