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Recent Submissions

  • Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease 

    Webb, TR; Erdmann, J; Stirrups, KE; Stitziel, NO; Masca, NGD; Jansen, H; Kanoni, S et al. (Elsevier, 2017-02-21)
    BACKGROUND: Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or ...
  • A log-likelihood-gain intensity target for crystallographic phasing that accounts for experimental error 

    Read, RJ; McCoy, AJ (International Union of Crystallography, 2016-03-01)
    The crystallographic diffraction experiment measures Bragg intensities; crystallographic electron-density maps and other crystallographic calculations in phasing require structure-factor amplitudes. If data were measured ...
  • Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia 

    Pleines, I; Woods, J; Chappaz, S; Kew, V; Foad, N; Ballester-Beltrán, J; Aurbach, K et al. (American Society for Clinical Investigation, 2017-03-01)
    Platelets are anuclear cells that are essential for blood clotting. They are produced by large polyploid precursor cells called megakaryocytes. Previous genome-wide association studies in nearly 70,000 individuals indicated ...
  • Rare variants in $\textit{GP1BB}$ are responsible for autosomal dominant macrothrombocytopenia 

    Sivapalaratnam, S; Westbury, SK; Stephens, JC; Greene, D; Downes, K; Kelly, AM; Lentaigne, C et al. (American Society of Hematology, 2017-01-26)
    The von Willebrand receptor complex, which is composed of the glycoproteins Ibα, Ibβ, GPV, and GPIX, plays an essential role in the earliest steps in hemostasis. During the last 4 decades, it has become apparent that loss ...

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