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) …
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
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] Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …
Autism genes converge on asynchronous development of shared neuron classes
B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
spanning a wide range of biological functions,,,,–. The alterations in the human brain …
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …
[HTML][HTML] A transcription factor atlas of directed differentiation
Transcription factors (TFs) regulate gene programs, thereby controlling diverse cellular
processes and cell states. To comprehensively understand TFs and the programs they …
processes and cell states. To comprehensively understand TFs and the programs they …
[HTML][HTML] Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
AM Valencia, A Sankar, PJ van der Sluijs… - Nature Genetics, 2023 - nature.com
DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …
wide range of genetic determinants. However, a comprehensive analysis of these data, in …
New and emerging approaches to treat psychiatric disorders
Psychiatric disorders are highly prevalent, often devastating diseases that negatively impact
the lives of millions of people worldwide. Although their etiological and diagnostic …
the lives of millions of people worldwide. Although their etiological and diagnostic …