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 …
Genetic causes and modifiers of autism spectrum disorder
L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
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 …
Mechanisms of synaptic transmission dysregulation in the prefrontal cortex: pathophysiological implications
The prefrontal cortex (PFC) serves as the chief executive officer of the brain, controlling the
highest level cognitive and emotional processes. Its local circuits among glutamatergic …
highest level cognitive and emotional processes. Its local circuits among glutamatergic …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
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) …
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
MJ Gandal, JR Haney, NN Parikshak, V Leppa… - Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart …
pleiotropic genetic architecture. However, little is known about how genetic variants impart …
Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software
In recent years, many software packages for identifying structural variants (SVs) using whole-
genome sequencing data have been released. When published, a new method is commonly …
genome sequencing data have been released. When published, a new method is commonly …
GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability
Cannabis use is a heritable trait that has been associated with adverse mental health
outcomes. In the largest genome-wide association study (GWAS) for lifetime cannabis use to …
outcomes. In the largest genome-wide association study (GWAS) for lifetime cannabis use to …
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
Genome-wide association studies (GWAS) have identified thousands of genetic variants
associated with human complex traits. However, the genes or functional DNA elements …
associated with human complex traits. However, the genes or functional DNA elements …