Author details

Full Name

Sarah K Westbury

Affiliation

ORCID

Career Start Year

2004

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37816352	Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.	Am J Hum Genet	2023
35325493	Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.	Journal of Thrombosis and Haemostasis	2022
35187641	Inherited platelet disorders: From new variants to new knowledge.	British Journal of Haematology	2022
33496739	Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.	Blood Adv	2021
33791497	Haematology morphology teaching during the COVID-19 pandemic: a UK teaching hospital experience.		2021
32150607	MonoallelicÂ loss-of-function THPOÂ variants cause heritable thrombocytopenia.	Blood Adv	2020
32299270	<i>FLNA</i> variants associated with disorders of platelet number or function.	Platelets	2020
31562665	Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.	Hum Mutat	2020
31041802	Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders.	Semin Thromb Hemost	2019
30573501	Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.	Haematologica	2019
29333906	TUBB1 variants and human platelet traits.	Platelets	2018
30232087	Phenotype description and response to thrombopoietin receptor agonist in <i>DIAPH1</i>-related disorder.	Blood Adv	2018
28134622	Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.	J Clin Invest	2017
28856919	ACTN1 variants associated with thrombocytopenia.	Platelets	2017
28637664	Expanded repertoire of <i>RASGRP2</i> variants responsible for platelet dysfunction and severe bleeding.	Blood	2017
28064200	Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.	Blood	2017
26936507	A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.	Sci Transl Med	2016
27436851	Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.	Blood	2016
26966273	Protease-Activated Receptor 4 Variant p.Tyr157Cys Reduces Platelet Functional Responses and Alters Receptor Trafficking.	Arterioscler Thromb Vasc Biol	2016
26912466	A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.	Blood	2016
27405671	Genomics of platelet disorders.	Haemophilia	2016
27084890	A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.	Blood	2016
25949529	Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.	Genome Med	2015
24750679	How should we test for nonsevere heritable platelet function disorders?	Int J Lab Hematol	2014
25258084	Transcriptional diversity during lineage commitment of human blood progenitors.	Science	2014
23243278	Dysfunction of the PI3 kinase/Rap1/integrin Î±(IIb)Î²(3) pathway underlies ex vivo platelet hypoactivity in essential thrombocythemia.	Blood	2013
23906940	High haematocrit in cyanotic congenital heart disease affects how fibrinogen activity is determined by rotational thromboelastometry.	Thromb Res	2013
24048413	Partial deletion of the Î±C-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis.	Thromb Haemost	2013
20692086	Giant cell granuloma with aneurysmal bone cyst change within the mandible during pregnancy: a management dilemma.	Journal of Oral and Maxillofacial Surgery	2011
19862882	Matching surgical operating capacity to demand using estimates of operating times.	Journal of Health Organization and Management	2009
17579004	Operating room efficiency in the National Health Service.	Anesthesia and Analgesia	2007
17697215	The concept of surgical operating list 'efficiency': a formula to describe the term.	Anaesthesia	2007
15293285	Chorein detection for the diagnosis of chorea-acanthocytosis.	Ann Neurol	2004