Toby M. Maher

Genome-wide association study of Idiopathic Pulmonary Fibrosis susceptibility using clinically-curated European-ancestry datasets

This study identifies three novel genetic signals associated with idiopathic pulmonary fibrosis using GWAS and clinically-curated datasets, highlighting potential drug targets like MUC1 and NTN4.

Cross-ancestry evaluation of idiopathic pulmonary fibrosis genetic risk variants

This study evaluates the genetic risk variants for idiopathic pulmonary fibrosis in non-European populations, finding partial replication and ancestry-specific effects, with rs35705950 as the most consistent signal.

Contribution of dominant and recessive model effects to the genetic architecture of Idiopathic Pulmonary Fibrosis

This study performs GWAS of IPF using dominant and recessive models, identifying five new genome-wide significant signals and genes, including PMF1 and EPN3, and observing increased PMF1 expression in IPF patients.

Genome-wide analysis of tandem repeat variation identifies SLC15A4 as a susceptibility gene for idiopathic pulmonary fibrosis

This study identifies SLC15A4 as a susceptibility gene for IPF through genome-wide analysis of tandem repeat variation, showing its role in gene expression and disease risk.

Rare variants and survival of patients with idiopathic pulmonary fibrosis

This study investigates the impact of rare variants and polygenic risk scores on survival in idiopathic pulmonary fibrosis patients, finding that rare variants are associated with worse outcomes.

Burden of rare pathogenic variants suggests disrupted cytoskeletal organisation in the pathogenesis of pulmonary fibrosis

The paper identifies rare pathogenic variants associated with pulmonary fibrosis by analyzing whole genome sequencing data and linking them to cytoskeletal dysfunction.

Association between mosaic loss of chromosome Y and pulmonary fibrosis susceptibility and severity

This study investigates the association between mosaic loss of chromosome Y (mLOY) and pulmonary fibrosis, finding mLOY correlates with age and telomere length but not disease severity, and suggests a potential link between telomere shortening and mLOY.

Genome-wide SNP-sex interaction analysis of susceptibility to idiopathic pulmonary fibrosis

This study identifies three genetic variants with sex-specific effects on IPF susceptibility but finds no significant difference in predictive accuracy of polygenic risk scores between males and females.

Association study of human leukocyte antigen (HLA) variants and idiopathic pulmonary fibrosis

This study investigates the association between HLA genetic variants and IPF risk using a meta-analysis of seven case-control studies, finding no consistent HLA region associations.

PCSK6 and Survival in Idiopathic Pulmonary Fibrosis

The paper identifies four novel genetic variants associated with IPF survival, including a PCSK6 variant, and suggests PCSK6 as a prognostic biomarker and therapeutic target.

Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis

This study performs a genome-wide meta-analysis across five IPF cohorts, identifying five novel genetic loci associated with idiopathic pulmonary fibrosis.

Identification of a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

The paper identifies a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis through genome-wide association analysis.

Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis

This study identifies three new genetic loci associated with idiopathic pulmonary fibrosis and confirms 11 previously reported ones, highlighting mTOR signaling and mitotic spindle-assembly genes in disease susceptibility.

IL-11 is a therapeutic target in idiopathic pulmonary fibrosis

The paper identifies IL-11 as a therapeutic target in idiopathic pulmonary fibrosis by showing its role in fibroblast activation and fibrosis progression across species.

Longitudinal prediction of outcome in idiopathic pulmonary fibrosis using automated CT analysis

This study evaluates computer-derived CT variables (CALIPER vessel-related structures) as predictors of outcome in IPF, finding they outperform FVC decline in predicting prognosis and increasing trial power when used as co-endpoints.