David A. Schwartz

This paper identifies compartment- and cell-specific molecular programs in preclinical familial pulmonary fibrosis using multi-omic profiling and finds these signatures are partially represented in peripheral blood.

TLR5 deficiency is linked to pulmonary fibrosis due to its role in preventing microbial dysbiosis following lung injury.

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.

This study identifies biallelic LRRK2 loss-of-function variants as a cause of interstitial lung disease, showing reduced LRRK2 protein and impaired lung function in affected individuals.

This study identifies sex-biased protein expression in healthy and fibrotic human lung regions, highlighting potential biological mechanisms for sex differences in 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.

The paper identifies migratory non-canonical AT2 cells in IPF lung fibrosis, showing they are trapped in developmental transition states that drive fibrosis progression.

This study shows that Siglec-F deficiency reduces fibrosis in bleomycin-induced lung injury by altering gene expression in airspace macrophages.

This study identifies proteomic changes in non-fibrotic lung tissue associated with the MUC5B promoter variant, linking them to fibrosis progression.

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.

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.

The paper identifies miRNAs and isomiRs associated with COPD and ILD through integrative network analysis of RNA-seq and SNP data from lung tissue samples.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

This study performs a large multi-ancestry meta-analysis of IPF genetics, identifying seven novel genome-wide significant loci and highlighting pleiotropy with severe COVID-19 and sex-heterogeneity at the MUC5B locus.

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

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

This study identifies 59 sentinel variants and two novel genes associated with telomere length using whole genome sequences from 109,122 trans-ethnic individuals.

The paper introduces RIFT, a method to identify influential rare variants in aggregate association tests, showing higher sensitivity and lower false positive rates compared to existing methods.

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.

The paper identifies germline genetic variants associated with clonal hematopoiesis of indeterminate potential (CHIP) using whole genome sequences from the TOPMed program.

This study expands the genetic landscape of COPD by identifying 82 risk loci, revealing associations with lung function, cell types, and comorbidities.

The paper introduces a tool for aligning sequences from molecular inversion probes, performing mapping, arm removal, and deduplication to produce SAM format alignments.