Heather Jane Cordell

Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals

This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

Genome-wide association study identifies susceptibility loci for acute myeloid leukemia

This study identifies two genome-wide significant susceptibility loci for acute myeloid leukemia through a meta-analysis of GWAS data.

Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome

The paper assesses heritability and identifies genetic variants influencing plasma NAE and CER lipid levels using GWAS in a family cohort.

Genome-wide association study in European patients with congenital heart disease identifies risk loci for transposition of the great arteries and anomalies of the thoracic arteries and veins and expression of discovered candidate genes in the developing heart

This study identifies genetic risk loci for congenital heart disease subtypes and shows candidate genes play essential roles in heart development.

Bayesian network analysis incorporating genetic anchors complements conventional Mendelian randomization approaches for exploratory analysis of causal relationships in complex data

This paper compares Bayesian network analysis with Mendelian randomization for causal inference in complex datasets, finding BN with genetic anchors performs better in certain scenarios.

A genome-wide association study highlights a regulatory role for IFNG-AS1 contributing to cutaneous leishmaniasis in Brazil

This study conducts a genome-wide association study to identify genetic risk factors for cutaneous leishmaniasis in Brazil, finding novel associations and highlighting the regulatory role of IFNG-AS1 in interferon-gamma responses.

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

This paper conducts a genome-wide association study of mitochondrial DNA copy number in two cohorts, identifying potential loci and highlighting the need for larger studies.

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

This study identifies 6 new blood pressure loci and 48 genes involved in BP regulation using GWAS and gene expression data from blood and kidney tissues.