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Recent Submissions

  • Particle MCMC algorithms and architectures for accelerating inference in state-space models 

    Mingas, G; Bottolo, L; Bouganis, CS (Elsevier, 2016-05-15)
    Particle Markov Chain Monte Carlo (pMCMC) is a stochastic algorithm designed to generate samples from a probability distribution, when the density of the distribution does not admit a closed form expression. pMCMC is most ...
  • Genetically diagnosed Birt–Hogg–Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report 

    Whitworth, James; Stausbøl-Grøn, Brian; Skytte, Anne-Bine (Springer, 2016-10-08)
    When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence ...
  • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing 

    Easton, Douglas F; Lesueur, Fabienne; Decker, Brennan; Michailidou, Kyriaki; Li, Jun; Allen, Jamie; Luccarini, Craig et al. (BMJ Group, 2016-02-26)
    Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and ...
  • Phenotype, Cancer Risk, and Surveillance in Beckwith–Wiedemann Syndrome Depending on Molecular Genetic Subgroups 

    Maas, Saskia M.; Vansenne, Fleur; Kadouch, Daniel J. M.; Ibrahim, Abdulla; Bliek, Jet; Hopman, Saskia; Mannens, Marcel M. et al. (Wiley, 2016-07-15)
    Patients with Beckwith–Wiedemann syndrome (BWS) have an increased risk to develop cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending on the cause of BWS. We obtained clinical and ...

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