Inherited platelet disorders: toward DNA-based diagnosis, Blood, vol.127, issue.23, pp.2814-2823, 2016. ,
DOI : 10.1182/blood-2016-03-378588
URL : http://www.bloodjournal.org/content/bloodjournal/127/23/2814.full.pdf
Inherited disorders of platelet function: selected updates, Journal of Thrombosis and Haemostasis, vol.124, issue.Suppl. 1, pp.2-9, 2015. ,
DOI : 10.1182/blood-2014-04-572479
Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH, Journal of Thrombosis and Haemostasis, vol.10, issue.2, pp.314-322, 2015. ,
DOI : 10.1111/j.1538-7836.2012.04805.x
Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey, Journal of Thrombosis and Haemostasis, vol.10, issue.9, pp.1562-1569, 2014. ,
DOI : 10.1111/j.1538-7836.2012.04805.x
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects, Haematologica, vol.101, issue.10, pp.1170-1179, 2016. ,
DOI : 10.3324/haematol.2016.146316
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects, Journal of Clinical Investigation, vol.125, issue.9, pp.3600-3605, 2015. ,
DOI : 10.1172/JCI80347
URL : http://www.jci.org/articles/view/80347/files/pdf
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome, Nature Genetics, vol.20, issue.8, pp.735-737, 2011. ,
DOI : 10.1186/1471-2261-8-6
) mutation affects platelet function and causes severe bleeding, The Journal of Experimental Medicine, vol.96, issue.7, pp.1349-1362, 2014. ,
DOI : 10.1074/jbc.M111.239608
URL : http://jem.rupress.org/content/jem/211/7/1349.full.pdf
Human CalDAG-GEFI deficiency increases bleeding and delays ??IIb??3 activation, Blood, vol.128, issue.23, pp.2729-2733, 2016. ,
DOI : 10.1182/blood-2016-03-704825
Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation ,
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders, Genome Medicine, vol.109, issue.1, p.36, 2015. ,
DOI : 10.1182/blood-2006-05-021105.
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders, Blood, vol.127, issue.23, pp.2791-2803, 2016. ,
DOI : 10.1182/blood-2015-12-688267
URL : https://hal.archives-ouvertes.fr/hal-01478129
Analysis of protein-coding genetic variation in 60,706 humans For personal use only, Genome Biol. Nature, vol.17536, issue.17616, pp.122-15285, 2016. ,
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases, The American Journal of Human Genetics, vol.101, issue.1, p.2017 ,
DOI : 10.1016/j.ajhg.2017.05.015
Phenotype analysis and clinical management in a large family with a novel truncating mutation in RASGRP2, the CalDAG-GEFI encoding gene. RPTH A general framework for estimating the relative pathogenicity of human genetic variants, Nat Genet, vol.46, issue.3, pp.310-315, 2014. ,
RAP1-GTPase signaling and platelet function, Journal of Molecular Medicine, vol.10, issue.Pt 3 ,
DOI : 10.1371/journal.pgen.1004420
URL : http://europepmc.org/articles/pmc4707086?pdf=render
LAD-1/variant syndrome is caused by mutations in FERMT3, La Revue de M??decine Interne, vol.30, pp.4740-4746, 2009. ,
DOI : 10.1016/S0248-8663(09)72101-0
Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation Expanding the mutation spectrum affecting alphaIIbbeta3 integrin in Glanzmann thrombasthenia: screening of the ITGA2B and ITGB3 genes in a large international cohort For personal use only, Nat Med. Hum Mutat, vol.1536, issue.35, pp.306-312548, 2009. ,