The schizophrenia syndrome, circa 2024: What we know and how that informs its nature

R Tandon, H Nasrallah, S Akbarian… - Schizophrenia …, 2024 - Elsevier
With new data about different aspects of schizophrenia being continually generated, it
becomes necessary to periodically revisit exactly what we know. Along with a need to review …

Genomic findings in schizophrenia and their implications

MJ Owen, SE Legge, E Rees, JTR Walters… - Molecular …, 2023 - nature.com
There has been substantial progress in understanding the genetics of schizophrenia over
the past 15 years. This has revealed a highly polygenic condition with the majority of the …

[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 …

Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain

A Bhattacharya, DD Vo, C Jops, M Kim, C Wen… - Nature Genetics, 2023 - nature.com
Methods integrating genetics with transcriptomic reference panels prioritize risk genes and
mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance …

Rediscovering tandem repeat variation in schizophrenia: challenges and opportunities

R Birnbaum - Translational Psychiatry, 2023 - nature.com
Tandem repeats (TRs) are prevalent throughout the genome, constituting at least 3% of the
genome, and often highly polymorphic. The high mutation rate of TRs, which can be orders …

Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes

EA Maury, A Jones, V Seplyarskiy, TTL Nguyen… - Science, 2024 - science.org
Germline mutations modulate the risk of developing schizophrenia (SCZ). Much less is
known about the role of mosaic somatic mutations in the context of SCZ. Deep (239×) whole …

A burden of rare copy number variants in obsessive-compulsive disorder

MW Halvorsen, E de Schipper, J Bäckman… - Molecular …, 2024 - nature.com
Current genetic research on obsessive-compulsive disorder (OCD) supports contributions to
risk specifically from common single nucleotide variants (SNVs), along with rare coding …

[HTML][HTML] SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases

MA Colijn, P Carrion, G Poirier-Morency… - Progress in Neuro …, 2024 - Elsevier
Objective SETD1A encodes a histone methyltransferase involved in various cell cycle
regulatory processes. Loss-of-function SETD1A variants have been associated with …

Large-scale neurophysiology and single-cell profiling in human neuroscience

AT Lee, EF Chang, MF Paredes, TJ Nowakowski - Nature, 2024 - nature.com
Advances in large-scale single-unit human neurophysiology, single-cell RNA sequencing,
spatial transcriptomics and long-term ex vivo tissue culture of surgically resected human …

Rare coding variants in schizophrenia-associated genes affect generalised cognition in the UK Biobank

E Fenner, P Holmans, MC O'Donovan, MJ Owen… - medRxiv, 2023 - medrxiv.org
Impairments in cognitive function are a feature of schizophrenia that strongly predict
functional outcome and are generally not improved by current medications. However, the …