Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos, +24

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicinePathogenesisPathology +5

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

Mice Lacking the ITIM-Containing Receptor G6b-B Exhibit Macrothrombocytopenia and Aberrant Platelet Function

Alexandra Mazharian, Ying-Jie Wang, Jun Mori, +12

Science Signaling

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

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

Blerida Banushi, Federico Forneris, Anna Straatman-Iwanowska, +27

Nature Communications

Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

Vincenzo Leo, Neil V. Morgan, Danai Bem, +9

Journal of Thrombosis and Haemostasis

Platelet BiologyThrombosisEpidemiologyNext‐generation SequencingUnderlying Defects +11

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay

Marie Lordkipanidzé, Gillian Lowe, Nicholas S. Kirkby, +12

Blood

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

Danai Bem, Holly Smith, Blerida Banushi, +11

Blood