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  • Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. 

    Ellingford, Jamie M; Horn, Bradley; Campbell, Christopher; Arno, Gavin; Barton, Stephanie; Tate, Catriona; Bhaskar, Sanjeev et al. (2018-02)
  • Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. 

    Bosshard, Matthias; Aprigliano, Rossana; Gattiker, Cristina; Palibrk, Vuk; Markkanen, Enni; Hoff Backe, Paul; Pellegrino, Stefania et al. (2017-11-08)
  • Oxidation of SQSTM1/p62 mediates the link between redox state and protein homeostasis. 

    Carroll, Bernadette; Otten, Elsje G; Manni, Diego; Stefanatos, Rhoda; Menzies, Fiona M; Smith, Graham R; Jurk, Diana et al. (Springer Nature, 2018-01-17)
    Cellular homeostatic pathways such as macroautophagy (hereinafter autophagy) are regulated by basic mechanisms that are conserved throughout the eukaryotic kingdom. However, it remains poorly understood how these mechanisms ...
  • Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. 

    Andrews, Katrina; Ascher, David Benjamin; Pires, Douglas Eduardo Valente; Barnes, Daniel Robert; Vialard, Lindsey; Casey, Ruth T; Bradshaw, Nicola et al. (British Medical Association, 2018-01-31)
    Background:Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum ...

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