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 …
[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic
A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …
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 …
Comprehensive functional genomic resource and integrative model for the human brain
INTRODUCTION Strong genetic associations have been found for a number of psychiatric
disorders. However, understanding the underlying molecular mechanisms remains …
disorders. However, understanding the underlying molecular mechanisms remains …
Validity and utility of hierarchical taxonomy of psychopathology (HiTOP): I. Psychosis superspectrum
The Hierarchical Taxonomy of Psychopathology (HiTOP) is a scientific effort to address
shortcomings of traditional mental disorder diagnoses, which suffer from arbitrary …
shortcomings of traditional mental disorder diagnoses, which suffer from arbitrary …
Mapping and characterization of structural variation in 17,795 human genomes
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …
[PDF][PDF] Synaptic neurexin complexes: a molecular code for the logic of neural circuits
TC Südhof - Cell, 2017 - cell.com
Synapses are specialized junctions between neurons in brain that transmit and compute
information, thereby connecting neurons into millions of overlapping and interdigitated …
information, thereby connecting neurons into millions of overlapping and interdigitated …
[PDF][PDF] Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes
DM Ruderfer, S Ripke, A McQuillin, J Boocock… - Cell, 2018 - cell.com
Schizophrenia and bipolar disorder are two distinct diagnoses that share symptomology.
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …
Understanding the genetic factors contributing to the shared and disorder-specific symptoms …
[PDF][PDF] 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 …
Genetic insights into the neurodevelopmental origins of schizophrenia
R Birnbaum, DR Weinberger - Nature Reviews Neuroscience, 2017 - nature.com
Schizophrenia is a severe neuropsychiatric disorder with a longstanding history of
neurobiological investigation. Although the underlying causal mechanisms remain …
neurobiological investigation. Although the underlying causal mechanisms remain …