Article

Enhancer-targeted CRISPR-A rescues haploinsufficiency and mutant phenotypes in organoid models of autism

2024-03-14

Abstract excerpt

Autism Spectrum Disorder (ASD) is a highly heritable condition with diverse clinical presentations. Approximately 20% of ASD’s genetic susceptibility is imparted by de novo mutations of major effect, most of which cause haploinsufficiency. We mapped enhancers of two high confidence autism genes – CHD8 and SCN2A and used CRISPR-based gene activation (CRISPR-A) in hPSC-derived excitatory neurons and cerebral fore...

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Literature Corpus work: 8adca66f-cf04-521d-b534-e6addc549feb
DOI: 10.1101/2024.03.13.584921

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