Alternative splicing as a regulator of development and tissue identity
FE Baralle, J Giudice - Nature reviews Molecular cell biology, 2017 - nature.com
Alternative splicing of eukaryotic transcripts is a mechanism that enables cells to generate
vast protein diversity from a limited number of genes. The mechanisms and outcomes of …
vast protein diversity from a limited number of genes. The mechanisms and outcomes of …
[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
PF Sullivan, DH Geschwind - Cell, 2019 - cell.com
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions
Major depression is a debilitating psychiatric illness that is typically associated with low
mood and anhedonia. Depression has a heritable component that has remained difficult to …
mood and anhedonia. Depression has a heritable component that has remained difficult to …
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …
Advancing the understanding of autism disease mechanisms through genetics
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …
fueled remarkable advances in our understanding of its potential neurobiological …
Predicting the sequence specificities of DNA-and RNA-binding proteins by deep learning
Knowing the sequence specificities of DNA-and RNA-binding proteins is essential for
developing models of the regulatory processes in biological systems and for identifying …
developing models of the regulatory processes in biological systems and for identifying …
A compendium of RNA-binding motifs for decoding gene regulation
RNA-binding proteins are key regulators of gene expression, yet only a small fraction have
been functionally characterized. Here we report a systematic analysis of the RNA motifs …
been functionally characterized. Here we report a systematic analysis of the RNA motifs …
A highly conserved program of neuronal microexons is misregulated in autistic brains
Alternative splicing (AS) generates vast transcriptomic and proteomic complexity. However,
which of the myriad of detected AS events provide important biological functions is not well …
which of the myriad of detected AS events provide important biological functions is not well …