Genetic architecture of schizophrenia: a review of major advancements

SE Legge, ML Santoro, S Periyasamy… - Psychological …, 2021 - cambridge.org
Schizophrenia is a severe psychiatric disorder with high heritability. Consortia efforts and
technological advancements have led to a substantial increase in knowledge of the genetic …

Toward recovery in schizophrenia: Current concepts, findings, and future research directions

T Onitsuka, Y Hirano, T Nakazawa… - Psychiatry and …, 2022 - Wiley Online Library
Schizophrenia was initially defined as “dementia praecox” by E. Kraepelin, which implies
progressive deterioration. However, recent studies have revealed that early effective …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

DS Palmer, DP Howrigan, SB Chapman, R Adolfsson… - Nature …, 2022 - nature.com
We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome
sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We …

[PDF][PDF] Changes in genome architecture and transcriptional dynamics progress independently of sensory experience during post-natal brain development

L Tan, W Ma, H Wu, Y Zheng, D Xing, R Chen, X Li… - Cell, 2021 - cell.com
Both transcription and three-dimensional (3D) architecture of the mammalian genome play
critical roles in neurodevelopment and its disorders. However, 3D genome structures of …

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

T Singh, BM Neale, MJ Daly - MedRxiv, 2020 - medrxiv.org
By meta-analyzing the whole-exomes of 24,248 cases and 97,322 controls, we implicate
ultra-rare coding variants (URVs) in ten genes as conferring substantial risk for …

Distorted neurocomputation by a small number of extra-large spines in psychiatric disorders

K Obi-Nagata, N Suzuki, R Miyake, ML MacDonald… - Science …, 2023 - science.org
Human genetics strongly support the involvement of synaptopathy in psychiatric disorders.
However, trans-scale causality linking synapse pathology to behavioral changes is lacking …

Coexpression network architecture reveals the brain-wide and multiregional basis of disease susceptibility

CL Hartl, G Ramaswami, WG Pembroke, S Muller… - Nature …, 2021 - nature.com
Gene networks have yielded numerous neurobiological insights, yet an integrated view
across brain regions is lacking. We leverage RNA sequencing in 864 samples representing …

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability

T Bae, L Fasching, Y Wang, JH Shin, M Suvakov… - Science, 2022 - science.org
We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with
schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to …

Exome sequencing in obsessive–compulsive disorder reveals a burden of rare damaging coding variants

M Halvorsen, J Samuels, Y Wang, BD Greenberg… - Nature …, 2021 - nature.com
Obsessive–compulsive disorder (OCD) affects 1–2% of the population, and, as with other
complex neuropsychiatric disorders, it is thought that rare variation contributes to its genetic …