Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

G Genovese, M Fromer, EA Stahl, DM Ruderfer… - Nature …, 2016 - nature.com
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 …

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 …

Transcriptome and epigenome landscape of human cortical development modeled in organoids

A Amiri, G Coppola, S Scuderi, F Wu, T Roychowdhury… - Science, 2018 - science.org
INTRODUCTION The human cerebral cortex has undergone an extraordinary increase in
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 …

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 …

Gene expression elucidates functional impact of polygenic risk for schizophrenia

M Fromer, P Roussos, SK Sieberts, JS Johnson… - Nature …, 2016 - nature.com
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …

De novo mutations in schizophrenia implicate synaptic networks

M Fromer, AJ Pocklington, DH Kavanagh, HJ Williams… - Nature, 2014 - nature.com
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 …

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 …

[HTML][HTML] Disruptive CHD8 mutations define a subtype of autism early in development

R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe… - Cell, 2014 - cell.com
Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …

Mapping DNA methylation across development, genotype and schizophrenia in the human frontal cortex

AE Jaffe, Y Gao, A Deep-Soboslay, R Tao… - Nature …, 2016 - nature.com
DNA methylation (DNAm) is important in brain development and is potentially important in
schizophrenia. We characterized DNAm in prefrontal cortex from 335 non-psychiatric …