Area of research
Genetics · Reproductive Medicine
Research interest
Research interests include Genetic Associations and Epidemiology, Genetics and Neurodevelopmental Disorders, Endometriosis Research and Treatment, and Cardiac electrophysiology and arrhythmias.
Novel loci and biomedical consequences of iron homoeostasis variation
Genetic effects on the timing of parturition and links to fetal birth weight
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Second-Line Myocardial Perfusion Imaging to Detect Obstructive Stenosis
Variants at the Interleukin 1 Gene Locus and Pericarditis
Genetic variants associated with syncope implicate neural and autonomic processes
The sequences of 150,119 genomes in the UK Biobank
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis
Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease
Danish study of Non-Invasive testing in Coronary Artery Disease 2 (Dan-NICAD 2): Study design for a controlled study of diagnostic accuracy
Common risk variants identified in autism spectrum disorder
Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq
World Endometriosis Research Foundation Endometriosis Phenome and biobanking harmonization project: II. Clinical and covariate phenotype data collection in endometriosis research
World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonization Project: III. Fluid biospecimen collection, processing, and storage in endometriosis research
World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonisation Project: IV. Tissue collection, processing, and storage in endometriosis research
Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci
Report from the European Myeloma Network on interphase FISH in multiple myeloma and related disorders