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Author Details

Daniel Greene
University of Cambridge
2015
23
19
PMIDPaper TitleJournal TitlePublished Year
36928819Genetic association analysis of 77,539 genomes reveals rare disease etiologies.Nat Med2023
34428295MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.Nucleic Acids Res2021
31562665Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.Hum Mutat2020
32693407Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Blood2020
32150607Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.Blood Adv2020
30467204Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.Haematologica2019
31217188Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.Blood2019
31240161A novel missense variant in <i>SLC18A2</i> causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.JIMD Rep2019
31235509Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.J Exp Med2019
31064749Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood2019
29477724Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.J Allergy Clin Immunol2018
29391254Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.J Allergy Clin Immunol2018
28062448ontologyX: a suite of R packages for working with ontological data.Bioinformatics2017
28334266Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.Bioinformatics2017
28669401A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.Am J Hum Genet2017
28637664Expanded repertoire of <i>RASGRP2</i> variants responsible for platelet dysfunction and severe bleeding.Blood2017
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
28064200Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.Blood2017
26924528Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases.Am J Hum Genet2016
26912466A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Blood2016
26936507A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Sci Transl Med2016
27084890A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.Blood2016
25949529Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Genome Med2015
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Collaborators

Icahn School of Medicine at Mount Sinai
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University of Cambridge
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Addenbrooke's Hospital
Co-authored papers 6
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Cambridge University Hospitals NHS Foundation
Co-authored papers 5
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Genomics England Ltd
Co-authored papers 4
University of Cambridge
Co-authored papers 3
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University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 3
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University of Oxford
Co-authored papers 2
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