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 …
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 …
Genetic and genomic approaches have implicated hundreds of genetic loci in neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …
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 …
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 …
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 …
Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …
Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been identified. This success, perhaps paradoxically, has posed challenges for therapeutic …
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 …