Schizophrenia genomics: genetic complexity and functional insights

PF Sullivan, S Yao, J Hjerling-Leffler - Nature Reviews Neuroscience, 2024 - nature.com
Determining the causes of schizophrenia has been a notoriously intractable problem,
resistant to a multitude of investigative approaches over centuries. In recent decades …

[HTML][HTML] Molecular mechanisms of schizophrenia: Insights from human genetics

Z Farsi, M Sheng - Current Opinion in Neurobiology, 2023 - Elsevier
Schizophrenia is a debilitating psychiatric disorder that affects millions of people worldwide;
however, its etiology is poorly understood at the molecular and neurobiological levels. A …

Transcriptional linkage analysis with in vivo AAV-Perturb-seq

AJ Santinha, E Klingler, M Kuhn, R Farouni, S Lagler… - Nature, 2023 - nature.com
The ever-growing compendium of genetic variants associated with human pathologies
demands new methods to study genotype–phenotype relationships in complex tissues in a …

The molecular pathology of schizophrenia: An overview of existing knowledge and new directions for future research

T Nakamura, A Takata - Molecular Psychiatry, 2023 - nature.com
Despite enormous efforts employing various approaches, the molecular pathology in the
schizophrenia brain remains elusive. On the other hand, the knowledge of the association …

Thalamocortical organoids enable in vitro modeling of 22q11. 2 microdeletion associated with neuropsychiatric disorders

D Shin, CN Kim, J Ross, KM Hennick, SR Wu… - Cell Stem Cell, 2024 - cell.com
Thalamic dysfunction has been implicated in multiple psychiatric disorders. We sought to
study the mechanisms by which abnormalities emerge in the context of the 22q11. 2 …

Recent developments in autism genetic research: A scientometric review from 2018 to 2022

M Lim, A Carollo, D Dimitriou, G Esposito - Genes, 2022 - mdpi.com
Genetic research in Autism Spectrum Disorder (ASD) has progressed tremendously in
recent decades. Dozens of genetic loci and hundreds of alterations in the genetic sequence …

Neurodevelopmental disturbances in schizophrenia: evidence from genetic and environmental factors

A Schmitt, P Falkai, S Papiol - Journal of neural transmission, 2023 - Springer
Since more than 3 decades, schizophrenia (SZ) has been regarded as a
neurodevelopmental disorder. The neurodevelopmental hypothesis proposes that SZ is …

Neurocognitive profiles of 22q11. 2 and 16p11. 2 deletions and duplications

RC Gur, CE Bearden, S Jacquemont, A Swillen… - Molecular …, 2024 - nature.com
Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11. 2 and 16p11. 2
are genetic disorders with lifespan risk for neuropsychiatric disorders. Microdeletions and …

[HTML][HTML] Recommendations, guidelines, and best practice for the use of human induced pluripotent stem cells for neuropharmacological studies of neuropsychiatric …

LD Polit, I Eidhof, RV McNeill, KM Warre-Cornish… - Neuroscience …, 2023 - Elsevier
The number of individuals suffering from neuropsychiatric disorders (NPDs) has increased
worldwide, with 3 million disability-adjusted life-years calculated in 2019. Though research …

Strategies for dissecting the complexity of neurodevelopmental disorders

J Sun, S Noss, D Banerjee, M Das, S Girirajan - Trends in Genetics, 2024 - cell.com
Neurodevelopmental disorders (NDDs) are associated with a wide range of clinical features,
affecting multiple pathways involved in brain development and function. Recent advances in …