Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
SH Lelieveld, MRF Reijnders, R Pfundt… - Nature …, 2016 - nature.com
To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …
Transcriptome and epigenome landscape of human cortical development modeled in organoids
INTRODUCTION The human cerebral cortex has undergone an extraordinary increase in
size and complexity during mammalian evolution. Cortical cell lineages are specified in the …
size and complexity during mammalian evolution. Cortical cell lineages are specified in the …
Maternal immune activation and abnormal brain development across CNS disorders
I Knuesel, L Chicha, M Britschgi, SA Schobel… - Nature Reviews …, 2014 - nature.com
Epidemiological studies have shown a clear association between maternal infection and
schizophrenia or autism in the progeny. Animal models have revealed maternal immune …
schizophrenia or autism in the progeny. Animal models have revealed maternal immune …
Genome sequencing identifies major causes of severe intellectual disability
C Gilissen, JY Hehir-Kwa, DT Thung, M Van De Vorst… - Nature, 2014 - nature.com
Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …
Gene expression elucidates functional impact of polygenic risk for schizophrenia
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
De novo mutations in schizophrenia implicate synaptic networks
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …
Genetics and genomics of psychiatric disease
DH Geschwind, J Flint - Science, 2015 - science.org
Large-scale genomic investigations have just begun to illuminate the molecular genetic
contributions to major psychiatric illnesses, ranging from small-effect-size common variants …
contributions to major psychiatric illnesses, ranging from small-effect-size common variants …
[HTML][HTML] Disruptive CHD8 mutations define a subtype of autism early in development
Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …
Mapping DNA methylation across development, genotype and schizophrenia in the human frontal cortex
DNA methylation (DNAm) is important in brain development and is potentially important in
schizophrenia. We characterized DNAm in prefrontal cortex from 335 non-psychiatric …
schizophrenia. We characterized DNAm in prefrontal cortex from 335 non-psychiatric …