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Copy number variations and primary open-angle glaucoma.
Davis LK, Meyer KJ, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Sheffield VC, Stone EM. Davis LK, et al. Among authors: meyer kj. Invest Ophthalmol Vis Sci. 2011 Sep 9;52(10):7122-33. doi: 10.1167/iovs.10-5606. Print 2011. Invest Ophthalmol Vis Sci. 2011. PMID: 21310917 Free PMC article.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Autism Genome Project Consortium; Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemeijer M, … See abstract for full author list ➔ Autism Genome Project Consortium, et al. Among authors: meyer kj. Nat Genet. 2007 Mar;39(3):319-28. doi: 10.1038/ng1985. Epub 2007 Feb 18. Nat Genet. 2007. PMID: 17322880 Free PMC article.
Pax6 3' deletion results in aniridia, autism and mental retardation.
Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Davis LK, et al. Among authors: meyer kj. Hum Genet. 2008 May;123(4):371-8. doi: 10.1007/s00439-008-0484-x. Epub 2008 Mar 6. Hum Genet. 2008. PMID: 18322702 Free PMC article. Review.
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. Glessner JT, et al. Among authors: meyer kj. Nature. 2009 May 28;459(7246):569-73. doi: 10.1038/nature07953. Epub 2009 Apr 28. Nature. 2009. PMID: 19404257 Free PMC article.
Genome-wide analysis of copy number variants in age-related macular degeneration.
Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, Sheffield VC. Meyer KJ, et al. Hum Genet. 2011 Jan;129(1):91-100. doi: 10.1007/s00439-010-0904-6. Epub 2010 Oct 28. Hum Genet. 2011. PMID: 20981449 Free PMC article.
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.
Hazlewood RJ, Roos BR, Solivan-Timpe F, Honkanen RA, Jampol LM, Gieser SC, Meyer KJ, Mullins RF, Kuehn MH, Scheetz TE, Kwon YH, Alward WL, Stone EM, Fingert JH. Hazlewood RJ, et al. Among authors: meyer kj. Hum Mutat. 2015 Mar;36(3):369-78. doi: 10.1002/humu.22754. Hum Mutat. 2015. PMID: 25581579 Free PMC article.
Update on Animal Models of Exfoliation Syndrome.
Anderson MG, Meyer KJ, Hedberg-Buenz A, Fingert JH. Anderson MG, et al. Among authors: meyer kj. J Glaucoma. 2018 Jul;27 Suppl 1(Suppl 1):S78-S82. doi: 10.1097/IJG.0000000000000911. J Glaucoma. 2018. PMID: 29419647 Free PMC article. Review.
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
van der Heide C, Goar W, Meyer KJ, Alward WLM, Boese EA, Sears NC, Roos BR, Kwon YH, DeLuca AP, Siggs OM, Gonzaga-Jauregui C, Sheffield VC, Wang K, Stone EM, Mullins RF, Anderson MG, Fan BJ, Ritch R, Craig JE, Wiggs JL, Scheetz TE, Fingert JH. van der Heide C, et al. Among authors: meyer kj. BMC Genomics. 2021 Jun 26;22(1):477. doi: 10.1186/s12864-021-07782-0. BMC Genomics. 2021. PMID: 34174832 Free PMC article.
63 results