Area of research
Genetics · Cancer Research
Research interest
Research interests include Genetic Associations and Epidemiology, Genetics and Neurodevelopmental Disorders, Cancer Genomics and Diagnostics, and Genomics and Rare Diseases.
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children
The UK10K project identifies rare variants in health and disease
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Whole-genome sequence-based analysis of thyroid function
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
The correlation between reading and mathematics ability at age twelve has a substantial genetic component
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis
Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations
Common variants in the HLA-DRB1–HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis
Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics
Correction: Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus