Anna C. Need

TL;DR: In this article, the authors evaluated the performance of the Genomics England 100,000 Genomes Project (100kGP) panel-based pipelines, using craniosynostosis as a test disease.

TL;DR: Leveraging the joint genetic correlations of cognitive ability, education, and schizophrenia, two distinct biological mechanisms are dissociate: early neurodevelopmental pathways that characterize concordant allelic variation, and adulthood synaptic pruning pathways that were linked to the paradoxical positive genetic association between education and schizophrenia.

TL;DR: Enhanced functional connectivity of the MTLs with the posterior cingulate in young adult 34 carriers suggests that APOE may be expressed early in brain regions known to be involved in Alzheimer’s disease, long before late-onset dementia is a practical risk or consideration.

TL;DR: Christina M. Lill, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this article.

TL;DR: In this paper , a systematic literature search for reports of individuals with germline pathogenic variants in two or more cancer susceptibility genes (CSGs) was performed and a subset of cases presented unusual multiple tumour phenotypes.