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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24.
Blood. 2016.
PMID: 26912466
Free article.
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, Simeoni I, Pillois X, Attwood A, Austin S, Jansen SB, Bakchoul T, Crisp-Hihn A, Erber WN, Favier R, Foad N, Gattens M, Jolley JD, Liesner R, Meacham S, Millar CM, Nurden AT, Peerlinck K, Perry DJ, Poudel P, Schulman S, Schulze H, Stephens JC, Furie B, Robinson PN, van Geet C, Rendon A, Gomez K, Laffan MA, Lambert MP, Nurden P, Ouwehand WH, Richardson S, Mumford AD, Freson K; BRIDGE-BPD Consortium.
Westbury SK, et al. Among authors: jansen sb.
Genome Med. 2015 Apr 9;7(1):36. doi: 10.1186/s13073-015-0151-5. eCollection 2015.
Genome Med. 2015.
PMID: 25949529
Free PMC article.
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Transcriptional diversity during lineage commitment of human blood progenitors.
Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, Farrow S, Poudel P, Burden F, Jansen SBG, Astle WJ, Attwood A, Bariana T, de Bono B, Breschi A, Chambers JC, Consortium B, Choudry FA, Clarke L, Coupland P, van der Ent M, Erber WN, Jansen JH, Favier R, Fenech ME, Foad N, Freson K, van Geet C, Gomez K, Guigo R, Hampshire D, Kelly AM, Kerstens HHD, Kooner JS, Laffan M, Lentaigne C, Labalette C, Martin T, Meacham S, Mumford A, Nürnberg S, Palumbo E, van der Reijden BA, Richardson D, Sammut SJ, Slodkowicz G, Tamuri AU, Vasquez L, Voss K, Watt S, Westbury S, Flicek P, Loos R, Goldman N, Bertone P, Read RJ, Richardson S, Cvejic A, Soranzo N, Ouwehand WH, Stunnenberg HG, Frontini M, Rendon A.
Chen L, et al. Among authors: jansen sbg.
Science. 2014 Sep 26;345(6204):1251033. doi: 10.1126/science.1251033.
Science. 2014.
PMID: 25258084
Free PMC article.
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Circular RNAs exhibit limited evidence for translation, or translation regulation of the mRNA counterpart in terminal hematopoiesis.
Nicolet BP, Jansen SBG, Heideveld E, Ouwehand WH, van den Akker E, von Lindern M, Wolkers MC.
Nicolet BP, et al. Among authors: jansen sbg.
RNA. 2022 Feb;28(2):194-209. doi: 10.1261/rna.078754.121. Epub 2021 Nov 3.
RNA. 2022.
PMID: 34732567
Free PMC article.
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MEIS1 regulates early erythroid and megakaryocytic cell fate.
Zeddies S, Jansen SB, di Summa F, Geerts D, Zwaginga JJ, van der Schoot CE, von Lindern M, Thijssen-Timmer DC.
Zeddies S, et al. Among authors: jansen sb.
Haematologica. 2014 Oct;99(10):1555-64. doi: 10.3324/haematol.2014.106567. Epub 2014 Aug 8.
Haematologica. 2014.
PMID: 25107888
Free PMC article.
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