Nipple angiofibromas with loss of TSC2 are associated with tuberous sclerosis complex

by Nathan, Neera, Tyburczy, Magdalena E., Hamieh, Lana, Wang, Ji-an, Brown, G. Thomas, Lee, Chyi-Chia Richard, Kwiatkowski, David J., Moss, Joel, Darling, Thomas N.
Published 2015

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing

by Tyburczy, Magdalena E., Dies, Kira A., Glass, Jennifer, Camposano, Susana, Chekaluk, Yvonne, Thorner, Aaron R., Lin, Ling, Krueger, Darcy, Franz, David N., Thiele, Elizabeth A., Sahin, Mustafa, Kwiatkowski, David J.
Published 2015

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase

by Malik, Anna R., Liszewska, Ewa, Skalecka, Agnieszka, Urbanska, Malgorzata, Iyer, Anand M., Swiech, Lukasz J., Perycz, Malgorzata, Parobczak, Kamil, Pietruszka, Patrycja, Zarebska, Malgorzata M., Macias, Matylda, Kotulska, Katarzyna, Borkowska, Julita, Grajkowska, Wieslawa, Tyburczy, Magdalena E., Jozwiak, Sergiusz, Kwiatkowski, David J., Aronica, Eleonora, Jaworski, Jacek
Published 2015

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development

by Giannikou, Krinio, Malinowska, Izabela A., Pugh, Trevor J., Yan, Rachel, Tseng, Yuen-Yi, Oh, Coyin, Kim, Jaegil, Tyburczy, Magdalena E., Chekaluk, Yvonne, Liu, Yang, Alesi, Nicola, Finlay, Geraldine A., Wu, Chin-Lee, Signoretti, Sabina, Meyerson, Matthew, Getz, Gad, Boehm, Jesse S., Henske, Elizabeth P., Kwiatkowski, David J.
Published 2016