The gene HNF1B comes up in 45 articles together with the heart

…ng early developmental markers. Data analysis The findings from each study were extracted and thematically organized by type of anomaly (e.g., brain, cardiac, renal) and other relevant prenatal risk factors. The synthesis adopted a descriptive approach, summarizing reported associations and identifying rec…

…tributed equally Lead contact Summary Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the cell-type-specific common features of ASD. Here, we establish…

These authors contributed equally to this work. Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as…

…n at 17q21.32; and a de novo 48 Mb duplication at 8q22. Several CNVs overlapped known deletion/duplication syndromes, some with previously infrequent cardiac involvement. Genotype-phenotype correlations enabled prioritization of CHD relevant genes including DOCK8 , HTR2B , KANSL1 , ZFPM2 , and TRPS1 , whos…