Area of research
Genetics · Immunology
Research interest
Research interests include Genomics and Rare Diseases, Immunodeficiency and Autoimmune Disorders, Genetic Associations and Epidemiology, and Platelet Disorders and Treatments.
Author Correction: Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes.
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
Rare variant contribution to human disease in 281,104 UK Biobank exomes
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Whole-genome sequencing of patients with rare diseases in a national health system
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Next‐generation sequencing for the diagnosis of<i>MYH9</i>‐RD: Predicting pathogenic variants
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies