Katherine R. Smith

The paper analyzes CYP2D6 genetic variation across 479,144 UK Biobank genomes, identifying structural and rare variants, and their clinical associations across ancestries.

This study identifies damaging LXRα mutations linked to reduced triglycerides but increased liver enzyme levels and hepatotoxicity, suggesting LXR's role in liver health and cautioning against its inhibition for MASLD treatment.

This study compares clonal haematopoiesis (CH) between admixed Americans and Europeans, finding ancestry-specific genetic factors and lower CH prevalence in admixed populations.

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

The paper identifies protein-truncating variants in BSN associated with severe adult-onset obesity, type 2 diabetes, and fatty liver disease, with no effect on childhood adiposity.

The paper identifies a synonymous mtDNA variant that affects codon-anticodon affinity and shows its impact on cellular fitness in immune cells.

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

The paper genotypes and sequences 140,000 adults from the Mexico City Prospective Study, revealing ancestry diversity and developing imputation resources for genetic studies.

The paper assesses the contribution of rare-to-common protein-coding variants to metabolic biomarker levels using UK Biobank exome sequences and identifies novel gene-biomarker relationships.

The paper identifies MAP3K15 as a protective gene for diabetes through genetic analysis and shows its inhibition could be a therapeutic strategy.

The paper identifies gene-specific mutational signatures caused by replication errors and endogenous DNA damage using CRISPR-Cas9 knockouts and whole-genome sequencing.

This study uses exome sequencing of 177,882 UK Biobank participants to assess the role of rare variants in 10,533 phenotypes, identifying 911 significant gene-phenotype relationships.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.