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Genome-wide analyses identify common variants associated with macular telangiectasia type 2.
Scerri TS, Quaglieri A, Cai C, Zernant J, Matsunami N, Baird L, Scheppke L, Bonelli R, Yannuzzi LA, Friedlander M; MacTel Project Consortium; Egan CA, Fruttiger M, Leppert M, Allikmets R, Bahlo M. Scerri TS, et al. Among authors: allikmets r. Nat Genet. 2017 Apr;49(4):559-567. doi: 10.1038/ng.3799. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250457 Free article.
Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
Bonelli R, Jackson VE, Prasad A, Munro JE, Farashi S, Heeren TFC, Pontikos N, Scheppke L, Friedlander M; MacTel Consortium; Egan CA, Allikmets R, Ansell BRE, Bahlo M. Bonelli R, et al. Among authors: allikmets r. Commun Biol. 2021 Apr 9;4(1):473. doi: 10.1038/s42003-021-01972-y. Commun Biol. 2021. PMID: 33837246 Free PMC article. No abstract available.
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, Bonelli R, Giles S, Harkins-Perry S, Heeren TFC, Sauer L, Ideguchi Y, Baldini M, Scheppke L, Dorrell MI, Kitano M, Hart BJ, Cai C, Nagasaki T, Badur MG, Okada M, Woods SM, Egan C, Gillies M, Guymer R, Eichler F, Bahlo M, Fruttiger M, Allikmets R, Bernstein PS, Metallo CM, Friedlander M. Gantner ML, et al. Among authors: allikmets r. N Engl J Med. 2019 Oct 10;381(15):1422-1433. doi: 10.1056/NEJMoa1815111. Epub 2019 Sep 11. N Engl J Med. 2019. PMID: 31509666 Free PMC article.
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.
Eade K, Gantner ML, Hostyk JA, Nagasaki T, Giles S, Fallon R, Harkins-Perry S, Baldini M, Lim EW, Scheppke L, Dorrell MI, Cai C, Baugh EH, Wolock CJ, Wallace M, Berlow RB, Goldstein DB, Metallo CM, Friedlander M, Allikmets R. Eade K, et al. Among authors: allikmets r. Nat Metab. 2021 Mar;3(3):366-377. doi: 10.1038/s42255-021-00361-3. Epub 2021 Mar 22. Nat Metab. 2021. PMID: 33758422 Free PMC article.
Analysis of candidate genes for macular telangiectasia type 2.
Parmalee NL, Schubert C, Merriam JE, Allikmets K, Bird AC, Gillies MC, Peto T, Figueroa M, Friedlander M, Fruttiger M, Greenwood J, Moss SE, Smith LE, Toomes C, Inglehearn CF, Allikmets R. Parmalee NL, et al. Among authors: allikmets r, allikmets k. Mol Vis. 2010 Dec 14;16:2718-26. Mol Vis. 2010. PMID: 21179236 Free PMC article.
Identification of a potential susceptibility locus for macular telangiectasia type 2.
Parmalee NL, Schubert C, Figueroa M, Bird AC, Peto T, Gillies MC, Bernstein PS, Kiryluk K, Terwilliger JD, Allikmets R; MacTel Project. Parmalee NL, et al. Among authors: allikmets r. PLoS One. 2012;7(8):e24268. doi: 10.1371/journal.pone.0024268. Epub 2012 Aug 31. PLoS One. 2012. PMID: 22952568 Free PMC article.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium; Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF. Xu M, et al. Among authors: allikmets r. Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9. Am J Hum Genet. 2017. PMID: 28285769 Free PMC article.
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC,… See abstract for full author list ➔ Fritsche LG, et al. Among authors: allikmets r. Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691988 Free PMC article.
257 results