Karen E. Huber

Discovery of genomic loci associated with sleep apnoea risk through multi-trait GWAS analysis with snoring

This study identifies 49 genetic loci associated with sleep apnoea risk using multi-trait GWAS, with 29 replicated in a large cohort, and finds genetic correlations with several complex traits.

Genome-wide association study of musical beat synchronization demonstrates high polygenicity

This study conducts a genome-wide association study to identify genetic variants linked to musical beat synchronization, finding high polygenicity with 69 significant loci and heritability estimates of 13%-16%.

Resource Profile and User Guide of the Polygenic Index Repository

The paper constructs polygenic indexes for 47 phenotypes across 11 datasets and provides a tool to correct errors-in-variables bias when using PGIs as proxies for the additive SNP factor.

Genetic analyses identify widespread sex-differential participation bias

The paper identifies sex-differential participation bias in genetic studies by performing GWAS on sex in 3.3 million individuals, finding 158 loci associated with sex and highlighting traits like BMI that may influence participation.

Genetic determinants of daytime napping and effects on cardiometabolic health

This study identifies genetic loci associated with daytime napping and finds potential causal links between napping and cardiometabolic traits.

Genome-wide study identifies association between HLA-B*55:01 and penicillin allergy

The paper identifies HLA-B*55:01 as a genetic risk factor for penicillin allergy through genome-wide analysis of electronic health records and imputed HLA data.

Genome-wide association and multi-omic analyses reveal new mechanisms for Heart Failure

This study identifies one known and two novel genetic variants associated with heart failure through GWAS and multi-omic analyses, revealing potential causal mechanisms and shared heritability with musculoskeletal traits.

Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population

The paper characterizes the prevalence and health consequences of uniparental disomy in four million individuals, identifying 675 cases and linking UPD of chromosome 22 to autism.

A genome-wide association study identifies that the GDF5 and COL27A1 genes are associated with knee pain in UK Biobank (N = 171, 516)

This study identifies two genetic loci, GDF5 and COL27A1, associated with knee pain through a genome-wide association analysis in the UK Biobank and replication in other cohorts.

Genome-wide association studies of impulsive personality traits (BIS-11 and UPPSP) and drug experimentation in up to 22,861 adult research participants

This study conducts GWAS on impulsive personality traits and drug experimentation in 22,861 adults, identifying genetic associations and correlations with psychiatric disorders.

Common variant burden contributes significantly to the familial aggregation of migraine in 1,589 families

This study shows common genetic variants significantly contribute to migraine family clustering, with higher burden in familial cases compared to population-based cases.

Genome-wide association study of depression phenotypes in UK Biobank (n = 322,580) identifies the enrichment of variants in excitatory synaptic pathways

This study conducts a GWAS on depression phenotypes in UK Biobank, identifying genetic variants enriched in excitatory synaptic pathways.

A genetic investigation of sex bias in the prevalence of attention deficit hyperactivity disorder

This study investigates genetic mechanisms underlying sex bias in ADHD prevalence using genome-wide data and finds no mean polygenic burden difference across sexes but increased risk in female siblings and comorbid conditions.

Replication and characterization of CADM2 and MSRA genes on human behavior

This study replicates and extends findings of CADM2 and MSRA gene associations with personality traits using data from 23andMe.