Mechanisms governing activity-dependent synaptic pruning in the developing mammalian CNS
TE Faust, G Gunner, DP Schafer - Nature Reviews Neuroscience, 2021 - nature.com
Almost 60 years have passed since the initial discovery by Hubel and Wiesel that changes
in neuronal activity can elicit developmental rewiring of the central nervous system (CNS) …
in neuronal activity can elicit developmental rewiring of the central nervous system (CNS) …
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
[HTML][HTML] Single-cell epigenomics reveals mechanisms of human cortical development
During mammalian development, differences in chromatin state coincide with cellular
differentiation and reflect changes in the gene regulatory landscape. In the developing brain …
differentiation and reflect changes in the gene regulatory landscape. In the developing brain …
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
Improving polygenic prediction in ancestrally diverse populations
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …
existing genome-wide association studies (GWAS) have been conducted predominantly in …
Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
Risk prediction of late-onset Alzheimer's disease implies an oligogenic architecture
Genetic association studies have identified 44 common genome-wide significant risk loci for
late-onset Alzheimer's disease (LOAD). However, LOAD genetic architecture and prediction …
late-onset Alzheimer's disease (LOAD). However, LOAD genetic architecture and prediction …
Treatment resistance in psychiatry: state of the art and new directions
OD Howes, ME Thase, T Pillinger - Molecular psychiatry, 2022 - nature.com
Abstract Treatment resistance affects 20–60% of patients with psychiatric disorders; and is
associated with increased healthcare burden and costs up to ten-fold higher relative to …
associated with increased healthcare burden and costs up to ten-fold higher relative to …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …