The X chromosome's influences on the human brain.

Genes on the X chromosome are extensively expressed in the human brain. However, little is known for the X chromosome's impact on the brain anatomy, microstructure, and functional networks. We examined 1045 complex brain imaging traits from 38,529 participants in the UK Biobank.

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.

Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.

Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.

Massively parallel reporter assay investigates shared genetic variants of eight psychiatric disorders.

A meta-genome-wide association study across eight psychiatric disorders has highlighted the genetic architecture of pleiotropy in major psychiatric disorders. However, mechanisms underlying pleiotropic effects of the associated variants remain to be explored. We conducted a massively parallel reporter assay to decode the regulatory logic of variants with pleiotropic and disorder-specific effects.

Genomics yields biological and phenotypic insights into bipolar disorder.

Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.

Suspected Mpox Symptoms and Testing in Men Who Have Sex With Men in the United States: Cross-Sectional Study.

Background: The 2022 mpox outbreak in the United States disproportionately affected gay, bisexual, and other men who have sex with men (GBMSM). Uptake of mpox testing may be related to symptomology, sociodemographic characteristics, and behavioral characteristics.

Objective: This study aimed to describe suspected mpox symptoms and testing uptake among a sample of GBMSM recruited via the internet in the United States in August 2022.