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| 38016518 | Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework. | J Thromb Haemost | 2024 |
| 38016518 | Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework. | J Thromb Haemost | 2024 |
| 36928819 | Genetic association analysis of 77,539 genomes reveals rare disease etiologies. | Nat Med | 2023 |
| 35638552 | Loss of APOLD1: a new vascular bleeding disorder? | Haematologica | 2023 |
| 37647632 | The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140â¿¿214 UK Biobank participants. | Blood | 2023 |
| 37199157 | Genetic Modifiers of Antihrombin, Protein C, and Protein S Plasma Levels. | Arterioscler Thromb Vasc Biol | 2023 |
| 36696193 | Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience. | J Thromb Haemost | 2023 |
| 36737374 | Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021Â Oct;19(10):2612-2617]. | J Thromb Haemost | 2023 |
| 36928819 | Genetic association analysis of 77,539 genomes reveals rare disease etiologies. | Nat Med | 2023 |
| 36790527 | Ribosome dysfunction underlies SLFN14-related thrombocytopenia. | Blood | 2023 |
| 37647632 | The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140â¿¿214 UK Biobank participants. | Blood | 2023 |
| 35638552 | Loss of APOLD1: a new vascular bleeding disorder? | Haematologica | 2023 |
| 37199157 | Genetic Modifiers of Antihrombin, Protein C, and Protein S Plasma Levels. | Arterioscler Thromb Vasc Biol | 2023 |
| 36790527 | Ribosome dysfunction underlies SLFN14-related thrombocytopenia. | Blood | 2023 |
| 36696193 | Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience. | J Thromb Haemost | 2023 |
| 36737374 | Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021Â Oct;19(10):2612-2617]. | J Thromb Haemost | 2023 |
| 34781376 | F11 Gene Duplication Causes Elevated FXI Plasma Levels and Is a Risk for Venous Thrombosis. | Thromb Haemost | 2022 |
| 36245319 | Diagnostic value of multigene sequencing for inherited thrombocytopenia. | Br J Haematol | 2022 |
| 35971883 | Methylome analysis for haemophilia A intron 22 inversion patients with and without inhibitors: A pilot study. | Haemophilia | 2022 |
| 36291092 | A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger. | Cells | 2022 |
| 35886993 | The Analysis of the Human Megakaryocyte and Platelet Coding Transcriptome in Healthy and Diseased Subjects. | Int J Mol Sci | 2022 |
| 33616470 | A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. | Platelets | 2022 |
| 34781376 | F11 Gene Duplication Causes Elevated FXI Plasma Levels and Is a Risk for Venous Thrombosis. | Thromb Haemost | 2022 |
| 35971883 | Methylome analysis for haemophilia A intron 22 inversion patients with and without inhibitors: A pilot study. | Haemophilia | 2022 |
| 36245319 | Diagnostic value of multigene sequencing for inherited thrombocytopenia. | Br J Haematol | 2022 |
| 35886993 | The Analysis of the Human Megakaryocyte and Platelet Coding Transcriptome in Healthy and Diseased Subjects. | Int J Mol Sci | 2022 |
| 36291092 | A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger. | Cells | 2022 |
| 33616470 | A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. | Platelets | 2022 |
| 34355501 | GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. | J Thromb Haemost | 2021 |
| 34296056 | Illustrated State-of-the-Art Capsules of the ISTH 2020 Congress. | Res Pract Thromb Haemost | 2021 |
| 33901316 | Macrothrombocytopenia and stomatocytosis in sitosterolaemia. | Br J Haematol | 2021 |
| 34348454 | Combined transcriptome and proteome profiling of SRC kinase activity in healthy and E527K defective megakaryocytes. | Haematologica | 2021 |
| 34355501 | GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. | J Thromb Haemost | 2021 |
| 33496739 | Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel. | Blood Adv | 2021 |
| 34580997 | Consensus recommendations on flow cytometry for the assessment of inherited and acquired disorders of platelet number and function: Communication from the ISTH SSC Subcommittee on Platelet Physiology. | J Thromb Haemost | 2021 |
| 34964017 | Hemostatic phenotypes and genetic disorders. | Res Pract Thromb Haemost | 2021 |
| 34546355 | The brain-derived neurotrophic factor prompts platelet aggregation and secretion. | Blood Adv | 2021 |
| 34476343 | The EHA Research Roadmap: Platelet Disorders. | Hemasphere | 2021 |
| 33901316 | Macrothrombocytopenia and stomatocytosis in sitosterolaemia. | Br J Haematol | 2021 |
| 33496739 | Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel. | Blood Adv | 2021 |
| 34964017 | Hemostatic phenotypes and genetic disorders. | Res Pract Thromb Haemost | 2021 |
| 34580997 | Consensus recommendations on flow cytometry for the assessment of inherited and acquired disorders of platelet number and function: Communication from the ISTH SSC Subcommittee on Platelet Physiology. | J Thromb Haemost | 2021 |
| 34546355 | The brain-derived neurotrophic factor prompts platelet aggregation and secretion. | Blood Adv | 2021 |
| 34476343 | The EHA Research Roadmap: Platelet Disorders. | Hemasphere | 2021 |
| 34348454 | Combined transcriptome and proteome profiling of SRC kinase activity in healthy and E527K defective megakaryocytes. | Haematologica | 2021 |
| 34296056 | Illustrated State-of-the-Art Capsules of the ISTH 2020 Congress. | Res Pract Thromb Haemost | 2021 |
| 31562665 | Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. | Hum Mutat | 2020 |
| 32139434 | Glanzmann thrombasthenia: genetic basis and clinical correlates. | Haematologica | 2020 |
| 31793234 | Autosomal dominant macrothrombocytopenia caused by a rare GPIBB variant: The importance of DNA sequencing. | Int J Lab Hematol | 2020 |
| 31562665 | Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. | Hum Mutat | 2020 |