Synaptic dysregulation in a human iPS cell model of mental disorders

Z Wen, HN Nguyen, Z Guo, MA Lalli, X Wang, Y Su… - Nature, 2014 - nature.com
Dysregulated neurodevelopment with altered structural and functional connectivity is
believed to underlie many neuropsychiatric disorders, and 'a disease of synapses' is the …

PSD95: A synaptic protein implicated in schizophrenia or autism?

AA Coley, WJ Gao - Progress in Neuro-Psychopharmacology and …, 2018 - Elsevier
The molecular components of the postsynaptic density (PSD) in excitatory synapses of the
brain are currently being investigated as one of the major etiologies of neurodevelopmental …

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

DM Werling, H Brand, JY An, MR Stone, L Zhu… - Nature …, 2018 - nature.com
Genomic association studies of common or rare protein-coding variation have established
robust statistical approaches to account for multiple testing. Here we present a comparable …

CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder

GE Hoffman, J Bendl, G Voloudakis, KS Montgomery… - Scientific data, 2019 - nature.com
Schizophrenia and bipolar disorder are serious mental illnesses that affect more than 2% of
adults. While large-scale genetics studies have identified genomic regions associated with …

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

C Redin, H Brand, RL Collins, T Kammin, E Mitchell… - Nature …, 2017 - nature.com
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …

Population structure in genetic studies: Confounding factors and mixed models

JH Sul, LS Martin, E Eskin - PLoS genetics, 2018 - journals.plos.org
A genome-wide association study (GWAS) seeks to identify genetic variants that contribute
to the development and progression of a specific disease. Over the past 10 years, new …

The fourth law of behavior genetics

CF Chabris, JJ Lee, D Cesarini… - Current directions in …, 2015 - journals.sagepub.com
Behavior genetics is the study of the relationship between genetic variation and
psychological traits. proposed “Three Laws of Behavior Genetics” based on empirical …

[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 …

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

JA Kosmicki, KE Samocha, DP Howrigan, SJ Sanders… - Nature …, 2017 - nature.com
Recent research has uncovered an important role for de novo variation in
neurodevelopmental disorders. Using aggregated data from 9,246 families with autism …

[PDF][PDF] Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome

F Birey, MY Li, A Gordon, MV Thete, AM Valencia… - Cell Stem Cell, 2022 - cell.com
Defects in interneuron migration can disrupt the assembly of cortical circuits and lead to
neuropsychiatric disease. Using forebrain assembloids derived by integration of cortical and …