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BMC Bioinformatics|February 26, 2010
Probe set filtering increases correlation between Affymetrix GeneChip and qRT-PCR expression measurementsJakub Mieczkowski, Magdalena E Tyburczy, Michal Dabrowski, et al.
The Journal of Clinical Investigation|December 6, 2016
Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activationJuxiang Cao, Magdalena E Tyburczy, Joel Moss, et al.
Human Molecular Genetics|November 26, 2013
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complexMagdalena E Tyburczy, Ji-An Wang, Shaowei Li, et al.
Human Molecular Genetics|November 30, 2014
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complexMagdalena E Tyburczy, Sergiusz Jozwiak, Izabela A Malinowska, et al.
Plos Genetics|November 6, 2015
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional TestingMagdalena E Tyburczy, Kira A Dies, Jennifer Glass, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2019
Phenotypic distinctions between mosaic forms of tuberous sclerosis complexAlison M Treichel, Lana Hamieh, Neera R Nathan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2019
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmissionKrinio Giannikou, Kathryn D Lasseter, Joannes M Grevelink, et al.
The European Respiratory Journal|April 20, 2019
A genome-wide association study implicates <i>NR2F2</i> in lymphangioleiomyomatosis pathogenesisWonji Kim, Krinio Giannikou, John R Dreier, et al.
Acta Neuropathologica Communications|July 30, 2015
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligaseAnna R Malik, Ewa Liszewska, Agnieszka Skalecka, et al.
Plos Genetics|August 6, 2016
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma DevelopmentKrinio Giannikou, Izabela A Malinowska, Trevor J Pugh, et al.
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