Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic Associations and Epidemiology, Genomics and Rare Diseases, Epigenetics and DNA Methylation, and Genomic variations and chromosomal abnormalities.
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases
COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA
Development and validation of a neural network survival prediction model for ischemic heart disease
Complete human recombination maps
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum
Sequence diversity lost in early pregnancy
Recommendations for defining treatment outcomes in major psychiatric disorders using real-world data
Robust inference and widespread genetic correlates from a large-scale genetic association study of human personality
The Landscape of Shared and Divergent Genetic Influences across 14 Psychiatric Disorders
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling
Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study
Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction
Missense variants in FRS3 affect body mass index in populations of diverse ancestries
Genome-wide meta-analyses of non-response to antidepressants provide insights into underlying molecular genetics and suggest potential pharmacotherapies
Population-scale inheritance analysis of 858,635 individuals reveals North Sea migration from the Middle Ages to the Industrial Revolution
Observational and Mendelian randomization studies of plasma sclerostin levels do not provide evidence of cardiovascular adverse effects of sclerostin inhibition
African-ancestry-specific variant IKKβ p.Glu502Lys confers high lupus risk
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma
The correlation between CpG methylation and gene expression is driven by sequence variants
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
Understanding the genetic complexity of puberty timing across the allele frequency spectrum