| La FAM fatale: USP9X in development and disease M Murtaza, LA Jolly, J Gecz, SA Wood Cellular and molecular life sciences 72, 2075-2089, 2015 | 184 | 2015 |
| Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth CC Homan, R Kumar, LS Nguyen, E Haan, FL Raymond, F Abidi, ... The American Journal of Human Genetics 94 (3), 470-478, 2014 | 144 | 2014 |
| A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ... The American Journal of Human Genetics 87 (3), 371-375, 2010 | 139 | 2010 |
| The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal … LA Jolly, CC Homan, R Jacob, S Barry, J Gecz Human molecular genetics 22 (23), 4673-4687, 2013 | 127 | 2013 |
| The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and β-catenin RZ Murray, LA Jolly, SA Wood Molecular biology of the cell 15 (4), 1591-1599, 2004 | 124 | 2004 |
| Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability LS Nguyen, L Jolly, C Shoubridge, WK Chan, L Huang, F Laumonnier, ... Molecular psychiatry 17 (11), 1103-1115, 2012 | 120 | 2012 |
| Viperin is an important host restriction factor in control of Zika virus infection KH Van der Hoek, NS Eyre, B Shue, O Khantisitthiporn, K Glab-Ampi, ... Scientific reports 7 (1), 4475, 2017 | 117 | 2017 |
| A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability L Huang, LA Jolly, S Willis-Owen, A Gardner, R Kumar, E Douglas, ... The American Journal of Human Genetics 91 (4), 694-702, 2012 | 114 | 2012 |
| De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations MRF Reijnders, V Zachariadis, B Latour, L Jolly, GM Mancini, R Pfundt, ... The American Journal of Human Genetics 98 (2), 373-381, 2016 | 93 | 2016 |
| Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis S Stegeman, LA Jolly, S Premarathne, J Gecz, LJ Richards, ... PloS one 8 (7), e68287, 2013 | 88 | 2013 |
| Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase L Paemka, VB Mahajan, SN Ehaideb, JM Skeie, MC Tan, S Wu, AJ Cox, ... PLoS genetics 11 (3), e1005022, 2015 | 81 | 2015 |
| USP9X enhances the polarity and self-renewal of embryonic stem cell-derived neural progenitors LA Jolly, V Taylor, SA Wood Molecular biology of the cell 20 (7), 2015-2029, 2009 | 77 | 2009 |
| THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability R Kumar, MA Corbett, BWM Van Bon, JA Woenig, L Weir, E Douglas, ... The American Journal of Human Genetics 97 (2), 302-310, 2015 | 74 | 2015 |
| Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice DT Pederick, CC Homan, EJ Jaehne, SG Piltz, BP Haines, BT Baune, ... Scientific reports 6 (1), 26765, 2016 | 66 | 2016 |
| HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain LA Jolly, LS Nguyen, D Domingo, Y Sun, S Barry, M Hancarova, ... Human molecular genetics 24 (12), 3335-3347, 2015 | 64 | 2015 |
| A Upf3b-mutant mouse model with behavioral and neurogenesis defects L Huang, EY Shum, SH Jones, CH Lou, J Chousal, H Kim, AJ Roberts, ... Molecular psychiatry 23 (8), 1773-1786, 2018 | 63 | 2018 |
| Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response JL Johnson, L Stoica, Y Liu, PJ Zhu, A Bhattacharya, SA Buffington, ... Neuron 104 (4), 665-679. e8, 2019 | 51 | 2019 |
| PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy CC Homan, S Pederson, TH To, C Tan, S Piltz, MA Corbett, E Wolvetang, ... Neurobiology of Disease 116, 106-119, 2018 | 51 | 2018 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 45 | 2020 |
| USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors CR Bridges, MC Tan, S Premarathne, D Nanayakkara, B Bellette, ... Scientific reports 7 (1), 391, 2017 | 38 | 2017 |
Jozef GeczThe University of AdelaideGeverifieerd e-mailadres voor adelaide.edu.au
