List of works - Lachlan A Jolly

A Upf3b-mutant mouse model with behavioral and neurogenesis defects.

scientific article published on 26 September 2017

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

scientific article

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

scientific article

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

scientific article

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

scientific article published on 11 December 2014

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

scientific article published on 6 October 2015

La FAM fatale: USP9X in development and disease

scientific article

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability

scientific journal article

Loss of Usp9x disrupts cell adhesion, and components of the Wnt and Notch signaling pathways in neural progenitors

scientific article published on 14 August 2017

Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis

scientific journal article

Missense variant contribution to USP9X-female syndrome

scientific article published on 09 December 2020

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

scientific article

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy

scientific article published on 12 May 2018

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

scientific article published on 29 June 2019

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

scientific article published on 31 May 2016

Protocadherin Mutations in Neurodevelopmental Disorders

Robust imaging and gene delivery to study human lymphoblastoid cell lines

scientific article published on 20 June 2018

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

scientific article (publication date: March 2015)

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth

scientific article published on 2 July 2013

USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors.

scientific article

Viperin is an important host restriction factor in control of Zika virus infection

scientific article

List of works by Lachlan A Jolly

A Upf3b-mutant mouse model with behavioral and neurogenesis defects.

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

La FAM fatale: USP9X in development and disease

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability

Loss of Usp9x disrupts cell adhesion, and components of the Wnt and Notch signaling pathways in neural progenitors

Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis

Missense variant contribution to USP9X-female syndrome

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice

Protocadherin Mutations in Neurodevelopmental Disorders

Robust imaging and gene delivery to study human lymphoblastoid cell lines

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth

USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors.

Viperin is an important host restriction factor in control of Zika virus infection