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Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
Neale BM, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, Tan PL, Oh EC, Merriam JE, Souied E, Bernstein PS, Li B, Frederick JM, Zhang K, Brantley MA Jr, Lee AY, Zack DJ, Campochiaro B, Campochiaro P, Ripke S, Smith RT, Barile GR, Katsanis N, Allikmets R, Daly MJ, Seddon JM. Neale BM, et al. Among authors: oh ec. Proc Natl Acad Sci U S A. 2010 Apr 20;107(16):7395-400. doi: 10.1073/pnas.0912019107. Epub 2010 Apr 12. Proc Natl Acad Sci U S A. 2010. PMID: 20385826 Free PMC article.
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA, Liu Y, Gerdes JM, Gascue C, Oh EC, Leitch CC, Bromberg Y, Binkley J, Leibel RL, Sidow A, Badano JL, Katsanis N. Zaghloul NA, et al. Among authors: oh ec. Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10602-7. doi: 10.1073/pnas.1000219107. Epub 2010 May 24. Proc Natl Acad Sci U S A. 2010. PMID: 20498079 Free PMC article.
Cilia in vertebrate development and disease.
Oh EC, Katsanis N. Oh EC, et al. Development. 2012 Feb;139(3):443-8. doi: 10.1242/dev.050054. Development. 2012. PMID: 22223675 Free PMC article. Review.
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.
Carnes MU, Liu YP, Allingham RR, Whigham BT, Havens S, Garrett ME, Qiao C; NEIGHBORHOOD Consortium Investigators; Katsanis N, Wiggs JL, Pasquale LR, Ashley-Koch A, Oh EC, Hauser MA. Carnes MU, et al. Among authors: oh ec. PLoS Genet. 2014 May 29;10(5):e1004372. doi: 10.1371/journal.pgen.1004372. eCollection 2014. PLoS Genet. 2014. PMID: 24875647 Free PMC article.
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Nishiguchi KM, et al. Among authors: oh ec. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043777 Free PMC article.
Neuroscience: Imprinting in the brain.
Oh EC, Katsanis N. Oh EC, et al. Nature. 2011 Jul 20;475(7356):299-300. doi: 10.1038/475299a. Nature. 2011. PMID: 21776070 Free PMC article.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium; van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A. Migliavacca E, et al. Among authors: oh ec. Am J Hum Genet. 2015 May 7;96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30. Am J Hum Genet. 2015. PMID: 25937446 Free PMC article.
Gene expression elucidates functional impact of polygenic risk for schizophrenia.
Fromer M, Roussos P, Sieberts SK, Johnson JS, Kavanagh DH, Perumal TM, Ruderfer DM, Oh EC, Topol A, Shah HR, Klei LL, Kramer R, Pinto D, Gümüş ZH, Cicek AE, Dang KK, Browne A, Lu C, Xie L, Readhead B, Stahl EA, Xiao J, Parvizi M, Hamamsy T, Fullard JF, Wang YC, Mahajan MC, Derry JM, Dudley JT, Hemby SE, Logsdon BA, Talbot K, Raj T, Bennett DA, De Jager PL, Zhu J, Zhang B, Sullivan PF, Chess A, Purcell SM, Shinobu LA, Mangravite LM, Toyoshiba H, Gur RE, Hahn CG, Lewis DA, Haroutunian V, Peters MA, Lipska BK, Buxbaum JD, Schadt EE, Hirai K, Roeder K, Brennand KJ, Katsanis N, Domenici E, Devlin B, Sklar P. Fromer M, et al. Among authors: oh ec. Nat Neurosci. 2016 Nov;19(11):1442-1453. doi: 10.1038/nn.4399. Epub 2016 Sep 26. Nat Neurosci. 2016. PMID: 27668389 Free PMC article.
49 results