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Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|October 14, 2020
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profileKrinio Giannikou, Zachary Zhu, Jaegil Kim, et al.Human Mutation|October 17, 2022
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testingHannie C W Douben, Mark Nellist, Leontine van Unen, et al.Oncotarget|December 10, 2017
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutationsAnika Bongaarts, Krinio Giannikou, Roy J Reinten, et al.American Journal of Human Genetics|January 20, 2023
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disordersJordy Dekker, Rachel Schot, Michiel Bongaerts, et al.Cell|January 26, 2021
G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signalingMirja Tamara Prentzell, Ulrike Rehbein, Marti Cadena Sandoval, et al.HGG Advances|September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.Pageof 6