Publications

ThromboGenomics primary paper:

Simeoni I. et al. Blood.2016 Apr 15 pii: blood-2015-12-688267
A comprehensive high-throughput sequencing test for the diagnosis of inherited bleeding, thrombotic and platelet disorders.

ThromboGenomics has been cited in the following publications:

Lentaigne et al. Blood, 2016 Apr 19.
Inherited platelet disorders: towards DNA-based diagnosis.

Westbury et al. Genome Medicine, 2015 Apr; 7:36.
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Buitrago L. et al. PNAS.2015 Apr 14;112(15):E1898-907
Predicting variants likely to cause Glanzmann thrombasthenia.

Westbury SK. et al. Genome Med.2015 Apr 9;7(1):36
Human phenotype ontology annotation and cluster analysis.

 

 

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