John B. Kwok

This study identifies genetic variants associated with REM sleep behavior disorder in Parkinson's disease and explores genetic correlations with neuropsychiatric traits.

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

Peripheral blood-derived cells can be employed to stratify Parkinson's disease patients most likely to respond to LRRK2-related therapeutics.

The paper introduces a single-cell DNA methylation sequencing method that improves resolution and accuracy compared to existing techniques.

The paper investigates how TBK1 missense variants affect TDP-43 mislocalization and OPTN binding in FTD and ALS, finding that loss of OPTN binding is more critical than kinase activity.

This paper develops an automated method to quantify TDP-43 and FUS mislocalization in human cell lines to assess the pathogenicity of FTD and ALS gene variants.

This study examines the heritability and environmental influences on the plasma lipidome in older Australian twins, finding most variation is due to unique environmental factors.

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

The paper reports epigenome-wide meta-analyses of blood DNA methylation with subcortical brain volumes, identifying significant associations with hippocampal volume and potential biological mechanisms.

This study identifies genetic loci specific to periventricular and deep white matter hyperintensities, revealing distinct genetic architectures and potential biological mechanisms.

The paper identifies 161 genome-wide significant genetic associations for cortical structure traits across 34 brain regions, highlighting key biological pathways and gene functions.

The paper identifies genetic associations with cortical surface area using PCA and GWAS, linking DAAM1 to visual cortex development through mitochondrial pathways and thalamocortical input.

The paper improves age prediction from DNA methylation using larger datasets, showing reduced error and limitations in capturing biological ageing variation.

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.

This study identifies genetic overlaps between frontotemporal dementia and immune-mediated diseases, finding strong enrichment with rheumatoid arthritis and moderate enrichment with other immune conditions.