Area of research
Genetics · Molecular Biology
Research interest
Research focused on Genome-wide association study and Mendelian randomization, with related work in Expression quantitative trait loci, Primary sclerosing cholangitis, Genetics. Notable publications include 'Genomic atlas of the human plasma proteome', 'New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries', and 'Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease'.
Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases
Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy
The impact of rare protein coding genetic variation on adult cognitive function
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy
Genetic associations of protein-coding variants in human disease
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
Immune system-wide Mendelian randomization and triangulation analyses support autoimmunity as a modifiable component in dementia-causing diseases
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
Genomic atlas of the human plasma proteome
Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials
Author Correction: Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease
HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization
Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1
Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci
Genome-Wide Association Analysis in Primary Sclerosing Cholangitis And Ulcerative Colitis Identifies Risk Loci at Gpr35 And Tcf4
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations