Nil Aygün

TL;DR: By integrating genetic association data with multi-omic gene regulatory annotations and experimental validation, this work fine-mapped a causal risk variant and demonstrated that DDHD2 is a novel gene associated with ASD risk.

TL;DR: By integrating cell-type specific caQTLs and brain-relevant genome-wide association data, this work was able to fine-map loci and identify regulatory mechanisms underlying non-coding neuropsychiatric disorder risk variants.

TL;DR: In this paper, the authors map e/sQTLs and allele-specific expression in cultured cells representing two major developmental stages, primary human neural progenitors and their sorted neuronal progeny, identifying numerous loci not detected in either bulk developing cortical wall or adult cortex.

TL;DR: A genome-wide association study using the Simons Foundation Powering Autism Research for Knowledge dataset to identify additional common genetic risk factors and molecular mechanisms underlying risk for ASD found one novel GWS locus from the SPARK GWAS.

TL;DR: Using colocalization and TWAS, e/sQTLs and allele specific expression in primary human neural progenitors and their sorted neuronal progeny are mapped and cell-type specific regulatory mechanisms underlying risk for these traits are uncovered.