[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 …

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 …

Understanding axon guidance: are we nearly there yet?

ET Stoeckli - Development, 2018 - journals.biologists.com
During nervous system development, neurons extend axons to reach their targets and form
functional circuits. The faulty assembly or disintegration of such circuits results in disorders …

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

NN Parikshak, MJ Gandal, DH Geschwind - Nature Reviews Genetics, 2015 - nature.com
Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …

[PDF][PDF] Comparative analyses of copy-number variation in autism spectrum disorder and schizophrenia reveal etiological overlap and biological insights

I Kushima, B Aleksic, M Nakatochi, T Shimamura… - Cell reports, 2018 - cell.com
Compelling evidence in Caucasian populations suggests a role for copy-number variations
(CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 …

[HTML][HTML] Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

S Gulsuner, T Walsh, AC Watts, MK Lee, AM Thornton… - Cell, 2013 - cell.com
Genes disrupted in schizophrenia may be revealed by de novo mutations in affected
persons from otherwise healthy families. Furthermore, during normal brain development …

Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk

P Rajarajan, T Borrman, W Liao, N Schrode, E Flaherty… - Science, 2018 - science.org
INTRODUCTION Chromosomal conformations, topologically associated chromatin domains
(TADs) assembling in nested fashion across hundreds of kilobases, and other “three …

[PDF][PDF] Genetic control of expression and splicing in developing human brain informs disease mechanisms

RL Walker, G Ramaswami, C Hartl, N Mancuso… - Cell, 2019 - cell.com
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …

The road to precision psychiatry: translating genetics into disease mechanisms

MJ Gandal, V Leppa, H Won, NN Parikshak… - Nature …, 2016 - nature.com
Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been
identified. This success, perhaps paradoxically, has posed challenges for therapeutic …

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

B Xu, I Ionita-Laza, JL Roos, B Boone, S Woodrick… - Nature …, 2012 - nature.com
To evaluate evidence for de novo etiologies in schizophrenia, we sequenced at high
coverage the exomes of families recruited from two populations with distinct demographic …