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| 37349339 | NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells. | | 2023 |
| 35924408 | Clonal evolution in hereditary thrombocytosis with MPL T487A mutation. | Pediatr Blood Cancer | 2023 |
| 37406166 | Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41. | Blood Adv | 2023 |
| 36819173 | Germline variants in paediatric patients in a French specialised centre. | | 2023 |
| 36923710 | Mutations in Neurobeachin-like 2 do not impact Weibel-Palade body biogenesis and von Willebrand factor secretion in gray platelet syndrome Endothelial Colony Forming Cells. | | 2023 |
| 35186246 | A thrombopoietin receptor agonist to rescue an unusual platelet transfusion-induced reaction in a p.V1316M-associated von Willebrand disease type 2B patient. | Therapeutic Advances in Hematology | 2022 |
| 35395613 | A promising treatment to optimize delivery management in a pregnant woman with inherited thrombocytopenia: thrombopoietin-receptor agonist administration. | International Journal of Obstetric Anesthesia | 2022 |
| 36243576 | Tranexamic acid dose-response relationship for antifibrinolysis in postpartum haemorrhage during Caesarean delivery: TRACES, a double-blind, placebo-controlled, multicentre, dose-ranging biomarker study. | British Journal of Anaesthesia | 2022 |
| 34407546 | Inferring the dynamics of mutated hematopoietic stem and progenitor cells induced by IFNα in myeloproliferative neoplasms. | Blood | 2021 |
| 34233450 | The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy. | Haematologica | 2021 |
| 34010413 | CALR mutant protein rescues the response of MPL p.R464G variant associated with CAMT to eltrombopag. | Blood | 2021 |
| 33475155 | Assessing bleeding risk in 18 children with Osteogenesis imperfecta. | British Journal of Haematology | 2021 |
| 33496751 | Neutrophil specific granule and NETosis defects in gray platelet syndrome. | Blood Adv | 2021 |
| 33147934 | Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy. | Haematologica | 2021 |
| 32987389 | Eltrombopag for the Treatment of Severe Inherited Thrombocytopenia. | Acta Haematologica | 2021 |
| 31502501 | Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation. | Platelets | 2020 |
| 31567472 | Assessment of Coagulation by Thromboelastography During Ongoing Postpartum Hemorrhage: A Retrospective Cohort Analysis. | Anesthesia and Analgesia | 2020 |
| 31558677 | Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study. | Haematologica | 2020 |
| 32693407 | Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. | Blood | 2020 |
| 31217188 | Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. | Blood | 2019 |
| 31723833 | Germline <i>RUNX1</i> Intragenic Deletion: Implications for Accurate Diagnosis of FPD/AML. | Hemasphere | 2019 |
| 30602618 | Disrupted filamin A/αβ interaction induces macrothrombocytopenia by increasing RhoA activity. | Blood | 2019 |
| 30545930 | Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia. | Haematologica | 2019 |
| 30573501 | Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses. | Haematologica | 2019 |
| 30977588 | Progressive pigmented purpuric dermatosis and platelet delta storage pool deficiency in a child. | Pediatric Blood and Cancer | 2019 |
| 30916803 | MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane. | American Journal of Hematology | 2019 |
| 29090484 | Mutations of the integrin αIIb/β3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet α-granules. | American Journal of Hematology | 2018 |
| 28795988 | Eltrombopag to Treat Thrombocytopenia During Last Month of Pregnancy in a Woman With MYH9-Related Disease: A Case Report. | A&A practice | 2018 |
| 30213874 | A mutation of the human <i>EPHB2</i> gene leads to a major platelet functional defect. | Blood | 2018 |
| 29898956 | Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. | Blood | 2018 |
| 29985732 | Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease. | Platelets | 2018 |
| 29187380 | Nbeal2 interacts with Dock7, Sec16a, and Vac14. | Blood | 2018 |
| 27663637 | Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. | Haematologica | 2017 |
| 28385783 | Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. | Haematologica | 2017 |
| 28979237 | Identification of R102P Mutation in Hereditary Thrombocytosis. | Frontiers in Endocrinology | 2017 |
| 28698781 | Idiopathic Pulmonary Embolism in a case of Severe Family ANKRD26 Thrombocytopenia. | Mediterranean Journal of Hematology and Infectious Diseases | 2017 |
| 28562514 | ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia. | Journal of Pediatric Hematology/Oncology | 2017 |
| 27997762 | Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0. | J Cell Mol Med | 2017 |
| 27534895 | Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia. | Nature Communications | 2016 |
| 27112265 | Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders. | Orphanet J Rare Dis | 2016 |
| 27020697 | Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture. | Nat Commun | 2016 |
| 26912466 | A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. | Blood | 2016 |
| 27084890 | A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. | Blood | 2016 |
| 26936507 | A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. | Sci Transl Med | 2016 |
| 26316320 | Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. | Leukemia | 2016 |
| 26450985 | Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients. | Blood | 2016 |
| 28034873 | An incomplete trafficking defect to the cell-surface leads to paradoxical thrombocytosis for human and murine MPL P106L. | Blood | 2016 |
| 25977585 | Platelet glycoprotein VI binds to polymerized fibrin and promotes thrombin generation. | Blood | 2015 |
| 25490895 | Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia. | Blood | 2015 |
| 25902755 | Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene. | European Journal of Pediatrics | 2015 |