• Using SNP-chips to detect very rare pathogenic variants: retrospective population-based diagnostic evaluation 

  Weedon, MN; Jackson, L; Harrison, JW; et al. (BMJ Publishing Group, 2021)

  Objective: To determine whether the sensitivity and specificity of SNP-chips are adequate for detecting rare pathogenic variants in a clinically unselected population. Design: We compared genotypes from SNP-chips (index ...

• Hemochromatosis Mutations, Brain Iron Imaging, and Dementia in the UK Biobank Cohort 

  Atkins, JL; Pilling, LC; Heales, CJ; et al. (IOS Press, 3 January 2021)

  Background: Brain iron deposition occurs in dementia. In European ancestry populations, the HFE p.C282Y variant can cause iron overload and hemochromatosis, mostly in homozygous males. Objective: To estimated p.C282Y ...

• Role of the cation-chloride-cotransporters in the circadian system 

  Salihu, S; Azlan, NFM; Josiah, SS; et al. (Elsevier / Shenyang Pharmaceutical University, 7 December 2020)

  The circadian system plays an immense role in controlling physiological processes in our body. The suprachiasmatic nucleus (SCN) supervises this system, regulating and harmonising the circadian rhythms in our body. Most ...

• 'Not at the diagnosis point': Dealing with contradiction in autism assessment teams 

  Hayes, J; McCabe, R; Ford, T; et al. (Elsevier, 19 October 2020)

  Social science literature has documented how the concept of diagnosis can be seen as an interactive process, imbued with uncertainty and contradiction, which undermines a straightforward notion of diagnosis as a way to ...

• The neuropeptide Pth2 dynamically senses others via mechanosensation 

  Anneser, L; Alcantara, IC; Gemmer, A; et al. (Nature Research, 2 December 2020)

  Species that depend on membership in social groups for survival exhibit changes in neuronal gene expression and behaviour when they face restricted social interactions or isolation1,2,3. Here we show that, across the ...

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