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 M-L., 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.

DOI

10.1101/2025.04.08.25325442

Type

Preprint

Publication Date

2025-04-10T00:00:00+00:00

Keywords

ReNU syndrome, Saturation genome editing, clinical variant interpretation, neurodevelopmental disorders, non-coding RNA, recessive, small nuclear RNA

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