Lachlan A. Jolly

Adelaide, SA 5005, Australia

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 39 publications

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Journal: medRxiv : the preprint server for health sciences
Published: March 23, 2026

UPF3A and UPF3B shape the transcriptome cooperatively yet oppose cell function.

UPF3A and UPF3B shape the transcriptome cooperatively yet oppose cell function.

Journal: Journal of molecular biology
Published: March 06, 2026

Genetic disruption of nonsense-mediated mRNA decay in neurodevelopmental disorders.

Genetic disruption of nonsense-mediated mRNA decay in neurodevelopmental disorders.

Journal: Current opinion in genetics & development
Published: March 03, 2025

RNA variant assessment using transactivation and transdifferentiation.

RNA variant assessment using transactivation and transdifferentiation.

Journal: American journal of human genetics
Published: March 08, 2024

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway.

Journal: Molecular psychiatry
Published: July 06, 2023

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Journal: Nature communications
Published: June 16, 2023

Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines.

Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines.

Journal: STAR protocols
Published: June 15, 2022

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 23, 2022

Vav Proteins in Development of the Brain: A Potential Relationship to the Pathogenesis of Congenital Zika Syndrome?

Vav Proteins in Development of the Brain: A Potential Relationship to the Pathogenesis of Congenital Zika Syndrome?

Journal: Viruses
Published: January 11, 2022

The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders.

The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders.

Journal: Biological psychiatry
Published: November 08, 2021

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.

Journal: Molecular genetics and metabolism reports
Published: September 30, 2021

Missense variant contribution to USP9X-female syndrome.

Missense variant contribution to USP9X-female syndrome.

Journal: NPJ genomic medicine
Published: August 07, 2020
Showing 1-12 of 39

Last Updated: 09/26/2026