Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

DP Howrigan, SA Rose, KE Samocha, M Fromer… - Nature …, 2020 - nature.com
… Protein-coding de novo mutations (DNMs) are significant risk factors in many neurodevelopmental
disorders, whereas schizophrenia (SCZ) risk associated with DNMs has thus far been …

[HTML][HTML] How do established developmental risk-factors for schizophrenia change the way the brain develops?

DW Eyles - Translational Psychiatry, 2021 - nature.com
… with schizophrenia more closely resemble the foetal state 44 . … and axonogenesis in the
human prefrontal cortex (PFC) 58 . … crosstalk between de novo gene methylation and foetal brain …

[HTML][HTML] Cross-disorder analysis of de novo mutations in neuropsychiatric disorders

K Li, Z Fang, G Zhao, B Li, C Chen, L Xia… - Journal of Autism and …, 2022 - Springer
… dorsolateral prefrontal cortex, VFC ventrolateral prefrontal … , STC superior temporal cortex,
ITC inferior temporal cortex, V1C … in the human brain during the fetal period (described above), …

[HTML][HTML] Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

DM Werling, S Pochareddy, J Choi, JY An, B Sheppard… - Cell reports, 2020 - cell.com
… Expression levels of more than 12,000 genes rise or fall in a concerted late-fetal transition,
with the transitional genes enriched for cell-type-specific genes and neuropsychiatric risk loci, …

[HTML][HTML] A maturational shift in the frontal cortex synaptic transcriptional landscape underlies schizophrenia-relevant behavioural traits: A congenital rat model

M Sønderstrup, MY Batiuk, P Mantas… - European …, 2023 - Elsevier
… of the prefrontal cortex in schizophrenia patient tissue … origin of schizophrenia in the Roman
rat strains, we mapped the … human samples, ranging from foetal development (negative ages…

[HTML][HTML] Schizophrenia genomics: convergence on synaptic development, adult synaptic plasticity, or both?

J Hall, NJ Bray - Biological Psychiatry, 2022 - Elsevier
de novo mutations in the disorder were most significantly coexpressed in the frontal cortex
during fetal … of the corresponding genes in the prefrontal cortex during the second trimester of …

[HTML][HTML] Single-nuclei RNA sequencing of 5 regions of the human prenatal brain implicates developing neuron populations in genetic risk for schizophrenia

D Cameron, D Mi, NN Vinh, C Webber, M Li, O Marín… - Biological …, 2023 - Elsevier
… for each fetal brain cell population. The function map.snps.to.genes was run to map single
… genetic association with schizophrenia in cells of the second-trimester fetal brain, we first …

[HTML][HTML] Temporal dynamics of miRNAs in human DLPFC and its association with miRNA dysregulation in schizophrenia

Z Hu, S Gao, D Lindberg, D Panja… - Translational …, 2019 - nature.com
… in the human dorsolateral prefrontal cortex (DLPFC), and the … a wave of change in fetuses,
most miRNAs are preferentially … We selected only the de novo mutations from patients and …

[HTML][HTML] Human-specific evolutionary markers linked to foetal neurodevelopment modulate brain surface area in schizophrenia

M Guardiola-Ripoll, C Almodóvar-Payá… - Communications …, 2023 - nature.com
… available foetal tissues (E081=foetal brain female and E082 = foetal … inferior temporal lobe
and E073 = brain dorsolateral prefrontal … The 3D chromatin interaction mapping was built-in …

[HTML][HTML] De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application

W Wang, R Corominas, GN Lin - Frontiers in genetics, 2019 - frontiersin.org
… In particular, the extensive usage of WES in research studies has uncovered the important
contribution of de novo mutations (DNMs) to these disorders. Trio and quad familial WES are …