Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

Jane Hartley, Nicholas C. Zachos, Ban B. Dawood, +16

Gastroenterology

Genetic DisorderGeneticsPathogenesisGenetic EpidemiologyGastroenterology +6

A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Neil V. Morgan, Shanaz Pasha, Colin A. Johnson, +8

The American Journal of Human Genetics

Novel VariantMendelian DisorderGenetic DisorderGeneticsHermansky-pudlak Syndrome +6

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

Benjamin C. Johnson, Gillian Lowe, Jane Wong Fütterer, +31

Haematologica

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

Jacqueline Stockley, Neil V. Morgan, Danai Bem, +14

Blood

Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

Ban B. Dawood, Gillian Lowe, Marie Lordkipanidzé, +5

Blood

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects

Sarah J. Fletcher, Ben Johnson, Gillian Lowe, +12

Journal of Clinical Investigation

Slfn14 MutationsFamily MembersGeneticsImmunologyPathology +17

Identification and characterization of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

Martina E. Daly, Ban B. Dawood, Will Lester, +8

Blood

Reference curves for aggregation and ATP secretion to aid diagnose of platelet-based bleeding disorders: Effect of inhibition of ADP and thromboxane A₂pathways

Ban B. Dawood, Jonathan T. Wilde, Steve P. Watson

Platelets

A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis

Andrew Mumford, Ban B. Dawood, Martina E. Daly, +7

Blood

Evaluation of a whole blood remote platelet function test for the diagnosis of mild bleeding disorders

Natalia Dovlatova, Marie Lordkipanidzé, Gillian Lowe, +5

Journal of Thrombosis and Haemostasis

ThrombopoiesisThrombosisBlood PlateletStrokeMedicine +8