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Items: 1 to 20 of 209

1.

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, Baccini V, Vidal L, Mezzapesa A, Chelghoum N, Mohand-Oumoussa B, Falaise CL, Favier R, Ouwehand WH, Fiore M, Peiretti F, Morange PE, Saut N, Bernot D, Greinacher A, Nurden AT, Nurden P, Freson K, Trégouët DA, Raslova H, Alessi MC.

Haematologica. 2016 Sep 23. pii: haematol.2016.147694. [Epub ahead of print]

2.

Recruitment and representativeness of blood donors in the INTERVAL randomised trial assessing varying inter-donation intervals.

Moore C, Bolton T, Walker M, Kaptoge S, Allen D, Daynes M, Mehenny S, Sambrook J, Watkins NA, Miflin G, Di Angelantonio E, Ouwehand WH, Roberts DJ, Danesh J, Thompson SG.

Trials. 2016 Sep 20;17(1):458. doi: 10.1186/s13063-016-1579-7.

3.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study, Hurles ME.

Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1.

PMID:
27479907
4.

Saturation analysis for whole-genome bisulfite sequencing data.

Libertini E, Heath SC, Hamoudi RA, Gut M, Ziller MJ, Herrero J, Czyz A, Ruotti V, Stunnenberg HG, Frontini M, Ouwehand WH, Meissner A, Gut IG, Beck S.

Nat Biotechnol. 2016 Jun 27. doi: 10.1038/nbt.3524. [Epub ahead of print] No abstract available.

PMID:
27347755
5.

Information recovery from low coverage whole-genome bisulfite sequencing.

Libertini E, Heath SC, Hamoudi RA, Gut M, Ziller MJ, Czyz A, Ruotti V, Stunnenberg HG, Frontini M, Ouwehand WH, Meissner A, Gut IG, Beck S.

Nat Commun. 2016 Jun 27;7:11306. doi: 10.1038/ncomms11306.

6.

Inherited platelet disorders: toward DNA-based diagnosis.

Lentaigne C, Freson K, Laffan MA, Turro E, Ouwehand WH; BRIDGE-BPD Consortium and the ThromboGenomics Consortium.

Blood. 2016 Jun 9;127(23):2814-23. doi: 10.1182/blood-2016-03-378588. Epub 2016 Apr 19. Review.

7.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.

8.

Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming.

Moreau T, Evans AL, Vasquez L, Tijssen MR, Yan Y, Trotter MW, Howard D, Colzani M, Arumugam M, Wu WH, Dalby A, Lampela R, Bouet G, Hobbs CM, Pask DC, Payne H, Ponomaryov T, Brill A, Soranzo N, Ouwehand WH, Pedersen RA, Ghevaert C.

Nat Commun. 2016 Apr 7;7:11208. doi: 10.1038/ncomms11208.

9.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C; BRIDGE-BPD Consortium, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH.

Sci Transl Med. 2016 Mar 2;8(328):328ra30. doi: 10.1126/scitranslmed.aad7666. Epub 2016 Mar 2.

PMID:
26936507
10.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD.

Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24.

PMID:
26912466
11.

An experimentally validated network of nine haematopoietic transcription factors reveals mechanisms of cell state stability.

Schütte J, Wang H, Antoniou S, Jarratt A, Wilson NK, Riepsaame J, Calero-Nieto FJ, Moignard V, Basilico S, Kinston SJ, Hannah RL, Chan MC, Nürnberg ST, Ouwehand WH, Bonzanni N, de Bruijn MF, Göttgens B.

Elife. 2016 Feb 22;5:e11469. doi: 10.7554/eLife.11469.

12.

A multicenter validation of recombinant β3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia.

Chong W, Turro E, Metcalfe P, Yusuf R, Mérieux Y, Rigal D, Porcelijn L, Huiskes E, Lucas G, Bendukidze N, Green A, Fontão-Wendel R, Husebekk A, Dixey J, Guest A, Mushens R, Ouwehand WH, Navarrete CV.

Transfusion. 2015 Nov;55(11):2742-51. doi: 10.1111/trf.13222. Epub 2015 Jul 14.

PMID:
26173471
13.

Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages.

Christofidou P, Nelson CP, Nikpay M, Qu L, Li M, Loley C, Debiec R, Braund PS, Denniff M, Charchar FJ, Arjo AR, Trégouët DA, Goodall AH, Cambien F, Ouwehand WH, Roberts R, Schunkert H, Hengstenberg C, Reilly MP, Erdmann J, McPherson R, König IR, Thompson JR, Samani NJ, Tomaszewski M.

Am J Hum Genet. 2015 Aug 6;97(2):228-37. doi: 10.1016/j.ajhg.2015.06.001. Epub 2015 Jul 9.

