PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Yannis Trakadis, Thomas Besnard et al.|Science Translational Medicine|2023Cited by 36
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Tobias B. Haack, Fubo Cheng et al.|Brain|2024Cited by 10
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Sofia Douzgou, Denisa Weis et al.|European Journal of Human Genetics|2024Cited by 6