Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy
Efthymiou, Stephanie, Dutra‐Clarke, Marina, Maroofian, Reza, Kaiyrzhanov, Rauan, Scala, Marcello, Reza Alvi, Javeria, Sultan, Tipu, Christoforou, Marilena, Tuyet Mai Nguyen, Thi, Mankad, Kshitij, Vona, Barbara, Rad, Aboulfazl, Striano, Pasquale, Salpietro, Vincenzo, Guillen Sacoto, Maria J., Zaki, Maha S., Gleeson, Joseph G., Campeau, Philippe M., Russell, Bianca E., Houlden, Henry
Published in Epilepsia (Copenhagen) (01.02.2021)
Published in Epilepsia (Copenhagen) (01.02.2021)
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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Deignan, Joshua L., Kang, Sung-Hae, Arboleda, Valerie A., Senaratne, T. Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S., Kianmahd, Jessica, Hinkamp, Franceska L., Neustadt, Ahna M., Martinez-Agosto, Julian A., Fogel, Brent L., Quintero-Rivera, Fabiola, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane
Published in American journal of human genetics (03.09.2020)
Published in American journal of human genetics (03.09.2020)
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Journal Article
Glioma cell proliferation is enhanced in the presence of tumor-derived cilia vesicles
Hoang-Minh, Lan B, Dutra-Clarke, Marina, Breunig, Joshua J, Sarkisian, Matthew R
Published in Cilia (London) (06.11.2018)
Published in Cilia (London) (06.11.2018)
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Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families
Wojcik, Monica H., Srivastava, Siddharth, Agrawal, Pankaj B., Balci, Tugce B., Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra‐Clarke, Marina, Edwards, Matthew, Genetti, Casie A., Grange, Dorothy K., Hickey, Scott E., Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M., Lavillaureix, Alinoe, Lyons, Michael J., Marcelis, Carlo, Marco, Elysa J., Martinez‐Agosto, Julian A., Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J., Riberi, Evelise, Rush, Eric T., Russell, Bianca E., Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A., Wilson, Kate, Jansen, Sandra, Vries, Bert B. A., Curry, Cynthia J.
Published in American journal of medical genetics. Part A (01.07.2023)
Published in American journal of medical genetics. Part A (01.07.2023)
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Journal Article
Ets Factors Regulate Neural Stem Cell Depletion and Gliogenesis in Ras Pathway Glioma
Breunig, Joshua J., Levy, Rachelle, Antonuk, C. Danielle, Molina, Jessica, Dutra-Clarke, Marina, Park, Hannah, Akhtar, Aslam Abbasi, Kim, Gi Bum, Town, Terrence, Hu, Xin, Bannykh, Serguei I., Verhaak, Roel G.W., Danielpour, Moise
Published in Cell reports (Cambridge) (14.07.2015)
Published in Cell reports (Cambridge) (14.07.2015)
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Journal Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, André, Zweier, Christiane
Published in Orphanet journal of rare diseases (18.03.2021)
Published in Orphanet journal of rare diseases (18.03.2021)
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Journal Article
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy
Dutra-Clarke, Marina, Tapia, Daisy, Curtin, Emily, Rünger, Dennis, Lee, Grace K., Lakatos, Anita, Alandy-Dy, Zyza, Freedkin, Linda, Hall, Kathy, Ercelen, Nesrin, Alandy-Dy, Jousef, Knight, Margaret, Pahl, Madeleine, Lombardo, Dawn, Kimonis, Virginia
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Journal Article
Ets Factors Regulate Neural Stem Cell Depletion and Gliogenesis in Ras Pathway Glioma
Breunig, Joshua J., Levy, Rachelle, Antonuk, C. Danielle, Molina, Jessica, Dutra-Clarke, Marina, Park, Hannah, Akhtar, Aslam Abbasi, Kim, Gi Bum, Town, Terrence, Hu, Xin, Bannykh, Serguei I., Verhaak, Roel G.W., Danielpour, Moise
Published in Cell reports (Cambridge) (20.12.2016)
Published in Cell reports (Cambridge) (20.12.2016)
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Journal Article
Ets Factors Regulate Neural Stem Cell Depletion and Gliogenesis in Ras Pathway Glioma
Breunig, Joshua J., Levy, Rachelle, Antonuk, C. Danielle, Molina, Jessica, Dutra-Clarke, Marina, Park, Hannah, Akhtar, Aslam Abbasi, Kim, Gi Bum, Hu, Xin, Bannykh, Serguei I., Verhaak, Roel G.W., Danielpour, Moise
Published in Cell reports (Cambridge) (12.01.2016)
Published in Cell reports (Cambridge) (12.01.2016)
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Journal Article
Ets Factors Regulate Neural Stem Cell Depletion and Gliogenesis in Ras Pathway Glioma
Breunig, Joshua J., Levy, Rachelle, Antonuk, C. Danielle, Molina, Jessica, Dutra-Clarke, Marina, Park, Hannah, Akhtar, Aslam Abbasi, Kim, Gi Bum, Hu, Xin, Bannykh, Serguei I., Verhaak, Roel G.W., Danielpour, Moise
Published in Cell reports (Cambridge) (21.07.2015)
Published in Cell reports (Cambridge) (21.07.2015)
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Journal Article
A Transposon-Mediated System for Flexible Control of Transgene Expression in Stem and Progenitor-Derived Lineages
Akhtar, Aslam Abbasi, Molina, Jessica, Dutra-Clarke, Marina, Kim, Gi Bum, Levy, Rachelle, Schreiber-Stainthorp, William, Danielpour, Moise, Breunig, Joshua J.
Published in Stem cell reports (10.03.2015)
Published in Stem cell reports (10.03.2015)
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Journal Article
Rapid Generation of Somatic Mouse Mosaics with Locus-Specific, Stably Integrated Transgenic Elements
Kim, Gi Bum, Rincon Fernandez Pacheco, David, Saxon, David, Yang, Amy, Sabet, Sara, Dutra-Clarke, Marina, Levy, Rachelle, Watkins, Ashley, Park, Hannah, Abbasi Akhtar, Aslam, Linesch, Paul W., Kobritz, Naomi, Chandra, Swasty S., Grausam, Katie, Ayala-Sarmiento, Alberto, Molina, Jessica, Sedivakova, Kristyna, Hoang, Kendy, Tsyporin, Jeremiah, Gareau, Daniel S., Filbin, Mariella G., Bannykh, Serguei, Santiskulvong, Chintda, Wang, Yizhou, Tang, Jie, Suva, Mario L., Chen, Bin, Danielpour, Moise, Breunig, Joshua J.
Published in Cell (19.09.2019)
Published in Cell (19.09.2019)
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BCL6 promotes glioma and serves as a therapeutic target
Xu, Liang, Chen, Ye, Dutra-Clarke, Marina, Mayakonda, Anand, Hazawa, Masaharu, Savinoff, Steve E., Doan, Ngan, Said, Jonathan W., Yong, William H., Watkins, Ashley, Yang, Henry, Ding, Ling-Wen, Jiang, Yan-Yi, Tyner, Jeffrey W., Ching, Jianhong, Kovalik, Jean-Paul, Madan, Vikas, Chan, Shing-Leng, Müschen, Markus, Breunig, Joshua J., Lin, De-Chen, Koeffler, H. Phillip
Published in Proceedings of the National Academy of Sciences - PNAS (11.04.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (11.04.2017)
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The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome
Pisan, Elise, De Luca, Chiara, Brancati, Francesco, Sanchez Russo, Rossana, Li, Dong, Bhoj, Elizabeth, Wenger, Tara, Marwaha, Ashish, Johnson, Nicole, Beneteau, Claire, Brischoux-Boucher, Elise, Houge, Gunnar, Paulsen, Julie, Hammer, Trine Bjørg, Ek, Jakob, Schweitzer, Daniela, Russell, Bianca E, Dutra-Clarke, Marina, Nelson, Stanley, Douine, Emilie D, Corona, Rosario I, Dudding, Tracy, Thomson, Hannah, Low, Karen, Belnap, Newell, Iascone, Maria, Priolo, Manuela, Carli, Diana, Mussa, Alessandro, Bijlsma, Emilia K, Kopp, Nathan, Jais, Jean-Philippe, Amiel, Jeanne, Gordon, Christopher T
