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:
Westbury et al. Blood, 2017 Jun 21
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Sivapalaratnam et al. Blood, 2017 Jan 26;129(4):520-524
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
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.
ThromboGenomics has been cited in the following bulletin/newletters: