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Article
Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models
Whole-exome and whole-genome sequencing studies in autism spectrum disorder (ASD) have identified hundreds of thousands of exonic variants. Only a handful of them, primarily loss-of-function variants, have bee...
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Article
Correction: Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
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Article
Open AccessCortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
Reciprocal deletion and duplication of the 16p11.2 region is the most common copy number variation (CNV) associated with autism spectrum disorders. We generated cortical organoids from skin fibroblasts of pati...
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Article
Open AccessAutism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling
E3-ubiquitin ligase Cullin3 (Cul3) is a high confidence risk gene for autism spectrum disorder (ASD) and developmental delay (DD). To investigate how Cul3 mutations impact brain development, we generated a haploi...
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Article
Open AccessInferring the molecular and phenotypic impact of amino acid variants with MutPred2
Identifying pathogenic variants and underlying functional alterations is challenging. To this end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid substitutions over exi...
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Protocol
Comprehensive Analyses of Tissue-Specific Networks with Implications to Psychiatric Diseases
Recent advances in genome sequencing and “omics” technologies are opening new opportunities for improving diagnosis and treatment of human diseases. The precision medicine initiative in particular aims at deve...
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Article
Open AccessTNFα sensitizes neuroblastoma cells to FasL-, cisplatin- and etoposide-induced cell death by NF-κB-mediated expression of Fas
Patients with high-risk neuroblastoma (NBL) tumors have a high mortality rate. Consequently, there is an urgent need for the development of new treatments for this condition. Targeting death receptor signaling...
