Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.
De Jonghe J, Kim HC, Adedeji A, Leitão E, Dawes R, Chen Y, Blakes AJ, Simons C, Rius R, Alvi JR, Amblard F, Austin-Tse C, Baer S, Balton EV, Blanc P, Calame DG, Coutton C, Cunningham CA, Dargie N, Dipple KM, Du H, El Chehadeh S, Glass I, Gleeson JG, Grunewald O, Gueguen P, Harbuz R, Jacquemont ML, Leventer RJ, Marijon P, Messaoud O, Sultan T, Thauvin C, Vincent-Delorme C, Gulec EY, Thevenon J, Mendez R, MacArthur DG, Depienne C, Nava C, Whiffin N, Findlay GM.
De Jonghe J, et al. Among authors: dawes r.
medRxiv [Preprint]. 2025 Apr 10:2025.04.08.25325442. doi: 10.1101/2025.04.08.25325442.
medRxiv. 2025.
PMID: 40297424
Free PMC article.
Preprint.