Marie Scully

Regional UK TTP Registry: correlation with laboratory ADAMTS 13 analysis and clinical features

Ian Mackie, Beverley Hunt, J. Cavenagh, 2008, British journal of haematology.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Caplacizumab Treatment for Acquired Thrombotic Thrombocytopenic Purpura

Flora Peyvandi, Debjit Biswas, Katerina Pavenski, 2019, The New England journal of medicine.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, Nature.

Bortezomib in the treatment of refractory thrombotic thrombocytopenic purpura

Tina Dutt, M. Scully, J. Westwood, 2016, British journal of haematology.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.