Carolyn M. Millar

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

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

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

A dominant gain-of-function mutation in universal tyrosine kinase <i>SRC</i> causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Ernest Turro, Daniel Greene, Anouck Wijgaerts et al. · Science Translational Medicine · 2016 · 142 citations · Full text

Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial

Pier Mannuccio Mannucci, Christine L. Kempton, Carolyn M. Millar et al. · Blood · 2013 · 128 citations · Full text