Joshua W. Knowles

The paper shows that inhibiting miR-128-3p improves muscle function and reduces aging-related pathology in multiple models.

The paper identifies genetic factors influencing iPSC growth rates, finding rare variants in WDR54 and a polygenic background explaining most variance.

FastGxC efficiently maps context-specific eQTLs in bulk and single-cell RNA-seq data, improving power and speed while enhancing biological relevance and trait association precision.

The paper uses Metabolic STAMP to map GPCR signaling pathways in β-cells, revealing distinct kinase programs and phospho-signatures that modulate insulin secretion.

This study identifies plasma proteins associated with insulin sensitivity across diverse populations and shows their response to interventions, with some proteins suggesting causal relationships and therapeutic targets.

The paper develops a method to identify genetic predictors of cardiometabolic disease progression using time-to-event data from the UK Biobank, finding ten polygenic hazard scores that significantly predict disease progression.

The paper explores primary care providers' experiences with receiving genetic results from a national biobank study, highlighting challenges in integrating genetic information into routine care.

This study identifies novel causal genes for NAFLD using a combination of GWAS, genetic colocalization, and CRISPRi functional screens.

This study shows that reducing RREB1 in mice and humans decreases adipogenesis and improves insulin sensitivity, linking RREB1 to type 2 diabetes risk.

The paper describes the design and pilot results of a study returning genetic results for familial hypercholesterolemia to MVP participants, showing a reduction in LDL-C after genetic counseling.

CROP-Seq uses CRISPRi and scRNA-Seq to screen gene targets in adipocytes, identifying gene knock-down effects and novel regulators of adipogenesis and metabolic disease.

The paper integrates genetic colocalizations with physiological and pharmacological perturbations to identify causal genes for cardiometabolic diseases.

This study shows that FH genetic variants increase CAD risk even after adjusting for multiple LDL-C measurements from EHRs, indicating LDL-C data alone cannot fully explain the risk.

The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.

The paper identifies environmental modulators of genetic risk factors for complex traits by integrating perturbation data with GWAS.

The paper maps regulatory effects of human disease variants in pluripotent cells, identifying cis- and trans-QTL across 18,556 genes and linking them to GWAS traits.

The paper examines how structural variants and short tandem repeats affect gene expression and complex traits, identifying high-impact variants associated with multiple genes and GWAS traits.

The paper discovers and genotypes a comprehensive set of structural variants and short tandem repeats using multiple algorithms and replicates, creating a well-characterized map of these variants.

This paper identifies a protective effect of PCSK9 loss-of-function variant rs11591147 against ischemic stroke using UK Biobank data.