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| 36928819 | Genetic association analysis of 77,539 genomes reveals rare disease etiologies. | Nat Med | 2023 |
| 37647652 | A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk. | Blood | 2023 |
| 36928819 | Genetic association analysis of 77,539 genomes reveals rare disease etiologies. | Nat Med | 2023 |
| 37647652 | A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk. | Blood | 2023 |
| 32703790 | Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas. | Haematologica | 2021 |
| 32703790 | Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas. | Haematologica | 2021 |
| 33413557 | NRG1 fusions in breast cancer. | Breast Cancer Res | 2021 |
| 34428295 | MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases. | Nucleic Acids Res | 2021 |
| 34428295 | MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases. | Nucleic Acids Res | 2021 |
| 33413557 | NRG1 fusions in breast cancer. | Breast Cancer Res | 2021 |
| 31562665 | Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. | Hum Mutat | 2020 |
| 31562665 | Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. | Hum Mutat | 2020 |
| 32150607 | Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia. | Blood Adv | 2020 |
| 32693407 | Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. | Blood | 2020 |
| 32573726 | Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. | Blood | 2020 |
| 32663190 | A coagulation defect arising from heterozygous premature termination of tissue factor. | J Clin Invest | 2020 |
| 32693407 | Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. | Blood | 2020 |
| 32663190 | A coagulation defect arising from heterozygous premature termination of tissue factor. | J Clin Invest | 2020 |
| 32573726 | Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. | Blood | 2020 |
| 32150607 | Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia. | Blood Adv | 2020 |
| 30467204 | Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. | Haematologica | 2019 |
| 31888698 | mRNA structural elements immediately upstream of the start codon dictate dependence upon eIF4A helicase activity. | Genome Biol | 2019 |
| 30573501 | Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses. | Haematologica | 2019 |
| 30467204 | Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. | Haematologica | 2019 |
| 31235509 | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. | J Exp Med | 2019 |
| 31123110 | Germline selection shapes human mitochondrial DNA diversity. | Science | 2019 |
| 31217188 | Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. | Blood | 2019 |
| 31064749 | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | Blood | 2019 |
| 31240161 | A novel missense variant in <i>SLC18A2</i> causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. | JIMD Rep | 2019 |
| 31888698 | mRNA structural elements immediately upstream of the start codon dictate dependence upon eIF4A helicase activity. | Genome Biol | 2019 |
| 31217188 | Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. | Blood | 2019 |
| 31240161 | A novel missense variant in <i>SLC18A2</i> causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. | JIMD Rep | 2019 |
| 31235509 | Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. | J Exp Med | 2019 |
| 31123110 | Germline selection shapes human mitochondrial DNA diversity. | Science | 2019 |
| 31064749 | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | Blood | 2019 |
| 30573501 | Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses. | Haematologica | 2019 |
| 29477724 | Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. | J Allergy Clin Immunol | 2018 |
| 30171045 | <i>GNE</i> variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting. | Blood | 2018 |
| 30213874 | A mutation of the human <i>EPHB2</i> gene leads to a major platelet functional defect. | Blood | 2018 |
| 30503262 | Transcription Factor Levels after Forward Programming of Human Pluripotent Stem Cells with GATA1, FLI1, and TAL1 Determine Megakaryocyte versus Erythroid Cell Fate Decision. | Stem Cell Reports | 2018 |
| 29898956 | Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. | Blood | 2018 |
| 29391254 | Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome. | J Allergy Clin Immunol | 2018 |
| 29477724 | Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. | J Allergy Clin Immunol | 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 |
| 30171045 | <i>GNE</i> variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting. | Blood | 2018 |
| 30503262 | Transcription Factor Levels after Forward Programming of Human Pluripotent Stem Cells with GATA1, FLI1, and TAL1 Determine Megakaryocyte versus Erythroid Cell Fate Decision. | Stem Cell Reports | 2018 |
| 29391254 | Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome. | J Allergy Clin Immunol | 2018 |
| 28062448 | ontologyX: a suite of R packages for working with ontological data. | Bioinformatics | 2017 |
| 28637664 | Expanded repertoire of <i>RASGRP2</i> variants responsible for platelet dysfunction and severe bleeding. | Blood | 2017 |