Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis ComplexMarianne Hoogeveen‐Westerveld, Mark Nellist|Human Mutation|2011Cited by 94
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disordersJordy Dekker, Tjakko J. van Ham, Esmee Kasteleijn et al.|The American Journal of Human Genetics|2023Cited by 60
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemiaMark Nellist, Grazia M.S. Mancini, Rachel Schot et al.|Molecular Genetics and Metabolism|2014Cited by 49
The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunitsMarianne Hoogeveen‐Westerveld, Mark Nellist|BMC Biochemistry|2012Cited by 25