Biallelic loss of function variants in <i>PPP1R21</i> cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U. Rehman, Miriam Schmidts, Reza Maroofian et al.|Human Mutation|2018Cited by 21
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndromeMarios Kambouris, Hatem El‐Shanti|Orphanet Journal of Rare Diseases|2014Cited by 19
Cover Image, Volume 40, Issue 3Atteeq U. Rehman, Miriam Schmidts, Maryam Najafi et al.|Human Mutation|2019Cited by 6