Area of research
Genetics · Hematology
Research interest
Research interests include Platelet Disorders and Treatments, Epigenetics and DNA Methylation, T-cell and B-cell Immunology, and Genetic Associations and Epidemiology.
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis
Whole-genome sequencing of patients with rare diseases in a national health system
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders
Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH
Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
Next‐generation sequencing for the diagnosis of<i>MYH9</i>‐RD: Predicting pathogenic variants
Variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility
Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis
High-throughput elucidation of thrombus formation reveals sources of platelet function variability
Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder
DNA methylation oscillation defines classes of enhancers
Platelet function is modified by common sequence variation in megakaryocyte super enhancers
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
Epigenetic programming of monocyte-to-macrophage differentiation and trained innate immunity
Transcriptional diversity during lineage commitment of human blood progenitors
Postthymic Expansion in Human CD4 Naive T Cells Defined by Expression of Functional High-Affinity IL-2 Receptors