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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
1980 1
1981 2
1984 2
1986 2
1987 1
1988 2
1989 1
1990 1
1991 2
1992 3
1993 6
1994 3
1995 5
1996 5
1997 2
1998 3
1999 4
2000 10
2001 4
2002 4
2003 4
2004 4
2005 7
2006 3
2007 6
2008 2
2009 3
2010 6
2011 7
2012 5
2013 5
2014 6
2015 8
2016 5
2017 6
2018 4
2019 10
2020 4
2021 6
2022 5
2023 2
2024 2

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163 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: gorin mb. 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.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: gorin mb. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Systems genomics in age-related macular degeneration.
den Hollander AI, Mullins RF, Orozco LD, Voigt AP, Chen HH, Strunz T, Grassmann F, Haines JL, Kuiper JJW, Tumminia SJ, Allikmets R, Hageman GS, Stambolian D, Klaver CCW, Boeke JD, Chen H, Honigberg L, Katti S, Frazer KA, Weber BHF, Gorin MB. den Hollander AI, et al. Among authors: gorin mb. Exp Eye Res. 2022 Dec;225:109248. doi: 10.1016/j.exer.2022.109248. Epub 2022 Sep 13. Exp Eye Res. 2022. PMID: 36108770 Free PMC article.
Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease.
Daniels AB, Chang EY, Chew EY, Gombos DS, Gorin MB, Shields CL, Wiley HE. Daniels AB, et al. Among authors: gorin mb. Ophthalmology. 2023 Dec 12:S0161-6420(23)00895-3. doi: 10.1016/j.ophtha.2023.12.014. Online ahead of print. Ophthalmology. 2023. PMID: 38092079 Review.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: gorin mb. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE.
Wiley HE, Krivosic V, Gaudric A, Gorin MB, Shields C, Shields J, Aronow ME, Chew EY. Wiley HE, et al. Among authors: gorin mb. Retina. 2019 Dec;39(12):2254-2263. doi: 10.1097/IAE.0000000000002572. Retina. 2019. PMID: 31259811 Free PMC article. Review.
Gender specific issues in hereditary ocular disorders.
Iragavarapu S, Gorin MB. Iragavarapu S, et al. Among authors: gorin mb. Curr Eye Res. 2015 Feb;40(2):128-45. doi: 10.3109/02713683.2014.932813. Epub 2014 Jul 14. Curr Eye Res. 2015. PMID: 25019185 Review.
VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects.
Aronow ME, Wiley HE, Gaudric A, Krivosic V, Gorin MB, Shields CL, Shields JA, Jonasch EW, Singh AD, Chew EY. Aronow ME, et al. Among authors: gorin mb. Retina. 2019 Dec;39(12):2243-2253. doi: 10.1097/IAE.0000000000002555. Retina. 2019. PMID: 31095066 Review.
163 results