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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, SanjeevSergouniotis, Panagiotis ITaylor, Rachel LCarss, Keren JacquelineRaymond, Frances LucyMichaelides, MichelRamsden, Simon CWebster, Andrew RBlack, Graeme CM et al. (2018-02)
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  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, StefaniaRaymond, Frances LucyFroyen, GuyAltmeyer, MatthiasBjørås, MagnarDianov, Grigory Lvan Loon, Barbara et al. (2017-11-08)
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  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, DianaKenneth, NiallWilkinson, SimonPassos, Joao FAttems, JohannesVeal, Elizabeth ATeyssou, ElisaSeilhean, DanielleMillecamps, StéphanieEskelinen, Eeva-LiisaBronowska, Agnieszka KRubinsztein, David ChaimSanz, AlbertoKorolchuk, Viktor I 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 ...
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  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, NicolaAdlard, JulianAylwin, SimonBrennan, PaulBrewer, CaroleCole, TrevorCook, Jackie ADavidson, RosemarieDonaldson, AlanFryer, AlanGreenhalgh, LynnHodgson, Shirley VIrving, RichardLalloo, FionaMcConachie, MichelleMcConnell, Vivienne PMMorrison, Patrick JMurday, VictoriaPark, Soo-MiSimpson, Helen LSnape, KatieStewart, SusanTomkins, Susan EWallis, YvonneIzatt, LouiseGoudie, DavidLindsay, Robert SPerry, Colin GWoodward, Emma RAntoniou, AntonisMaher, Eamonn Richard 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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