Biblio
2024
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh T-C, Vijayananth A, Buchert R, et al. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Brain. 2024.
2023
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH, Andersson MHL, Bupp C, Cambridge EL, et al. Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain. 2023.