Candidate biomarkers in psychiatric disorders: state of the field

A Abi‐Dargham, SJ Moeller, F Ali… - World …, 2023 - Wiley Online Library
The field of psychiatry is hampered by a lack of robust, reliable and valid biomarkers that can
aid in objectively diagnosing patients and providing individualized treatment …

The autism spectrum: behavioral, psychiatric and genetic associations

A Genovese, MG Butler - Genes, 2023 - mdpi.com
Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic
neurobehavioral disorders associated with developmental impairments in social …

A genomic mutational constraint map using variation in 76,156 human genomes

S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai… - Nature, 2024 - nature.com
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature …, 2022 - nature.com
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

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 …

Multi-level analysis of the gut–brain axis shows autism spectrum disorder-associated molecular and microbial profiles

JT Morton, DM **, RH Mills, Y Shao, G Rahman… - Nature …, 2023 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut …

Map** genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

Autism genes converge on asynchronous development of shared neuron classes

B Paulsen, S Velasco, AJ Kedaigle, M Pigoni… - Nature, 2022 - nature.com
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes
spanning a wide range of biological functions,,,,–. The alterations in the human brain …

[HTML][HTML] A disordered region controls cBAF activity via condensation and partner recruitment

A Patil, AR Strom, JA Paulo, CK Collings, KM Ruff… - Cell, 2023 - cell.com
Intrinsically disordered regions (IDRs) represent a large percentage of overall nuclear
protein content. The prevailing dogma is that IDRs engage in non-specific interactions …

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei… - World …, 2023 - Wiley Online Library
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …