Probe set filtering increases correlation between Affymetrix GeneChip and qRT-PCR expression measurements

por Mieczkowski, Jakub, Tyburczy, Magdalena E, Dabrowski, Michal, Pokarowski, Piotr
Publicado 2010

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

por 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.
Publicado 2015

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

por 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.
Publicado 2015

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

por Treichel, Alison M, Hamieh, Lana, Nathan, Neera R, Tyburczy, Magdalena E., Wang, Ji-an, Oyerinde, Oyetewa, Raiciulescu, Sorana, Julien-Williams, Patricia, Jones, Amanda M., Gopalakrishnan, Vissaagan, Moss, Joel, Kwiatkowski, David J., Darling, Thomas N.
Publicado 2019

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase

por 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
Publicado 2015

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

por 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.
Publicado 2016