Publications by authors named "Lachlan Jolly"

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Genetic disruption of nonsense-mediated mRNA decay in neurodevelopmental disorders.
Saba Montazaribarforoushi, Lachlan A Jolly

Curr Opin Genet Dev· October 2025

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RNA variant assessment using transactivation and transdifferentiation.
Emmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, Alison Gardner, Mark A Corbett, Lachlan A Jolly

Am J Hum Genet· August 2024

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Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.
Rebekah de Nys, Alison Gardner, Clare van Eyk, Stefka Mincheva-Tasheva, Paul Thomas, Lachlan Jolly

Mol Psychiatry· July 2024

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Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.
Rudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, Ing Chee Wee, Sushma R Rao

Nat Commun· February 2024

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Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines.
Raman Kumar, Karthik S Kamath, Luke Carroll, Peter Hoffmann, Jozef Gecz, Lachlan A Jolly

STAR Protoc· December 2022

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Lachlan A Jolly

Genet Med· November 2022

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The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders.
Lachlan A Jolly, Raman Kumar, Peter Penzes, Michael Piper, Jozef Gecz

Biol Psychiatry· October 2022

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Vav Proteins in Development of the Brain: A Potential Relationship to the Pathogenesis of Congenital Zika Syndrome?
Aidan J Norbury, Lachlan A Jolly, Luke P Kris, Jillian M Carr

Viruses· February 2022

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Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.
Rebecca J Lehmann, Lachlan A Jolly, Brett V Johnson, Megan S Lord, Ha Na Kim

Mol Genet Metab Rep· December 2021

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Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Duyen H Pham, Melissa R Pitman, Raman Kumar, Lachlan A Jolly, Renee Schulz

Hum Mutat· August 2021

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Abnormal Behavior and Cortical Connectivity Deficits in Mice Lacking Usp9x.
Maria A Kasherman, Laura Currey, Nyoman D Kurniawan, Oressia Zalucki, Michelle Sanchez Vega, Lachlan A Jolly

Cereb Cortex· February 2021

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Missense variant contribution to USP9X-female syndrome.
Lachlan A Jolly, Euan Parnell, Alison E Gardner, Mark A Corbett, Luis A Pérez-Jurado

NPJ Genom Med· December 2020

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A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.
Deepti Domingo, Urwah Nawaz, Mark Corbett, Josh L Espinoza, Katrina Tatton-Brown, Lachlan A Jolly

Hum Mol Genet· August 2020

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Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development.
Sehyoun Yoon, Euan Parnell, Maria Kasherman, Marc P Forrest, Kristoffer Myczek, Lachlan A Jolly

Neuron· February 2020

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Brett V Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Lachlan A Jolly

Biol Psychiatry· January 2020

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Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.
Jennifer L Johnson, Loredana Stoica, Yuwei Liu, Ping Jun Zhu, Abhisek Bhattacharya, Lachlan Jolly

Neuron· November 2019

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Robust imaging and gene delivery to study human lymphoblastoid cell lines.
Lachlan A Jolly, Ying Sun, Renée Carroll, Claire C Homan, Jozef Gecz

J Hum Genet· September 2018

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PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.
Claire C Homan, Stephen Pederson, Thu-Hien To, Chuan Tan, Sandra Piltz, Lachlan A Jolly

Neurobiol Dis· August 2018

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Loss of Usp9x disrupts cell adhesion, and components of the Wnt and Notch signaling pathways in neural progenitors.
Susitha Premarathne, Mariyam Murtaza, Nicholas Matigian, Lachlan A Jolly, Stephen A Wood

Sci Rep· August 2017

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Viperin is an important host restriction factor in control of Zika virus infection.
Kylie H Van der Hoek, Nicholas S Eyre, Byron Shue, Onruedee Khantisitthiporn, Kittirat Glab-Ampi, Lachlan A Jolly

Sci Rep· June 2017

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USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors.
Caitlin R Bridges, Men-Chee Tan, Susitha Premarathne, Devathri Nanayakkara, Bernadette Bellette, Lachlan A Jolly

Sci Rep· March 2017

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Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice.
Daniel T Pederick, Claire C Homan, Emily J Jaehne, Sandra G Piltz, Bryan P Haines, Lachlan A Jolly

Sci Rep· May 2016

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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Margot R F Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M Mancini

Am J Hum Genet· February 2016

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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Raman Kumar, Mark A Corbett, Bregje W M Van Bon, Alison Gardner, Joshua A Woenig, Lachlan A Jolly

Hum Mol Genet· December 2015

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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Raman Kumar, Mark A Corbett, Bregje W M van Bon, Joshua A Woenig, Lloyd Weir, Lachlan A Jolly

Am J Hum Genet· August 2015

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