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Arteriosclerosis, Thrombosis, and Vascular Biology|October 21, 2021
Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood VesselsLan Huang, Colette Bichsel, Alexis L Norris, et al.Annals of Clinical and Translational Neurology|January 4, 2018
Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disordersDarcy A Krueger, Anjali Sadhwani, Anna W Byars, et al.Archives of Medical Science : AMS|March 20, 2020
Frequency of thyroid nodules and thyroid cancer in thyroidectomized patients with Graves' diseaseCaglar Keskin, Mustafa Sahin, Rovshan Hasanov, et al.Molecular Psychiatry|February 17, 2018
Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycinMaria Sundberg, Ivan Tochitsky, David E Buchholz, et al.Molecular Autism|February 26, 2014
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosisSek Won Kong, Mustafa Sahin, Christin D Collins, et al.Plos One|April 30, 2020
Deep learning in rare disease. Detection of tubers in tuberous sclerosis complexIván Sánchez Fernández, Edward Yang, Paola Calvachi, et al.Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists|December 12, 2013
Preclinical atherosclerosis in patients with prolactinomaMuyesser Sayki Arslan, Oya Topaloglu, Mustafa Sahin, et al.Journal of Kidney Cancer and VHL|March 29, 2021
Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and ParagangliomaSinem Yalcintepe, Hakan Gurkan, Fatma Nur Korkmaz, et al.American Journal of Medical Genetics. Part A|February 17, 2024
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complexMelissa A Richard, Philip J Lupo, Erik A Ehli, et al.JCI Insight|September 25, 2025
Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsyKarenna J Groff, Yini Liang, Christopher Morici, et al.Pageof 57