Margaret M. Parker

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

This study identifies a significant association between the V122I TTR variant and polyneuropathy in Black individuals, highlighting increased risk of hATTR amyloidosis manifestations.

The paper identifies GIGYF1 loss of function variants as associated with increased risk of type 2 diabetes and higher glucose/HbA1c levels in a large exome sequencing study.

The paper investigates the association between the TTR T119M mutation and vascular disease or death in the UK Biobank, finding no significant protective effect.

The paper uses admixture mapping to identify smoking-dependent loci affecting lung function in African Americans, finding two genome-wide significant loci associated with ancestry-smoking interactions.

The paper identifies FBXO38 as a novel COPD susceptibility gene by analyzing genetically driven alternative splicing and finding a protective exon associated with COPD risk.

The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.

This paper extends the Rare Variant Sharing method to handle partial variant sharing in multiplex pedigrees, showing improved power over existing methods in simulations and real data.

This study identifies over 50 new genetic loci associated with pulmonary function through a multiethnic meta-analysis of 90,715 individuals.

This study compares genotype imputation performance of three African ancestry reference panels in African American cohorts, finding 1000G provides the highest imputation quality and coverage.

The paper examines immune cell changes in COPD patients and finds associations between cell counts and lung function decline, suggesting immune response roles in disease progression.

The paper identifies ACVR1B as a candidate causal gene for emphysema distribution by integrating GWAS, eQTL, and epigenomic data.