14.

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.

Genome Med. 2015 Apr 9;7(1):36. doi: 10.1186/s13073-015-0151-5. eCollection 2015.

15.

A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis.

Maiwald S, Motazacker MM, van Capelleveen JC, Sivapalaratnam S, van der Wal AC, van der Loos C, Kastelein JJ, Ouwehand WH, Hovingh GK, Trip MD, van Buul JD, Dallinga-Thie GM.

Eur J Hum Genet. 2016 Jan;24(1):86-91. doi: 10.1038/ejhg.2015.70. Epub 2015 Apr 22.

PMID:
25898923
16.

αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.

Buitrago L, Rendon A, Liang Y, Simeoni I, Negri A; ThromboGenomics Consortium, Filizola M, Ouwehand WH, Coller BS.

Proc Natl Acad Sci U S A. 2015 Apr 14;112(15):E1898-907. doi: 10.1073/pnas.1422238112. Epub 2015 Mar 31.

17.

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Benyamin B, Esko T, Ried JS, Radhakrishnan A, Vermeulen SH, Traglia M, Gögele M, Anderson D, Broer L, Podmore C, Luan J, Kutalik Z, Sanna S, van der Meer P, Tanaka T, Wang F, Westra HJ, Franke L, Mihailov E, Milani L, Hälldin J, Winkelmann J, Meitinger T, Thiery J, Peters A, Waldenberger M, Rendon A, Jolley J, Sambrook J, Kiemeney LA, Sweep FC, Sala CF, Schwienbacher C, Pichler I, Hui J, Demirkan A, Isaacs A, Amin N, Steri M, Waeber G, Verweij N, Powell JE, Nyholt DR, Heath AC, Madden PA, Visscher PM, Wright MJ, Montgomery GW, Martin NG, Hernandez D, Bandinelli S, van der Harst P, Uda M, Vollenweider P, Scott RA, Langenberg C, Wareham NJ, van Duijn C, Beilby J, Pramstaller PP, Hicks AA, Ouwehand WH, Oexle K, Gieger C, Metspalu A, Camaschella C, Toniolo D, Swinkels DW, Whitfield JB.

Nat Commun. 2015 Mar 30;6:6542. doi: 10.1038/ncomms7542. No abstract available.

PMID:
25817829
18.

Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation.

Tsaprouni LG, Yang TP, Bell J, Dick KJ, Kanoni S, Nisbet J, Viñuela A, Grundberg E, Nelson CP, Meduri E, Buil A, Cambien F, Hengstenberg C, Erdmann J, Schunkert H, Goodall AH, Ouwehand WH, Dermitzakis E, Spector TD, Samani NJ, Deloukas P.

Epigenetics. 2014 Oct;9(10):1382-96. doi: 10.4161/15592294.2014.969637.

19.

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Benyamin B, Esko T, Ried JS, Radhakrishnan A, Vermeulen SH, Traglia M, Gögele M, Anderson D, Broer L, Podmore C, Luan J, Kutalik Z, Sanna S, van der Meer P, Tanaka T, Wang F, Westra HJ, Franke L, Mihailov E, Milani L, Hälldin J, Winkelmann J, Meitinger T, Thiery J, Peters A, Waldenberger M, Rendon A, Jolley J, Sambrook J, Kiemeney LA, Sweep FC, Sala CF, Schwienbacher C, Pichler I, Hui J, Demirkan A, Isaacs A, Amin N, Steri M, Waeber G, Verweij N, Powell JE, Nyholt DR, Heath AC, Madden PA, Visscher PM, Wright MJ, Montgomery GW, Martin NG, Hernandez D, Bandinelli S, van der Harst P, Uda M, Vollenweider P, Scott RA, Langenberg C, Wareham NJ; InterAct Consortium, van Duijn C, Beilby J, Pramstaller PP, Hicks AA, Ouwehand WH, Oexle K, Gieger C, Metspalu A, Camaschella C, Toniolo D, Swinkels DW, Whitfield JB.

Nat Commun. 2014 Oct 29;5:4926. doi: 10.1038/ncomms5926. Erratum in: Nat Commun. 2015;6:6542. Häldin, Jonas [corrected to Hälldin, Jonas].

20.

Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs.

Adoue V, Schiavi A, Light N, Almlöf JC, Lundmark P, Ge B, Kwan T, Caron M, Rönnblom L, Wang C, Chen SH, Goodall AH, Cambien F, Deloukas P, Ouwehand WH, Syvänen AC, Pastinen T.

Mol Syst Biol. 2014 Oct 16;10:754. doi: 10.15252/msb.20145114.

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