Genetic & Genomic MedicinemedRxivPreprint
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji…·Gregory M. Findlay
This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.
13 citations