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2024)
Published in Proceedings of the National Academy of Sciences - PNAS (19.03.2024)
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Journal Article
LGG-10. AN UNUSUAL PRESENTATION OF BILATERAL OPTIC NERVE GLIOMA IN CROUZON SYNDROME
Na, Brian, Wang, Anthony C, Watterson, Christopher Travis, Martinez-Agosto, Julian A, Saitta, Sulagna, Dutra-Clarke, Marina, Hinkamp, Franceska, Pineles, Stacy L, de Blank, Peter, Chang, Vivian Y, Moore, Theodore
Published in Neuro-oncology (Charlottesville, Va.) (01.06.2021)
Published in Neuro-oncology (Charlottesville, Va.) (01.06.2021)
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Journal Article
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy
Dutra-Clarke, Marina, Tapia, Daisy, Curtin, Emily, Ruenger, Dennis, Lakatos, Anita, Alandy-Dy, Zyza, Freedkin, Linda, Hall, Kathy, Ercelen, Nesrin, Alandy-Dy, Jousef, Knight, Margaret, Pahl, Madeline, Lombardo, Dawn, Kimonis, Virginia
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
Kaiyrzhanov, Rauan, Mohammed, Sami E.M., Maroofian, Reza, Husain, Ralf A., Catania, Alessia, Torraco, Alessandra, Alahmad, Ahmad, Dutra-Clarke, Marina, Grønborg, Sabine, Sudarsanam, Annapurna, Vogt, Julie, Arrigoni, Filippo, Baptista, Julia, Haider, Shahzad, Feichtinger, René G., Bernardi, Paolo, Zulian, Alessandra, Gusic, Mirjana, Efthymiou, Stephanie, Bai, Renkui, Bibi, Farah, Horga, Alejandro, Martinez-Agosto, Julian A., Lam, Amanda, Manole, Andreea, Rodriguez, Diego-Perez, Durigon, Romina, Pyle, Angela, Albash, Buthaina, Dionisi-Vici, Carlo, Murphy, David, Martinelli, Diego, Bugiardini, Enrico, Allis, Katrina, Lamperti, Costanza, Reipert, Siegfried, Risom, Lotte, Laugwitz, Lucia, Di Nottia, Michela, McFarland, Robert, Vilarinho, Laura, Hanna, Michael, Prokisch, Holger, Mayr, Johannes A., Bertini, Enrico Silvio, Ghezzi, Daniele, Østergaard, Elsebet, Wortmann, Saskia B., Carrozzo, Rosalba, Haack, Tobias B., Taylor, Robert W., Spinazzola, Antonella, Nowikovsky, Karin, Houlden, Henry
Published in American journal of human genetics (01.09.2022)
Published in American journal of human genetics (01.09.2022)
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Journal Article
IM-10EFFECTS OF T-CELL TGF-β SIGNALING ABROGATION ON SURVIVAL IN PEDIATRIC GLIOMA
Breunig, Joshua, Danielpour, Moise, Levy, Rachelle, Dutra-Clarke, Marina
Published in Neuro-oncology (Charlottesville, Va.) (21.04.2015)
Published in Neuro-oncology (Charlottesville, Va.) (21.04.2015)
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Journal Article
Abstract NG01: MADR: Rapid generation of somatic mosaics to model cancer in mice and human organoids
Kim, Gi Bum, Pacheco, David Rincon Fernandez, Saxon, David, Yang, Amy, Sabat, Sara, Dutra-Clarke, Marina, Levy, Rachelle, Watkins, Ashley, Park, Hannah, Akhtar, Aslam Abbasi, Linesch, Paul W., Kobritz, Naomi, Shandra, Swasty S., Grausam, Katie, Ayala-Sarmiento, Alberto, Molina, Jessica, Sedivakova, Kristyna, Gareau, Daniel S., Filbin, Mariella G., Bannykh, Serguei, Tang, Jie, Suva, Mario L., Chen, Bin, Danielpour, Moise, Breunig, Joshua J.
Published in Cancer research (Chicago, Ill.) (15.08.2020)
Published in Cancer research (Chicago, Ill.) (15.08.2020)
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