| Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination EA Otto, B Schermer, T Obara, JF O'Toole, KS Hiller, AM Mueller, RG Ruf, ... Nature genetics 34 (4), 413-420, 2003 | 741 | 2003 |
| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ... Nature genetics 38 (6), 674-681, 2006 | 729 | 2006 |
| A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition FR Garcia-Gonzalo, KC Corbit, MS Sirerol-Piquer, G Ramaswami, EA Otto, ... Nature genetics 43 (8), 776-784, 2011 | 691 | 2011 |
| Barttin is a Cl- channel β-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion R Estévez, T Boettger, V Stein, R Birkenhäger, E Otto, F Hildebrandt, ... Nature 414 (6863), 558-561, 2001 | 687 | 2001 |
| Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ... Nature genetics 38 (12), 1397-1405, 2006 | 668 | 2006 |
| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways L Sang, JJ Miller, KC Corbit, RH Giles, MJ Brauer, EA Otto, LM Baye, ... Cell 145 (4), 513-528, 2011 | 657 | 2011 |
| Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure R Birkenhäger, E Otto, MJ Schürmann, M Vollmer, EM Ruf, I Maier-Lutz, ... Nature genetics 29 (3), 310-314, 2001 | 603 | 2001 |
| SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes RG Ruf, PX Xu, D Silvius, EA Otto, F Beekmann, UT Muerb, S Kumar, ... Proceedings of the National Academy of Sciences 101 (21), 8090-8095, 2004 | 497 | 2004 |
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ... Nature genetics 37 (3), 282-288, 2005 | 452 | 2005 |
| Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis H Olbrich, M Fliegauf, J Hoefele, A Kispert, E Otto, A Volz, MT Wolf, ... Nature genetics 34 (4), 455-459, 2003 | 446 | 2003 |
| Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome V Cantagrel, JL Silhavy, SL Bielas, D Swistun, SE Marsh, JY Bertrand, ... The American Journal of Human Genetics 83 (2), 170-179, 2008 | 424 | 2008 |
| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ... Cell 150 (3), 533-548, 2012 | 421 | 2012 |
| In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, ... Human molecular genetics 15 (11), 1847-1857, 2006 | 417 | 2006 |
| TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ... Nature genetics 43 (3), 189-196, 2011 | 411 | 2011 |
| A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 F Hildebrandt, E Otto, C Rensing, HG Nothwang, M Vollmer, J Adolphs, ... Nature genetics 17 (2), 149-153, 1997 | 402 | 1997 |
| High-throughput screening enhances kidney organoid differentiation from human pluripotent stem cells and enables automated multidimensional phenotyping SM Czerniecki, NM Cruz, JL Harder, R Menon, J Annis, EA Otto, ... Cell stem cell 22 (6), 929-940. e4, 2018 | 394 | 2018 |
| Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, ... Nature genetics 42 (10), 840-850, 2010 | 387 | 2010 |
| Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? F Hildebrandt, E Otto Nature Reviews Genetics 6 (12), 928-940, 2005 | 370 | 2005 |
| ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner, S Lovric, H Fang, ... The Journal of clinical investigation 123 (12), 5179-5189, 2013 | 367 | 2013 |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ... Nature genetics 42 (7), 619-625, 2010 | 331 | 2010 |
Matthias KretzlerProfessor of Internal Medicine, University of MichiganVerified email at umich.edu
