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Lista de obras de Sarah K. Westbury

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.

scientific article published on 19 July 2016

Chorein detection for the diagnosis of chorea-acanthocytosis

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

FLNA variants associated with disorders of platelet number or function

artículo científico publicado en 2020

Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders

scientific article published on 30 April 2019

Genomics of platelet disorders

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

How should we test for nonsevere heritable platelet function disorders?

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia

artículo científico publicado en 2020

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

artículo científico publicado en 2016

TUBB1 variants and human platelet traits

artículo científico publicado en 2018

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

artículo científico publicado en 2007

Transcriptional diversity during lineage commitment of human blood progenitors

artículo científico publicado en 2014

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