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Sep 2026

Age-Associated Cognitive Deviations in Early-Onset Psychosis Patients and Their Siblings.

OBJECTIVE The objective of this study was to test for cognitive impairments and cross-sectional age-associated cognitive deviations in a large, diagnostically diverse, cross-sectional sample of children and adolescents with early-onset psychosis (EOP), their siblings, and nonpsychotic psychiatric control participants....

J. Mollon, N. Lanzagorta, Samuel R. Mathias et al. · 0 citations
Open access Aug 2026

Determinants of functional burden pleiotropy and gene dosage responses across human traits

Pleiotropic and monotonic effects of gene dosage are central to understanding comorbidities in developmental pediatric and psychiatric disorders, yet the underlying biological processes are not well characterized. Here we develop a functional burden analysis to investigate the association of all protein-coding copy-num...

Sayeh Kazem, Kuldeep Kumar, J. Yang et al. · 0 citations
Open access Jul 2026

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed.

This work fine-mapped UK Biobank-derived genome-wide association study (GWAS) signals from 164 traits and identified e/sQTL colocalizations for 10,611 GWAS signals, including 7096 that colocalize with secondary e/sQTLs.

Peter Orchard, T. Blackwell, L. Kachuri et al. · 0 citations

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