Elizabeth T. Cirulli

This paper shows that polygenic risk scores for CAD can create false treatment response patterns due to collider bias, not actual biological effects.

Population genomic screening identified familial hypercholesterolemia patients, leading to improved lipid-lowering therapies and LDL-C reductions.

This paper introduces a method to reclassify variants of uncertain significance using real-world evidence from large-scale datasets, significantly improving variant interpretation.

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

This study assesses the cancer risk associated with PMS2 pathogenic variants in the general population and finds low clinical utility for genomic screening.

This paper develops a method to predict Lp(a) levels from genomic data, combining SNV risk scores and KIV-2 repeat counts, and shows it improves risk prediction for cardiovascular disease in diverse populations.

This study evaluates genetic screening approaches for breast cancer risk, finding that combining rare and common variants improves risk stratification.

The paper identifies GCK variant carriers at increased risk for T2D and its complications, despite their glucose elevations not meeting standard T2D criteria.

The paper investigates the impact of hypertension on the positive predictive value (PPV) for polycystic kidney disease in carriers of PKD1 and PKD2 variants.

The paper introduces Power Window, a method to identify clinically impactful regions of genes using population-scale datasets, showing improved accuracy in variant effect prediction.

The paper uses symptom-based case predictions to conduct a GWAS on COVID-19, finding new genetic susceptibility insights and suggesting different genetic architectures for severity and susceptibility.

This paper identifies potential nootropic drug targets by integrating large-scale cognitive GWAS and transcriptomic data to find credible druggable genes.

Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.

The paper analyzes >200,000 exomes to identify ACE2 gene variants that may affect SARS-CoV-2 interaction and loss of function intolerance.

The paper analyzes rare variants in 54,000 exomes across 3,166 phenotypes, identifying 78 gene-based associations with significant effects on human traits.

The paper uses pleiotropic meta-analysis to identify genetic loci associated with cognition, education, and schizophrenia, revealing distinct biological mechanisms for concordant and discordant genetic correlations.

The paper applies two novel collapsing methods to ALS sequencing data to identify risk regions in known ALS genes and candidate genes.

This study evaluates a precision health platform integrating whole genome sequencing and noninvasive clinical assessments in 1190 healthy participants, identifying significant genetic and phenotypic findings linked to disease risk.

This study identifies metabolic and genetic signatures of obesity using metabolome analysis and whole genome sequencing in twin and volunteer cohorts, revealing clinically meaningful heterogeneity.

The paper integrates multimodal health data to identify novel biomarker signatures for health and disease, showing better predictive power for diabetes and hypertension than traditional biomarkers.

This study identifies 206 new genomic loci and 1,041 genes associated with intelligence using a large GWAS meta-analysis of 279,930 individuals.

This study identifies 99 genetic loci associated with general cognitive function using data from 280,360 individuals, finding genes linked to brain structure and neurodegenerative disorders.

This study performs a large-scale GWAS of cognitive ability, identifies 70 genomic loci, and finds tissue-specific gene expression and potential drug targets.

The paper analyzes rare variants in dystonia genes in population controls and sporadic dystonia patients to assess their clinical relevance.