Susan K. Service

The paper identifies a founder variant in ADAP1 associated with increased risk of schizophrenia and bipolar disorder in a Colombian genetic isolate.

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

This study identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

This study identifies 31 genome-wide significant associations between structural variations and cardiometabolic traits in Finns, including two novel loci with strong phenotypic effects.

The paper investigates how diagnosis and symptom domains affect cognitive performance in a case-control study of severe mental illness, finding distinct cognitive profiles linked to specific symptom domains.

This study examines genetic risk for bipolar disorder in extended families, finding that both common and rare variants contribute to susceptibility, with no significant segregation of large-effect variants.

The paper identifies homozygous protein-truncating variants in vervet monkeys using whole genome sequencing and explores their potential impact on early infant mortality.

Exome sequencing in Finnish populations identifies rare trait-associated alleles with higher frequencies and geographical clustering, revealing 30 novel associations with quantitative traits.

The paper conducts GWAS and PheWAS on plasma lipid species to identify genetic associations and their links to diseases beyond traditional lipid measures.

The paper analyzes genomic diversity in Latin American population isolates, finding increased genetic diversity and consanguinity compared to the Finnish isolate.

The paper generates a transcriptome resource and eQTL catalogue in vervet monkeys, revealing sex and age-related expression patterns and key regulatory loci.