Selected recent publications
2016
- Astle et al. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease Cell 2016;167
- Moreau T et al. Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming Nature Communications 2016;7:11208
- Turro E. et al. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. Science Translational Medicine 2016.
- Greene D. et al. Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. American Journal of Human Genetics 2016.
- Stritt S. et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood 2016.
2015
- Chong W. et al. A multicenter validation of recombinant β3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia. Transfusion 2015.
- Westbury S.K. et al. Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. Genome Medicine 2015;7:36.
- Maiwald S. et al. A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis. European Journal of Human Genetics 2015.
- Jänes J., Hu F., Lewin A. and Turro E. A comparative study of RNA-seq analysis strategies. Briefings in Bioinformatics 2015.
2014
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Guerrero, J.A. et al. Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice. Blood 2014; 124(24):3624-35.
- Chen, L. et al. Transcriptional diversity during lineage commitment of human blood progenitors. Science 2014; 345(6204):1251033.
- Kohler, S. et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Research 2014; 42: D966–D974.
- Bielczyk-Maczyńska E. et al., A Loss of Function Screen of Identified Genome-Wide Association Study Loci Reveals New Genes Controlling Hematopoiesis. PLoS Genetics 10(7); e1004450.
- Turro E, Astle WJ, Tavaré S. Flexible analysis of RNA-seq data using mixed effects models. Bioinformatics. 2014 Jan; 30(2):180-188.
2013
- Cvejic A, Haer-Wigman L, Stephens JC, et al. SMIM1 underlies the Vel blood group and influences red blood cell traits. Nature Genetics 2013;45(5):542–545.
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Paul, D. S. et al. Maps of open chromatin highlight cell type–restricted patterns of regulatory sequence variation at hematological trait loci. Genome Research 2013; 23:1130–1141.
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Ghevaert, C. et al. Recombinant HPA-1a antibody therapy for treatment of fetomaternal alloimmune thrombocytopenia: proof of principle in human volunteers. Blood 2013; 122:313–320.
2012
- van der Harst P, Zhang W, Mateo Leach I, et al. Seventy-five genetic loci influencing the human red blood cell. Nature. 2012;492(7429):369–375.
- Albers CA, Paul DS, Schulze H, et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nature Genetics 2012;44(4):435–9, S1–2.
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Nürnberg, S. T. et al. A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site. Blood 120, 4859–4868.
2011
- Gieger C, Radhakrishnan A, Cvejic A, et al. New gene functions in megakaryopoiesis and platelet formation. Nature. 2011;480(7376):201–208.
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Albers, C. A. et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nature Genetics 43, 735–737.