| Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations D Bockenhauer, S Feather, HC Stanescu, S Bandulik, AA Zdebik, ... New England Journal of Medicine 360 (19), 1960-1970, 2009 | 609 | 2009 |
| IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy PL Beales, E Bland, JL Tobin, C Bacchelli, B Tuysuz, J Hill, S Rix, ... Nature genetics 39 (6), 727-729, 2007 | 367 | 2007 |
| The nonmotile ciliopathies JL Tobin, PL Beales Genetics in Medicine 11 (6), 386-402, 2009 | 267 | 2009 |
| Bardet–Biedl syndrome: beyond the cilium JL Tobin, PL Beales Pediatric Nephrology 22, 926-936, 2007 | 230 | 2007 |
| Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet–Biedl syndrome JL Tobin, M Di Franco, E Eichers, H May-Simera, M Garcia, J Yan, ... Proceedings of the National Academy of Sciences 105 (18), 6714-6719, 2008 | 221 | 2008 |
| Modeling ciliopathies: Primary cilia in development and disease RJ Quinlan, JL Tobin, PL Beales Current topics in developmental biology 84, 249-310, 2008 | 185 | 2008 |
| Restoration of renal function in zebrafish models of ciliopathies JL Tobin, PL Beales Pediatric nephrology 23 (11), 2095-2099, 2008 | 92 | 2008 |
| Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome F Mahmood, M Mozere, AA Zdebik, HC Stanescu, J Tobin, PL Beales, ... Disease models & mechanisms 6 (3), 652-660, 2013 | 60 | 2013 |
| Annelid Distal-less/Dlx duplications reveal varied post-duplication fates C McDougall, N Korchagina, JL Tobin, DEK Ferrier BMC evolutionary biology 11, 1-16, 2011 | 20 | 2011 |
| The Ciliopathies: A Functional and Therapeutic Investigation J Tobin LAP Lambert Acad. Publ., 2010 | | 2010 |
| Rare but Relevant Kidney Disorders UI Scholl, M Choi, T Liu, VT Ramaekers, MG Häusler, J Grimmer, ... Clinical Journal of the American Society of Nephrology 4 (11), 1701-1704, 2009 | | 2009 |
| A functional and therapeutic investigation of ciliopathy proteins and ciliopathies JL Tobin PQDT-Global, 2008 | | 2008 |
