In a patient with permanent neonatal syndromic diabetes clinically similar to cases with ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of ONECUT1. Through genetic, genomic, and functional studies, we identified a crucial regulatory region acting as an enhancer of ONECUT1 specifically during pancreatic development. This enhancer region contains a low-frequency variant showing a strong association with type 2 diabetes and other glycemic traits, thus extending the contribution of this region to common forms of diabetes.
View Article and Find Full Text PDFOrganizations increasingly recognize the importance of including neurodivergent people (e.g., those with attention-deficit/hyperactivity disorder [ADHD], autism, dyslexia) in the workforce.
View Article and Find Full Text PDFBackground: This study evaluates the psychometric properties of the newly developed semi-structured interview, Interview Version of the Symptoms and Functioning Severity Scale (SFSS-I), which is designed to provide a dimensional assessment of internalizing and externalizing symptoms.
Methods: Multi-informant baseline data from the OPTIE study was used, involving 358 children and adolescents aged 6 to 17 years (M = 11.54, SD = 3.