C. Lentaigne, K. Freson, and M. Laffan, 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

A. Nurden and P. Nurden, 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

P. Gresele and . Subcommittee-on, 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

P. Gresele, P. Harrison, and L. Bury, 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

B. Johnson, G. Lowe, and J. Futterer, 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

S. Fletcher, B. Johnson, and G. Lowe, 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

C. Albers, A. Cvejic, and R. Favier, 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

M. Canault, D. Ghalloussi, and C. Grosdidier, ) 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

H. Kato, Y. Nakazawa, and Y. Kurokawa, 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

M. Lozano, A. Cook, and J. Bastida, Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation

S. Westbury, E. Turro, and D. Greene, 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.

I. Simeoni, J. Stephens, and F. Hu, 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

M. Lek, K. Karczewski, and E. Minikel, 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.

D. Greene, . Nihr-bioresource, S. Richardson, and E. Turro, 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

A. Desai, W. Bergmeier, and M. Canault, 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.

L. Stefanini and W. Bergmeier, 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

T. Kuijpers, E. Van-de-vijver, and M. Weterman, 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

L. Svensson, K. Howarth, and A. Mcdowall, 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.