[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 …
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 …
functional circuits. The faulty assembly or disintegration of such circuits results in disorders …
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
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 …
(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 …
persons from otherwise healthy families. Furthermore, during normal brain development …
Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk
INTRODUCTION Chromosomal conformations, topologically associated chromatin domains
(TADs) assembling in nested fashion across hundreds of kilobases, and other “three …
(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
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
The road to precision psychiatry: translating genetics into disease mechanisms
Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been
identified. This success, perhaps paradoxically, has posed challenges for therapeutic …
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 …
coverage the exomes of families recruited from two populations with distinct demographic …