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Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.American Journal of Human Genetics|May 7, 2021
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathyNorine Voisin, Rhonda E Schnur, Sofia Douzgou, et al.Pageof 3