Area of research
Molecular Biology · Hematology
Research interest
Research interests include Platelet Disorders and Treatments, RNA modifications and cancer, Genomics and Phylogenetic Studies, and Cancer-related molecular mechanisms research.
The reference epigenome and regulatory chromatin landscape of chronic lymphocytic leukemia
Platelet function is modified by common sequence variation in megakaryocyte super enhancers
SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume
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
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Transcriptional diversity during lineage commitment of human blood progenitors
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome