Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic Associations and Epidemiology, RNA Research and Splicing, Genetics and Neurodevelopmental Disorders, and Nuclear Structure and Function.
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals
Relationship between clone metrics and clinical outcome in clonal cytopenia
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color
Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
A reference panel of 64,976 haplotypes for genotype imputation
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
<i>KLB</i> is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers
Whole-genome sequence-based analysis of thyroid function
Common Variants in UMOD Associate with Urinary Uromodulin Levels
A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function
A genome-wide association study of early menopause and the combined impact of identified variants
Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans
Evidence of Inbreeding Depression on Human Height