List of works - Sarah K. Westbury

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

scientific article

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

scientific article

A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency

scientific article published on 07 July 2020

ACTN1 variants associated with thrombocytopenia

scientific article

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.

scientific article published on 19 July 2016

Chorein detection for the diagnosis of chorea-acanthocytosis

scientific article published on August 2004

Dysfunction of the PI3 kinase/Rap1/integrin α(IIb)β(3) pathway underlies ex vivo platelet hypoactivity in essential thrombocythemia

scientific article published on 13 December 2012

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

scientific article published on 21 June 2017

FLNA variants associated with disorders of platelet number or function

scientific article published on 17 April 2020

Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders

scientific article published on 30 April 2019

Genomics of platelet disorders

scientific article

Giant cell granuloma with aneurysmal bone cyst change within the mandible during pregnancy: a management dilemma

scientific article published on 6 August 2010

High haematocrit in cyanotic congenital heart disease affects how fibrinogen activity is determined by rotational thromboelastometry.

scientific article published on 30 July 2013

How should we test for nonsevere heritable platelet function disorders?

scientific article published on June 2014

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

scientific article published on 9 April 2015

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

scientific article published on 20 December 2018

Matching surgical operating capacity to demand using estimates of operating times.

scientific article

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia

scientific article published on 01 March 2020

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

scientific article

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

scientific article published on 15 October 2019

Operating room efficiency in the National Health Service

scientific article published on 01 July 2007

Partial deletion of the αC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis

article

Phenotype description and response to thrombopoietin receptor agonist in -related disorder

scientific article published on 01 September 2018

Protease-Activated Receptor 4 Variant p.Tyr157Cys Reduces Platelet Functional Responses and Alters Receptor Trafficking

scientific article published on 10 March 2016

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

scientific article published on 14 November 2016

TUBB1 variants and human platelet traits

scientific article published on 15 January 2018

The concept of surgical operating list 'efficiency': a formula to describe the term.

scientific article

Transcriptional diversity during lineage commitment of human blood progenitors

scientific article

List of works by Sarah K. Westbury

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency

ACTN1 variants associated with thrombocytopenia

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.

Chorein detection for the diagnosis of chorea-acanthocytosis

Dysfunction of the PI3 kinase/Rap1/integrin α(IIb)β(3) pathway underlies ex vivo platelet hypoactivity in essential thrombocythemia

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

FLNA variants associated with disorders of platelet number or function

Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders

Genomics of platelet disorders

Giant cell granuloma with aneurysmal bone cyst change within the mandible during pregnancy: a management dilemma

High haematocrit in cyanotic congenital heart disease affects how fibrinogen activity is determined by rotational thromboelastometry.

How should we test for nonsevere heritable platelet function disorders?

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

Matching surgical operating capacity to demand using estimates of operating times.

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

Operating room efficiency in the National Health Service

Partial deletion of the αC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis

Phenotype description and response to thrombopoietin receptor agonist in -related disorder

Protease-Activated Receptor 4 Variant p.Tyr157Cys Reduces Platelet Functional Responses and Alters Receptor Trafficking

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

TUBB1 variants and human platelet traits

The concept of surgical operating list 'efficiency': a formula to describe the term.

Transcriptional diversity during lineage commitment of human blood progenitors