Mutations in α-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans DA Keays, G Tian, K Poirier, GJ Huang, C Siebold, J Cleak, PL Oliver, ... Cell 128 (1), 45-57, 2007 | 490 | 2007 |
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria XH Jaglin, K Poirier, Y Saillour, E Buhler, G Tian, N Bahi-Buisson, ... Nature genetics 41 (6), 746-752, 2009 | 387 | 2009 |
Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits M Groszer, DA Keays, RMJ Deacon, JP De Bono, S Prasad-Mulcare, ... Current Biology 18 (5), 354-362, 2008 | 379 | 2008 |
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A) K Poirier, DA Keays, F Francis, Y Saillour, N Bahi, S Manouvrier, ... Human mutation 28 (11), 1055-1064, 2007 | 280 | 2007 |
A novel α-conotoxin identified by gene sequencing is active in suppressing the vascular response to selective stimulation of sensory nerves in vivo DW Sandall, N Satkunanathan, DA Keays, MA Polidano, X Liping, ... Biochemistry 42 (22), 6904-6911, 2003 | 231 | 2003 |
Clusters of iron-rich cells in the upper beak of pigeons are macrophages not magnetosensitive neurons CD Treiber, MC Salzer, J Riegler, N Edelman, C Sugar, M Breuss, ... Nature 484 (7394), 367-370, 2012 | 223 | 2012 |
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities M Breuss, JIT Heng, K Poirier, G Tian, XH Jaglin, Z Qu, A Braun, T Gstrein, ... Cell reports 2 (6), 1554-1562, 2012 | 208 | 2012 |
A gene-driven ENU-based approach to generating an allelic series in any gene MM Quwailid, A Hugill, N Dear, L Vizor, S Wells, E Horner, S Fuller, ... Mammalian Genome 15, 585-591, 2004 | 181 | 2004 |
Therapeutic applications of conotoxins that target the neuronal nicotinic acetylcholine receptor BG Livett, DW Sandall, D Keays, J Down, KR Gayler, N Satkunanathan, ... Toxicon 48 (7), 810-829, 2006 | 172 | 2006 |
Magnetoreception—a sense without a receptor GC Nordmann, T Hochstoeger, DA Keays PLoS biology 15 (10), e2003234, 2017 | 144 | 2017 |
Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice B Yalcin, J Fullerton, S Miller, DA Keays, S Brady, A Bhomra, A Jefferson, ... Proceedings of the National Academy of Sciences 101 (26), 9734-9739, 2004 | 134 | 2004 |
Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia L Broix, H Jagline, E L Ivanova, S Schmucker, N Drouot, J Clayton-Smith, ... Nature genetics 48 (11), 1349-1358, 2016 | 118 | 2016 |
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation MF Howard, Y Murakami, AT Pagnamenta, C Daumer-Haas, B Fischer, ... The American Journal of Human Genetics 94 (2), 278-287, 2014 | 117 | 2014 |
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene V Conti, A Carabalona, E Pallesi-Pocachard, E Parrini, RJ Leventer, ... Brain 136 (11), 3378-3394, 2013 | 103 | 2013 |
Tubulins and brain development–The origins of functional specification MW Breuss, I Leca, T Gstrein, AH Hansen, DA Keays Molecular and Cellular Neuroscience 84, 58-67, 2017 | 95 | 2017 |
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome A Hempel, AT Pagnamenta, M Blyth, S Mansour, V McConnell, I Kou, ... Journal of medical genetics 53 (3), 152-162, 2016 | 86 | 2016 |
No evidence for intracellular magnetite in putative vertebrate magnetoreceptors identified by magnetic screening NB Edelman, T Fritz, S Nimpf, P Pichler, M Lauwers, RW Hickman, ... Proceedings of the National Academy of Sciences 112 (1), 262-267, 2015 | 86 | 2015 |
Mutations in either TUBB or MAPRE2 cause circumferential skin creases Kunze type M Isrie, M Breuss, G Tian, AH Hansen, F Cristofoli, J Morandell, ... The American Journal of Human Genetics 97 (6), 790-800, 2015 | 85 | 2015 |
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies AT Pagnamenta, S Lise, V Harrison, H Stewart, S Jayawant, ... Journal of human genetics 57 (1), 70-72, 2012 | 85 | 2012 |
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies B Ilkovski, AT Pagnamenta, GL O'Grady, T Kinoshita, MF Howard, M Lek, ... Human molecular genetics 24 (21), 6146-6159, 2015 | 82 | 2015 |