|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
|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
|La FAM fatale: USP9X in development and disease|
M Murtaza, LA Jolly, J Gecz, SA Wood
Cellular and molecular life sciences 72 (11), 2075-2089, 2015
|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
|The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronalá…|
LA Jolly, CC Homan, R Jacob, S Barry, J Gecz
Human molecular genetics 22 (23), 4673-4687, 2013
|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, 2012
|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
|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
|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
|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
|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
|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
|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
|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
|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, 26765, 2016
|Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems|
R Kumar, MA Corbett, BWM Van Bon, A Gardner, JA Woenig, LA Jolly, ...
Human molecular genetics 24 (25), 7171-7181, 2015
|Loss of Usp9x disrupts cell adhesion, and components of the Wnt and Notch signaling pathways in neural progenitors|
S Premarathne, M Murtaza, N Matigian, LA Jolly, SA Wood
Scientific reports 7 (1), 8109, 2017
|A Upf3b-mutant mouse model with behavioral and neurogenesis defects|
L Huang, EY Shum, SH Jones, CH Lou, J Dumdie, H Kim, AJ Roberts, ...
Molecular psychiatry 23 (8), 1773, 2018
|Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability|
M Melko, LS Nguyen, M Shaw, L Jolly, B Bardoni, J Gecz
Human molecular genetics 22 (15), 2984-2991, 2013
|Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis|
SJ Hinze, MR Jackson, S Lie, L Jolly, M Field, SC Barry, RJ Harvey, ...
Translational psychiatry 7 (5), e1110, 2017