Clinical features of UK Biobank subjects carrying protein-truncating variants in genes implicated in schizophrenia pathogenesis

D Curtis - Psychiatric Genetics, 2022 - journals.lww.com
Objective The SCHEMA consortium has identified 10 genes in which protein-truncating
variants (PTVs) confer a substantial risk of schizophrenia. This study aimed to determine …

Rare schizophrenia risk variant burden is conserved in diverse human populations

D Liu, D Meyer, B Fennessy, C Feng, E Cheng… - medRxiv, 2022 - medrxiv.org
Schizophrenia is a chronic mental illness that is amongst the most debilitating conditions
encountered in medical practice. A recent landmark schizophrenia study of the protein …

Using brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia

YHH Hsu, E Nacu, R Liu, G Pintacuda, A Kim, K Tsafou… - medRxiv, 2021 - medrxiv.org
Genetics have nominated many schizophrenia risk genes that lack functional interpretation.
To empower such interpretation, we executed interaction proteomics for six risk genes in …

[HTML][HTML] Rare pathogenic variants in genes implicated in glutamatergic neurotransmission pathway segregate with schizophrenia in Pakistani families

A Fatima, U Abdullah, M Farooq, Y Mang… - Genes, 2021 - mdpi.com
Schizophrenia is a disabling neuropsychiatric disorder of adulthood onset with high
heritability. Worldwide collaborations have identified an association of~ 270 common loci …

Network signature of complement component 4 variation in the human brain identifies convergent molecular risk for schizophrenia

M Kim, JR Haney, P Zhang, LM Hernandez, L Wang… - bioRxiv, 2020 - biorxiv.org
Genome-wide association studies have successfully identified hundreds of genomic regions
associated with schizophrenia (SCZ). Subsequent fine-mapping of the strongest association …

Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease

D Curtis - medRxiv, 2023 - medrxiv.org
An important issue pertinent to the analysis of sequence data to detect association between
rare variants in a gene and a given phenotype is the ability to annotate nonsynonymous …

What have we learned about the genetics of obsessive-compulsive and related disorders in recent years?

M Mattheisen, MT Pato, CN Pato, JA Knowles - Focus, 2021 - Am Psychiatric Assoc
Obsessive-compulsive disorder (OCD) is a complex, multifactorial disorder with onset in
either childhood or early adulthood. Lifetime prevalence has been estimated to be around …

[HTML][HTML] Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes

S Ganesh, A Vemula, S Bhattacharjee, K Mathew… - Scientific Reports, 2022 - nature.com
Abstract Whole Exome Sequencing (WES) studies provide important insights into the
genetic architecture of serious mental illness (SMI). Genes that are central to the shared …

Rare Maternally Inherited Coding Variants on Chromosome X Carry Predominantly Male Risk in Autism, Tourette Syndrome, and Attention-deficit/Hyperactivity …

S Wang, B Wang, V Drury, S Drake, N Sun, H Alkhairo… - medRxiv, 2022 - medrxiv.org
Autism spectrum disorders (ASD), Tourette syndrome (TS), and attention-deficit/hyperactivity
disorder (ADHD) display strong male sex bias, due to a combination of genetic and …

[HTML][HTML] Integrative analysis identified key schizophrenia risk factors from an abnormal behavior mouse gene set

M Chen, W Wang, W Song, W Qian, GN Lin - Life, 2021 - mdpi.com
Schizophrenia (SCZ) is a severe chronic psychiatric illness with heterogeneous symptoms.
However, the pathogenesis of SCZ is unclear, and the number of well-defined SCZ risk …