| Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons JG Gleeson, PT Lin, LA Flanagan, CA Walsh Neuron 23 (2), 257-271, 1999 | 1533 | 1999 |
| Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein JG Gleeson, KM Allen, JW Fox, ED Lamperti, S Berkovic, I Scheffer, ... Cell 92 (1), 63-72, 1998 | 1148 | 1998 |
| De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly JH Lee, M Huynh, JL Silhavy, S Kim, T Dixon-Salazar, A Heiberg, E Scott, ... Nature genetics 44 (8), 941-945, 2012 | 702 | 2012 |
| PAK3 mutation in nonsyndromic X-linked mental retardation KM Allen, JG Gleeson, S Bagrodia, MW Partington, JC MacMillan, ... Nature genetics 20 (1), 25-30, 1998 | 579 | 1998 |
| Functional genomic screen for modulators of ciliogenesis and cilium length J Kim, JE Lee, S Heynen-Genel, E Suyama, K Ono, KY Lee, T Ideker, ... Nature 464 (7291), 1048-1051, 2010 | 560 | 2010 |
| Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 556 | 2014 |
| Aberrant methylation of t RNA s links cellular stress to neuro‐developmental disorders S Blanco, S Dietmann, JV Flores, S Hussain, C Kutter, P Humphreys, ... The EMBO journal 33 (18), 2020-2039, 2014 | 543 | 2014 |
| NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAs S Hussain, AA Sajini, S Blanco, S Dietmann, P Lombard, Y Sugimoto, ... Cell reports 4 (2), 255-261, 2013 | 507 | 2013 |
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, ... Nature genetics 38 (6), 623-625, 2006 | 506 | 2006 |
| Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration T Tanaka, FF Serneo, C Higgins, MJ Gambello, A Wynshaw-Boris, ... The Journal of cell biology 165 (5), 709-721, 2004 | 459 | 2004 |
| 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 |
| Nucleokinesis in neuronal migration LH Tsai, JG Gleeson Neuron 46 (3), 383-388, 2005 | 424 | 2005 |
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, ... Nature genetics 41 (9), 1032-1036, 2009 | 423 | 2009 |
| 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 | 419 | 2012 |
| 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 | 410 | 2011 |
| Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning T Shu, R Ayala, MD Nguyen, Z Xie, JG Gleeson, LH Tsai Neuron 44 (2), 263-277, 2004 | 409 | 2004 |
| Neuronal migration disorders: from genetic diseases to developmental mechanisms JG Gleeson, CA Walsh Trends in neurosciences 23 (8), 352-359, 2000 | 399 | 2000 |
| LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation DT Pilz, N Matsumoto, S Minnerath, P Mills, JG Gleeson, KM Allen, ... Human molecular genetics 7 (13), 2029-2037, 1998 | 392 | 1998 |
| Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ... Nature genetics 48 (9), 1071-1076, 2016 | 355 | 2016 |
| CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium J Kim, SR Krishnaswami, JG Gleeson Human molecular genetics 17 (23), 3796-3805, 2008 | 332 | 2008 |
Christopher A WalshBoston Children's Hospital在 childrens.harvard.edu 的电子邮件经过验证
