| The vertebrate primary cilium in development, homeostasis, and disease JM Gerdes, EE Davis, N Katsanis Cell 137 (1), 32-45, 2009 | 865 | 2009 |
| Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome CC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, ... Nature genetics 40 (4), 443-448, 2008 | 486 | 2008 |
| RNAi-mediated allelic trans-interaction at the imprinted Rtl1/Peg11 locus E Davis, F Caiment, X Tordoir, J Cavaillé, A Ferguson-Smith, N Cockett, ... Current Biology 15 (8), 743-749, 2005 | 423 | 2005 |
| 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 | 421 | 2011 |
| CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs AC Merveille, EE Davis, A Becker-Heck, M Legendre, I Amirav, G Bataille, ... Nature genetics 43 (1), 72-78, 2011 | 397 | 2011 |
| The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia A Gherman, EE Davis, N Katsanis Nature genetics 38 (9), 961-962, 2006 | 355 | 2006 |
| BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus C Stoetzel, V Laurier, EE Davis, J Muller, S Rix, JL Badano, CC Leitch, ... Nature genetics 38 (5), 521-524, 2006 | 354 | 2006 |
| 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 | 345 | 2010 |
| A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies H Khanna, EE Davis, CA Murga-Zamalloa, A Estrada-Cuzcano, I Lopez, ... Nature genetics 41 (6), 739-745, 2009 | 310 | 2009 |
| Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome C Stoetzel, J Muller, V Laurier, EE Davis, NA Zaghloul, S Vicaire, ... The American Journal of Human Genetics 80 (1), 1-11, 2007 | 300 | 2007 |
| CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 NT Gorden, HH Arts, MA Parisi, KLM Coene, SJF Letteboer, ... The American Journal of Human Genetics 83 (5), 559-571, 2008 | 278 | 2008 |
| KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ... Nature genetics 43 (6), 601-606, 2011 | 267 | 2011 |
| An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016 | 263 | 2016 |
| A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055. e25, 2022 | 250 | 2022 |
| Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013 | 249 | 2013 |
| TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ... The American Journal of Human Genetics 89 (6), 713-730, 2011 | 236 | 2011 |
| The ciliopathies: a transitional model into systems biology of human genetic disease EE Davis, N Katsanis Current opinion in genetics & development 22 (3), 290-303, 2012 | 186 | 2012 |
| ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry R Hjeij, A Lindstrand, R Francis, MA Zariwala, X Liu, Y Li, R Damerla, ... The American Journal of Human Genetics 93 (2), 357-367, 2013 | 178 | 2013 |
| Pitchfork regulates primary cilia disassembly and left-right asymmetry D Kinzel, K Boldt, EE Davis, I Burtscher, D Trümbach, B Diplas, ... Developmental cell 19 (1), 66-77, 2010 | 178 | 2010 |
| SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ... Nature genetics 49 (2), 238-248, 2017 | 175 | 2017 |
Nicholas KatsanisGalatea BioVerified email at galatea.bio
