Aug 2026· Molecular Psychiatry· 0 citations· 60 references
Medicine
TL;DR
This work delivers the most thorough delineation of BD-associated CNVs in Han Chinese to date, underscoring the imperative for ancestry-inclusive research to comprehensively unravel psychiatric genomics and unveiling fresh mechanistic perspectives on BD etiology.
A significantly elevated genome-wide rare CNV burden in EAS cases compared with controls is observed, underscoring the importance of increasing population diversity to fully capture the genetic underpinnings of schizophrenia.
Yu Chen, Qi-Di Feng, Max Lam et al.· Nature Genetics· 0 citations
Increased CNV burden, in both number and cumulative genomic size, co-occurred more frequently in individuals with severe phenotypes, including ASD with intellectual disability, epilepsy, and broader NDDs, reflecting a real-world clinical setting rather than a prospectively recruited research cohort.
M. R. Di Iorio, Ilaria La Monica, Antonio Imperatore et al.· International Journal of Mol...· 0 citations
It is concluded that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 duplication as a strong AD-risk-decreasing factor increase AD risk and Conversely, 22q11.21 duplication as a strong AD-risk-decreasing factor is identified.
O. Quenez, Catherine Schramm, K. Cassinari et al.· American Journal of Human Ge...· 1 citation
CNVs carriers with TRS had a higher prevalence of early NDDs compared to non-CNV controls, particularly in learning disabilities, and Prospective studies are needed to elucidate the mechanisms linking CNVs, neurodevelopmental phenotypes, and disease progression in treatment resistant schizophrenia.
Wenxin Bian, R. Xavier, T. Dietterich et al.· Biological Research for Nurs...· 0 citations
Describing all 16,138 copy number variants found in 3832 patients studied from 2009 to 2024 prompted the description of all CNV findings with patient profiles is needed to optimize CMA potential for presymptomatic diagnosis and therapy.
Santosh Chaval, Sahil S. Tonk, Golder N. Wilson et al.· Current Issues in Molecular...· 0 citations
This study provides the first comprehensive genomic overview of ASD in a large Brazilian cohort, reinforcing the critical need to include diversely admixed populations in genomic research to expand the understanding of ASD architecture and improve diagnostic strategies in resource-limited settings.
Gabriele da Silva Campos, C. I. S. Costa, J. Wang et al.· Genetics and Molecular Biolo...· 0 citations
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