Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic Associations and Epidemiology, Genomics and Rare Diseases, Bioinformatics and Genomic Networks, and Genomics and Phylogenetic Studies.
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
Rare variant contribution to the heritability of coronary artery disease
X‐linked genetic associations in sporadic thoracic aortic dissection
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Human-specific tandem repeat expansion and differential gene expression during primate evolution
Proteomic Architecture of Human Coronary and Aortic Atherosclerosis
Randomised clinical trial: faecal microbiota transplantation for recurrent <i>Clostridum difficile</i> infection – fresh, or frozen, or lyophilised microbiota from a small pool of healthy donors delivered by colonoscopy
A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
Prosaposin is a regulator of progranulin levels and oligomerization
An integrated map of structural variation in 2,504 human genomes
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Non-crossover gene conversions show strong GC bias and unexpected clustering in humans
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
Rare variants in <i>PPARG</i> with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data