Sarah K. Westbury

Rare disease gene association discovery in the 100,000 GenomesProject

Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits

Specifications of the variant curation guidelines for <i>ITGA2B</i>/<i>ITGB3</i>: ClinGen Platelet Disorder Variant Curation Panel

Next‐generation sequencing for the diagnosis of<i>MYH9</i>‐RD: Predicting pathogenic variants

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

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

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

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