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| Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q C Toomes, HM Bottomley, RM Jackson, KV Towns, S Scott, DA Mackey, ... The American Journal of Human Genetics 74 (4), 721-730, 2004 | 418 | 2004 |
| Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration Z Yang, BV Alvarez, C Chakarova, L Jiang, G Karan, JM Frederick, ... Human molecular genetics 14 (2), 255-265, 2005 | 103 | 2005 |
| Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4) V Berry, Z Yang, PKF Addison, PJ Francis, A Ionides, G Karan, L Jiang, ... Journal of Medical Genetics 41 (8), e109-e109, 2004 | 72 | 2004 |
| Proliferative reactive gliosis is compatible with glial metabolic support and neuronal function FR Vázquez-Chona, A Swan, WD Ferrell, L Jiang, W Baehr, WM Chien, ... BMC neuroscience 12 (1), 98, 2011 | 57 | 2011 |
| Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A) W Baehr, BJ Katz, DJ Creel, K Zhang Molecular vision 11, 143, 2005 | 57 | 2005 |
| Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model L Jiang, H Zhang, AM Dizhoor, SE Boye, WW Hauswirth, JM Frederick, ... Proceedings of the National Academy of Sciences 108 (45), 18476-18481, 2011 | 51 | 2011 |
| A novel GCAP1 (N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy L Jiang, D Wheaton, G Bereta, K Zhang, K Palczewski, DG Birch, W Baehr Vision research 48 (23-24), 2425-2432, 2008 | 44 | 2008 |
| A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy Z Yang, W Lin, DM Moshfeghi, S Thirumalaichary, X Li, L Jiang, H Zhang, ... American journal of ophthalmology 135 (2), 213-218, 2003 | 35 | 2003 |
| GCAP1 mutations associated with autosomal dominant cone dystrophy L Jiang, W Baehr Retinal Degenerative Diseases: Laboratory and Therapeutic Investigations …, 2010 | 34 | 2010 |
| A novel RDS/peripherin gene mutation associated with diverse macular phenotypes Z Yang, Y Li, L Jiang, G Karan, D Moshfeghi, S O'Connor, X Li, Z Yu, ... Ophthalmic genetics 25 (2), 133-145, 2004 | 29 | 2004 |
