Gene expression elucidates functional impact of polygenic risk for schizophrenia M Fromer, P Roussos, SK Sieberts, JS Johnson, DH Kavanagh, ... Nature neuroscience 19 (11), 1442-1453, 2016 | 1155 | 2016 |
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) BM Neale, J Fagerness, R Reynolds, L Sobrin, M Parker, S Raychaudhuri, ... Proceedings of the National Academy of Sciences 107 (16), 7395-7400, 2010 | 518 | 2010 |
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant C Golzio, J Willer, ME Talkowski, EC Oh, Y Taniguchi, S Jacquemont, ... Nature 485 (7398), 363-367, 2012 | 487 | 2012 |
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights A Gusev, N Mancuso, H Won, M Kousi, HK Finucane, Y Reshef, L Song, ... Nature genetics 50 (4), 538-548, 2018 | 476 | 2018 |
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis SK Kim, A Shindo, TJ Park, EC Oh, S Ghosh, RS Gray, RA Lewis, ... Science 329 (5997), 1337-1340, 2010 | 405 | 2010 |
Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors M Akimoto, H Cheng, D Zhu, JA Brzezinski, R Khanna, E Filippova, ... Proceedings of the National Academy of Sciences 103 (10), 3890-3895, 2006 | 386 | 2006 |
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors H Cheng, H Khanna, ECT Oh, D Hicks, KP Mitton, A Swaroop Human molecular genetics 13 (15), 1563-1575, 2004 | 298 | 2004 |
Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry S Kim, NA Zaghloul, E Bubenshchikova, EC Oh, S Rankin, N Katsanis, ... Nature cell biology 13 (4), 351-360, 2011 | 260 | 2011 |
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex K Ishizuka, A Kamiya, EC Oh, H Kanki, S Seshadri, JF Robinson, ... Nature 473 (7345), 92-96, 2011 | 244 | 2011 |
Cilia in vertebrate development and disease EC Oh, N Katsanis Development 139 (3), 443-448, 2012 | 197 | 2012 |
Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL ECT Oh, N Khan, E Novelli, H Khanna, E Strettoi, A Swaroop Proceedings of the National Academy of Sciences 104 (5), 1679-1684, 2007 | 194 | 2007 |
Expression profiling of the developing and mature Nrl −/− mouse retina: identification of retinal disease candidates and transcriptional regulatory … S Yoshida, AJ Mears, JS Friedman, T Carter, S He, E Oh, Y Jing, R Farjo, ... Human molecular genetics 13 (14), 1487-1503, 2004 | 193 | 2004 |
Loss of δ-catenin function in severe autism TN Turner, K Sharma, EC Oh, YP Liu, RL Collins, MX Sosa, DR Auer, ... Nature 520 (7545), 51-56, 2015 | 181 | 2015 |
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy SA Riazuddin, DS Parker, EJ McGlumphy, EC Oh, BW Iliff, T Schmedt, ... The American Journal of Human Genetics 90 (3), 533-539, 2012 | 173 | 2012 |
Retinoid-related orphan nuclear receptor RORβ is an early-acting factor in rod photoreceptor development L Jia, ECT Oh, L Ng, M Srinivas, M Brooks, A Swaroop, D Forrest Proceedings of the National Academy of Sciences 106 (41), 17534-17539, 2009 | 157 | 2009 |
Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors ECT Oh, H Cheng, H Hao, L Jia, NW Khan, A Swaroop Brain research 1236, 16-29, 2008 | 148 | 2008 |
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene KM Nishiguchi, RG Tearle, YP Liu, EC Oh, N Miyake, P Benaglio, ... Proceedings of the National Academy of Sciences 110 (40), 16139-16144, 2013 | 142 | 2013 |
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome NA Zaghloul, Y Liu, JM Gerdes, C Gascue, EC Oh, CC Leitch, Y Bromberg, ... Proceedings of the National Academy of Sciences 107 (23), 10602-10607, 2010 | 141 | 2010 |
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome JHM Schuurs-Hoeijmakers, EC Oh, LELM Vissers, MEM Swinkels, ... The American Journal of Human Genetics 91 (6), 1122-1127, 2012 | 134 | 2012 |
Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling CJ Wiens, Y Tong, MA Esmail, E Oh, JM Gerdes, J Wang, W Tempel, ... Journal of Biological Chemistry 285 (21), 16218-16230, 2010 | 125 | 2010 |