Publications by authors named "J M Sobell"

In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole genome sequencing of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study).

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Event-related potentials (ERPs) are small voltage changes in the brain that reliably occur in response to auditory or visual stimuli. ERPs have been extensively studied in both humans and animals to identify biomarkers, test pharmacological agents, and generate testable hypotheses about the physiological and genetic basis of schizophrenia. In this chapter, we discuss how ERPs are generated and recorded as well as review canonical ERP components in the context of schizophrenia research in humans.

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Article Synopsis
  • * Researchers discovered 287 genomic regions associated with schizophrenia, emphasizing genes specifically active in excitatory and inhibitory neurons, and identified 120 key genes potentially responsible for these associations.
  • * The findings highlight important biological processes related to neuronal function, suggesting overlaps between common and rare genetic variants in both schizophrenia and neurodevelopmental disorders, ultimately aiding future research on these conditions.
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Article Synopsis
  • A meta-analysis of whole exomes from 24,248 schizophrenia cases and 97,322 controls identified ultra-rare coding variants (URVs) linked to schizophrenia risk across 10 significant genes.
  • Some of these genes are heavily expressed in the brain and are involved in synapse formation, pointing to a connection between glutamate system dysfunction and schizophrenia.
  • Additionally, there's an overlap in rare variant risks shared with other disorders like autism and epilepsy, suggesting that both common and rare genetic factors contribute to the same biological processes underlying schizophrenia.
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