Andreas G. Chiocchetti

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

F. Kyle Satterstrom, Chiara Auwerx, Jack Fu, Zhancheng Zhang et autres

Summary Autism spectrum disorder is a heritable neurodevelopmental condition affecting approximately 3% of children 1,2 that presents with core behavioral features and a range of possible comorbidities, including intellectual disability 3 . While common variants contribute substantially to autism liability 4 , …

us, fi, it, br, es, de, co, il, gb, fr (code pays fourni par la source)

Large language model-assisted discovery of cohorts from scientific literature

Moritz Sturm, Lisa M. Berg, Inken Berg, Harishny Sarma et autres

Background: Planning multi-study analyses requires identifying cohorts with the relevant participants, phenotypes, and data modalities. This process commonly relies on prior knowledge, cohort catalogues, and manual literature searches. We developed a complementary question-driven framework that searches relevant scientific literature and extracts explicit …

Deleterious coding variation associated with autism is shared across ancestries

Marina Natividad Avila, Seulgi Jung, F. Kyle Satterstrom, Jack M. Fu et autres

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high likelihood for autism spectrum disorder (ASD), intellectual disability and other associated developmental disorders. However, most underlying gene discovery efforts have focused on individuals …

us, br, co, mx, jp, it, de, dk, es, cn, hk, se, fi, pt (code pays fourni par la source)

Generation of iPSC lines from an ADHD patient (UKWi008-A, UKWi008-A-1) and a healthy control (UKWi009-A, UKWi009-A-1)

Zora Schickardt, Julia Grüner, Deniz Gücsavas, Franziska Radtke et autres

Attention-Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental condition with a complex polygenic architecture and an unclear etiology. Human induced pluripotent stem cells (iPSCs), which retain the donor's genetic background, provide a powerful model to study patient-specific cellular phenotypes in polygenic disorders. …

de, ch, ie (code pays fourni par la source)

Correction: SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study

Elizabeth Farrow, Andreas G. Chiocchetti, Kerstin Konrad, Graeme Fairchild et autres