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Year Number of Results
1985 1
1986 1
1987 3
1988 6
1989 4
1991 2
1992 1
1993 2
1994 3
1995 5
1996 4
1997 7
1998 5
1999 8
2000 4
2001 12
2002 3
2003 5
2004 7
2005 7
2006 6
2007 3
2008 8
2009 10
2010 12
2011 8
2012 9
2013 14
2014 19
2015 16
2016 6
2017 12
2018 15
2019 10
2020 6
2021 11
2022 10
2023 5
2024 5
2025 1

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261 results

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Page 1
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.
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: allikmets r. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
Serine and glycine physiology reversibly modulate retinal and peripheral nerve function.
Lim EW, Fallon RJ, Bates C, Ideguchi Y, Nagasaki T, Handzlik MK, Joulia E, Bonelli R, Green CR, Ansell BRE, Kitano M, Polis I, Roberts AJ, Furuya S, Allikmets R, Wallace M, Friedlander M, Metallo CM, Gantner ML. Lim EW, et al. Among authors: allikmets r. Cell Metab. 2024 Oct 1;36(10):2315-2328.e6. doi: 10.1016/j.cmet.2024.07.021. Epub 2024 Aug 26. Cell Metab. 2024. PMID: 39191258 Free article.
Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.
Gorman BR, Voloudakis G, Igo RP Jr, Kinzy T, Halladay CW, Bigdeli TB, Zeng B, Venkatesh S, Cooke Bailey JN, Crawford DC, Markianos K, Dong F, Schreiner PA, Zhang W; VA Million Veteran Program; International AMD Genomics Consortium (IAMDGC); Hadi T, Anger MD, Stockwell A, Melles RB, Yin J, Choquet H, Kaye R, Patasova K, Patel PJ, Yaspan BL, Jorgenson E, Hysi PG, Lotery AJ, Gaziano JM, Tsao PS, Fliesler SJ, Sullivan JM, Greenberg PB, Wu WC, Assimes TL, Pyarajan S, Roussos P, Peachey NS, Iyengar SK. Gorman BR, et al. Nat Genet. 2024 Dec;56(12):2659-2671. doi: 10.1038/s41588-024-01764-0. Epub 2024 Dec 2. Nat Genet. 2024. PMID: 39623103
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C. Riveiro-Alvarez R, et al. Among authors: allikmets r. Ophthalmology. 2013 Nov;120(11):2332-7. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4. Ophthalmology. 2013. PMID: 23755871 Free PMC article.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: allikmets r. Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. Biomolecules. 2024. PMID: 38540785 Free PMC article.
261 results