Lachlan Jolly
Lachlan Jolly
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TitleCited byYear
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
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