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

  Stritt, S; Nurden, P; Turro, Ernest; Greene, D; Jansen, SB; Westbury, SK; Petersen, RAstle, William JohnMarlin, SBariana, TKKostadima, MLentaigne, CMaiwald, SPapadia, SofiaKelly, AMStephens, JCPenkett, CJAshford, STuna, SalihAustin, SBakchoul, TCollins, PFavier, RLambert, MPMathias, MMillar, CMMapeta, RPerry, David JamesSchulman, SSimeoni, IThys, CBRIDGE-BPD Consortium,Gomez, KErber, WNStirrups, Kathleen ElizabethRendon, Cesar AugustoBradley, Johnvan Geet, CRaymond, Frances LucyLaffan, MANurden, ATNieswandt, BRichardson, Sylvia ThereseFreson, KOuwehand, Willem HendrikMumford, AD et al. (American Society of Hematology, 2016-06-09)

  Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. In most MTP, this phenotype arises because ...
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  A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases 

  Greene, Daniel; NIHR BioResource,; Richardson, Sylvia Therese; Turro, Ernest (Elsevier, 2017-07-06)

  We present a rapid and powerful inference procedure for identifying loci associated with rare hereditary disorders using Bayesian model comparison. Under a baseline model, disease risk is fixed across all individuals in a ...
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  HGVA: the Human Genome Variation Archive. 

  Lopez, Javier; Coll, Jacobo; Haimel, Matthias; Kandasamy, Swaathi; Tarraga, Joaquin; Furio-Tari, Pedro; Bari, WasimBleda, MartaRueda, AntonioGräf, Stefan AndreasRendon, Cesar AugustoDopazo, JoaquinMedina, Ignacio et al. (2017-05-23)
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  Platelet function is modified by common sequence variation in megakaryocyte super enhancers 

  Petersen, R; Lambourne, John Joseph; Javierre, BM; Grassi, Luigi; Kreuzhuber, R; Ruklisa, Dace; Rosa, IMTomé, ARElding, Hvan Geffen, JPJiang, TFarrow, SCairns, JAl-Subaie, AMAshford, SAttwood, ABatista, JBouman, HBurden, FChoudry, FAClarke, LFlicek, PGarner, SFHaimel, MatthiasKempster, CLadopoulos, VLenaerts, A-SMaterek, PMMcKinney, HMeacham, SMead, DNagy, MPenkett, CJRendon, Cesar AugustoSeyres, DSun, BTuna, Salihvan der Weide, M-EWingett, SWMartens, JHStegle, ORichardson, Sylvia ThereseVallier, LudovicRoberts, DJFreson, KWernisch, LStunnenberg, HGDanesh, JFraser, PSoranzo, NicoleButterworth, Adam StuartHeemskerk, JWTurro, ErnestSpivakov, MOuwehand, Willem HendrikAstle, William JohnDownes, KateKostadima, MFrontini, Mattia et al. (Springer Nature, 2017-07-13)

  Linking non-coding genetic variants associated with the risk of diseases or disease-relevant traits to target genes is a crucial step to realize GWAS potential in the introduction of precision medicine. Here we set out to ...

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