Gannie Tzoneva

The paper performs metabolomics exome and genome-wide association studies in Amish adults, identifying genetic variants linked to metabolites and cardiometabolic traits.

The paper returns actionable genetic results to 4,198 Scottish volunteers from the Viking Genes cohort, identifying 108 actionable genotypes in 23 genes and notifying 64 participants.

The paper identifies two founder BRCA variants in Orkney and Shetland populations, accounting for 93.5% of pathogenic BRCA alleles.

The paper identifies regionally enriched rare deleterious exonic variants in the UK and Ireland using exome sequencing data, highlighting potential implications for genetic screening and counseling.

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

This study identifies fetal and maternal GDF15 as key factors in pregnancy-related nausea and vomiting, showing their roles in disease risk and severity.

The paper identifies a BRCA1 founder variant in Orcadians and estimates its high prevalence, suggesting population screening for this variant.

The paper uses exome sequencing to identify rare variants in glycosyltransferase genes affecting transferrin and IgG glycosylation, linking them to disease-related traits.

The paper identifies sex-specific genetic loci associated with plasma bile acid levels using GWAS in a population-based cohort.

The paper identifies a missense variant in B4GALT1 associated with lower LDL-C and fibrinogen, supported by genetic, functional, and glycan profiling evidence.