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Article
Domains of genome-wide gene expression dysregulation in Down’s syndrome
Trisomy 21 is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic variability, we studied the transcript...
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Article
Correction: Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome
Nature 508, 345–350 (2014); doi:10.1038/nature13200 Owing to a labelling error in the input files, one of the two replicate data sets used for Fig. 5d and e and Supplementary Fig. 6d of this Article was incorr...
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Article
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma
Sergey Nikolaev, Stylianos Antonarakis and colleagues analyze the genetic architecture of 293 basal cell carcinomas (BCCs) and characterize their mutational landscape. They observe UV signature mutations and i...
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Article
Building an international consortium for tracking coronavirus health status
We call upon the research community to standardize efforts to use daily self-reported data about COVID-19 symptoms in the response to the pandemic and to form a collaborative consortium to maximize global gain...
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Article
Publisher Correction: Building an international consortium for tracking coronavirus health status
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessIntegrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments. Here we employ multi-la...
