Maria Chahrour

Main text Autism spectrum disorder (ASD) is among the most genetically complex neurodevelopmental conditions, with contributions spanning rare, highly penetrant mutations to common polygenic risk.1,2,3,4 Advances in short-read genome sequencing have transformed gene discovery, particularly for single-nucleotide variants (SNVs) and small insertions or deletions.1,2 However, much of the genome, rich in repetitive sequences and prone to large-scale rearrangements, has remained difficult to...

Keywords Perturb-seq CRISPR/Cas9 human pluripotent stem cells single-cell genomics cardiomyocytes neural progenitor cells Introduction CRISPR interference (CRISPRi) Perturb-seq is a high-throughput phenotypic assay that combines CRISPRi using a library of single guide RNAs (sgRNAs) with single-cell RNA sequencing (scRNA-seq) to analyze the effects of thousands of genetic perturbations in a single experiment (Replogle et al., 2022; Adamson et al., 2016).

Abstract The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates of consanguinity, shared ancestry, and increased remote consanguinity. ASD prevalence in Lebanon is 1 in 68 with a male-to-female ratio of 2:1. This study aims to investigate the impact of an inherited deletion in UBLCP1 (Ubiquitin-Like Domain-Containing CTD Phosphatase 1) on the ubiquitin-proteasome system (UPS) and proteolysis.