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Authors whose works are in public domain in at least one jurisdiction

List of works by Justin O'Sullivan

A genome-wide association analysis of 2,622,830 individuals reveals new pathogenic pathways in gout

A new method for determining ribosomal DNA copy number shows differences betweenSaccharomyces cerevisiaepopulations

An unbiasedde novonetwork analysis uncovering causal genes and the developmental intersection between autism and co-occurring traits

Autism spectrum disorder: understanding the impact of SNPs on biological pathways in the fetal and adult cortex

Benchmarking and quality control for nanopore sequencing and feasibility of rapid genomics in New Zealand: validation phase at a single quaternary hospital

COVID-19 risk variant associations with chromatin remodelling, DNA maintenance and surfactant genes are infection dependent in the lung

Code error in Wang H, Avillach P. “Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning.” (Preprint)

Comorbidity genetic risk and pathways impact SARS-CoV-2 infection outcomes

De novo discovery of traits co-occurring with chronic obstructive pulmonary disease

De novo identification of complex multimorbid conditions by integration of gene regulation and protein interaction networks with genome-wide association studies

De novo identification of complex traits associated with asthma

Deciphering the genetic links between NAFLD and co-occurring conditions using a liver gene regulatory network

Decoding the multimorbidities among psychiatric disorders and cognitive functioning

Establishing gene regulatory networks from Parkinson’s disease risk loci

Fine-mapping identifies 27 allele-specific MPRA regulatory variants in Parkinson’s disease related loci

Hi-C detects novel structural variants in HL-60 and HL-60/S4 cell lines

Identifying the genetic links between Parkinson’s disease and non-motor symptoms: novel insights into disease mechanisms

Local genetic covariance between serum urate and kidney function obtained from local Bayesian regressions

Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways

Machine learning identifies six genetic variants and alterations in the Heart Atrial Appendage as key contributors to PD risk predictivity

Quantitative profiling of 1-Carbon Metabolites, Amino Acids and Precursors, and Plasmalogens in human plasma using Ultra-High-Pressure Liquid Chromatography coupled with Tandem Mass Spectrometry and robotic compound extraction

Shared regulatory pathways reveal novel genetic correlations between grip strength and neuromuscular disorders

Spatially Constrained Gene Regulation Identifies Key Genetic Contributions of Preeclampsia, Hypertension and Proteinuria

The Best Start (Kia Tīmata Pai): A Study Protocol for a Cluster Randomized Trial with Early Childhood Teachers to Support Children’s Oral Language and Self-Regulation Development

Type 1 diabetes mellitus-associated genetic variants contribute to overlapping immune regulatory networks

Unravelling the shared genetic mechanisms underlying 18 autoimmune diseases using a systems approach