Mary Mathias

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

Guideline for the diagnosis and management of the rare coagulation disorders

Andrew Mumford, Sam Ackroyd, Raza Alikhan et al. · British Journal of Haematology · 2014 · 360 citations

6-month multidisciplinary follow-up and outcomes of patients with paediatric inflammatory multisystem syndrome (PIMS-TS) at a UK tertiary paediatric hospital: a retrospective cohort study

Justin Penner, Omar Abdel‐Mannan, Karlie Grant et al. · The Lancet Child & Adolescent Health · 2021 · 203 citations

Family Medicine, Retrospective Cohort Study, Primary Care +9

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