Area of research
Genetics · Hematology
Research interest
Research interests include Genetic Associations and Epidemiology, Platelet Disorders and Treatments, Genomics and Rare Diseases, and Myeloproliferative Neoplasms: Diagnosis and Treatment.
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Genetic evidence of assortative mating in humans
Platelet function is modified by common sequence variation in megakaryocyte super enhancers
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
Genetic studies of body mass index yield new insights for obesity biology
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
Transcriptional diversity during lineage commitment of human blood progenitors
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics
Seventy-five genetic loci influencing the human red blood cell