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Recent Submissions

  • Functionally Conserved Noncoding Regulators of Cardiomyocyte Proliferation and Regeneration in Mouse and Human 

    Adamowicz, Martyna; Morgan, Claire C; Haubner, Bernhard J; Noseda, Michela; Collins, Melissa J; Paiva, Marta Abreu; Srivastava, Prashant K et al.
    BACKGROUND: The adult mammalian heart has little regenerative capacity after myocardial infarction (MI), whereas neonatal mouse heart regenerates without scarring or dysfunction. However, the underlying pathways are poorly ...
  • Clinical Implications of Germline Mutations in Breast Cancer Genes –RECQL 

    Tischkowitz, Marc Derek; bowden, R
    This review describes the prevalence of germline TP53 mutations, the risk of breast cancer and other cancers in mutation carriers and management implications for women with breast cancer and unaffected women.
  • p.Val804Met, the most frequent pathogenic mutation in RET, confers a very low lifetime risk of medullary thyroid cancer 

    Tischkowitz, Marc Derek
    ABSTRACT Context. To date, penetrance figures for medullary thyroid cancer (MTC) for variants in RET have been estimated from families ascertained on account of presence of MTC. Objective. To gain estimates of penetrance ...
  • pedigreejs: a web-based graphical pedigree editor. 

    Carver, Tim; Cunningham, Alex P; Babb de Villiers, Chantal Louiza; Lee, Andrew John; Hartley, Simon; Tischkowitz, Marc Derek; Walter, Fiona Mary et al. (OUP, 2018-03)
    Motivation: The collection, management and visualisation of clinical pedigree (family history) data is a core activity in clinical genetics centres. However, clinical pedigree datasets can be difficult to manage, as they ...

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