Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
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 in PLoS genetics (01.11.2015)
Published in PLoS genetics (01.11.2015)
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Journal Article
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
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 in PLoS genetics (05.08.2016)
Published in PLoS genetics (05.08.2016)
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Journal Article
Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
Giannikou, Krinio, Lasseter, Kathryn D., Grevelink, Joannes M., Tyburczy, Magdalena E., Dies, Kira A., Zhu, Zachary, Hamieh, Lana, Wollison, Bruce M., Thorner, Aaron R., Ruoss, Stephen J., Thiele, Elizabeth A., Sahin, Mustafa, Kwiatkowski, David J.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
Mutations in TSC1, TSC2, and MTOR Are Associated with Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma
Kwiatkowski, David J, Choueiri, Toni K, Fay, André P, Rini, Brian I, Thorner, Aaron R, de Velasco, Guillermo, Tyburczy, Magdalena E, Hamieh, Lana, Albiges, Laurence, Agarwal, Neeraj, Ho, Thai H, Song, Jiaxi, Pignon, Jean-Christophe, Barrios, Pablo M, Michaelson, M Dror, Van Allen, Eliezer, Krajewski, Katherine M, Porta, Camillo, Pal, Sumanta, Bellmunt, Joaquim, McDermott, David F, Heng, Daniel Y C, Gray, Kathryn P, Signoretti, Sabina
Published in Clinical cancer research (15.05.2016)
Published in Clinical cancer research (15.05.2016)
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Journal Article
Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex
Tyburczy, Magdalena E, Wang, Ji-An, Li, Shaowei, Thangapazham, Rajesh, Chekaluk, Yvonne, Moss, Joel, Kwiatkowski, David J, Darling, Thomas N
Published in Human molecular genetics (15.04.2014)
Published in Human molecular genetics (15.04.2014)
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Journal Article
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex
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.
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis
Kim, Wonji, Giannikou, Krinio, Dreier, John R, Lee, Sanghun, Tyburczy, Magdalena E, Silverman, Edwin K, Radzikowska, Elżbieta, Wu, Shulin, Wu, Chin-Lee, Henske, Elizabeth P, Hunninghake, Gary, Carel, Havi, Roman, Antonio, Pujana, Miquel Angel, Moss, Joel, Won, Sungho, Kwiatkowski, David J
Published in The European respiratory journal (01.06.2019)
Published in The European respiratory journal (01.06.2019)
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Journal Article
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile
Giannikou, Krinio, Zhu, Zachary, Kim, Jaegil, Winden, Kellen D., Tyburczy, Magdalena E., Marron, David, Parker, Joel S., Hebert, Zachary, Bongaarts, Anika, Taing, Len, Long, Henry W., Pisano, William V., Alexandrescu, Sanda, Godlewski, Brianna, Nellist, Mark, Kotulska, Katarzyna, Jozwiak, Sergiusz, Roszkowski, Marcin, Mandera, Marek, Thiele, Elizabeth A., Lidov, Hart, Getz, Gad, Devinsky, Orrin, Lawrence, Michael S., Ligon, Keith L., Ellison, David W., Sahin, Mustafa, Aronica, Eleonora, Meredith, David M., Kwiatkowski, David J.
Published in Modern pathology (01.02.2021)
Published in Modern pathology (01.02.2021)
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Journal Article
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex
Tyburczy, Magdalena E, Jozwiak, Sergiusz, Malinowska, Izabela A, Chekaluk, Yvonne, Pugh, Trevor J, Wu, Chin-Lee, Nussbaum, Robert L, Seepo, Sara, Dzik, Tomasz, Kotulska, Katarzyna, Kwiatkowski, David J
Published in Human molecular genetics (01.04.2015)
Published in Human molecular genetics (01.04.2015)
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Journal Article
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
Giannikou, Krinio, Lasseter, Kathryn D., Grevelink, Joannes M., Tyburczy, Magdalena E., Dies, Kira A., Zhu, Zachary, Hamieh, Lana, Wollison, Bruce M., Thorner, Aaron R., Ruoss, Stephen J., Thiele, Elizabeth A., Sahin, Mustafa, Kwiatkowski, David J.
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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Journal Article
Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation
Han, MeiLan K, Tyburczy, Magdalena E, Darling, Thomas N, Kazerooni, Ella A, Myers, Jeffrey L, McCormack, Francis X, Moss, Joel, Kwiatkowski, David J
Published in Annals of the American Thoracic Society (01.07.2017)
Published in Annals of the American Thoracic Society (01.07.2017)
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Journal Article
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development
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 in PLoS genetics (01.08.2016)
Published in PLoS genetics (01.08.2016)
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Journal Article
Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex
Nathan, Neera, Tyburczy, Magdalena E., Hamieh, Lana, Wang, Ji-an, Brown, G. Thomas, Richard Lee, Chyi-Chia, Kwiatkowski, David J., Moss, Joel, Darling, Thomas N.
Published in Journal of investigative dermatology (01.02.2016)
Published in Journal of investigative dermatology (01.02.2016)
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Journal Article
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase
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 in Acta neuropathologica communications (30.07.2015)
Published in Acta neuropathologica communications (30.07.2015)
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Journal Article
Phenotypic distinctions between mosaic forms of tuberoussclerosis complex
Treichel, Alison M, Hamieh Lana, Nathan, Neera R, Tyburczy, Magdalena E, Ji-an, Wang, Oyerinde Oyetewa, Raiciulescu Sorana, Julien-Williams, Patricia, Jones, Amanda M, Gopalakrishnan Vissaagan, Moss, Joel, Kwiatkowski, David J, Darling, Thomas N
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing: e1005637
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 in PLoS genetics (01.11.2015)
Published in PLoS genetics (01.11.2015)
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Journal Article
Abstract 4353: Identification of proteins regulated by mTOR in brain tumors of patients with tuberous sclerosis complex
Tyburczy, Magdalena E., Kotulska, Katarzyna, Pokarowski, Piotr, Mieczkowski, Jakub, Grajkowska, Wieslawa, Jozwiak, Sergiusz, Kaminska, Bozena
Published in Cancer research (Chicago, Ill.) (15.04.2010)
Published in Cancer research (Chicago, Ill.) (15.04.2010)
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Journal Article
Apparent Sporadic Lymphangioleiomyomatosis (LAM) in a Man Due to Extreme Mosaicism for a TSC2 Mutation
Han, MeiLan K, Tyburczy, Magdalena E, Darling, Thomas N, Kazerooni, Ella A, Myers, Jeffrey L., McCormack, Francis X., Moss, Joel, Kwiatkowski, David J
Published in Annals of the American Thoracic Society (14.06.2017)
Published in Annals of the American Thoracic Society (14.06.2017)
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Journal Article