Sarah K. Westbury

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Transcriptional diversity during lineage commitment of human blood progenitors

Lu Chen, Myrto Kostadima, Joost H.A. Martens et al. · Science · 2014 · 296 citations · Full text

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan Stephens, Fengyuan Hu et al. · Blood · 2016 · 182 citations · Full text

Chorein detection for the diagnosis of chorea‐acanthocytosis

Carol Dobson‐Stone, Antonio Velayos‐Baeza, Lea A. Filippone et al. · Annals of Neurology · 2004 · 160 citations

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Simon Stritt, Paquita Nurden, Ernest Turro et al. · Blood · 2016 · 154 citations · Full text