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Silvia Buonamici, PhD
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Journal Articles

Male-Biased Spliceosome Mutations in Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) Impair pDC Activation and Apoptosis

Katsuhiro Togami, MDPhD, Sun Sook Chung, PhD, Vikas Madan, PhD, Christopher M. Kenyon, BS, Lucia Cabal-Hierro, PhD, Justin Taylor, MD, Sunhee Kim, MD, Gabriel K Griffin, MD, Mahmoud Ghandi, Jia Li, PhD, Yvonne Y. Li, PhD, Fanny Angelot-Delletre, PhD, Sabeha Biichle, Michael Seiler, Silvia Buonamici, PhD, Scott B Lovitch, MDPhD, Abner Louissaint, Jr., MD PhD, Elizabeth A Morgan, MD, Fabrice Jardin, MD PhD, Pier Paolo Piccaluga, MD PhD, David M. Weinstock, MD, Peter S. Hammerman, MD PhD, Henry Yang, PhD, Marina Konopleva, MD PhD, Naveen Pemmaraju, MD, Francine Garnache-Ottou, PhD, Omar Abdel-Wahab, MD, H. Phillip Koeffler, MD, Andrew A Lane, MD PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 13–14.
https://doi.org/10.1182/blood-2020-137727
Published: 2020
Journal Articles

Results of a Clinical Trial of H3B-8800, a Splicing Modulator, in Patients with Myelodysplastic Syndromes (MDS), Acute Myeloid Leukemia (AML) or Chronic Myelomonocytic Leukemia (CMML)

David P. Steensma, MD, Martin Wermke, MD, Virginia M. Klimek, MD, Peter L Greenberg, MD, Patricia Font, Rami S. Komrokji, MD, Jay Yang, MD, Andrew M. Brunner, MD, Hetty E. Carraway, MD MBA, Lionel Ades, MD PhD, Aref Al-Kali, MD, Juan Manuel Alonso Dominguez, MD PhD MSc, Ana Alonso, MD, Catherine C. Coombs, MD, H. Joachim Deeg, MD, William B. Donnellan, MD, James M. Foran, MD, Guillermo Garcia-Manero, MD, Michael B. Maris, MD, Malgorzata McMasters, MD, Jean-Baptiste Micol, MD, Jaime Perez De Oteyza, MD PhD, Felicitas Thol, MD, Eunice S. Wang, MD, Justin M. Watts, MD, Silvia Buonamici, PhD, Amy Kim, MSPh PhD, Vikram Gourineni, MS, PharmD, Alyssa J Marino, Nathalie Rioux, MSc, PhD, Joanne Schindler, MD, Sherri Smith, MS, Huilan Yao, PhD, Xiaobin Yuan, Kun Yu, PhD, Uwe Platzbecker
Journal: Blood
Blood (2019) 134 (Supplement_1): 673.
https://doi.org/10.1182/blood-2019-123854
Published: 2019
Journal Articles

STAG2 Mutations Alter Cohesin Ring Function and Provide Therapeutic Vulnerabilities in Acute Myeloid Leukemia

Zuzana Tothova, MD PhD, John M. Krill-Burger, MS, Daniel S. Day, PhD, J. Erika Haydu, MD PhD, Brian J. Abraham, PhD, Catherine C. Landers, BA, Edyta Malolepsza, PhD, Christina R. Hartigan, BS, Amie Holmes, PhD, Melanie Donahue, BS, Katerina D. Popova, BA, Sebastian Koochaki, MS, Jeanne Rivera, BSc, Michael Seiler, PhD, Denes Hnisz, PhD, Edwin Chen, PhD, Silvia Buonamici, PhD, Monica Schenone, PhD, Alan D. D'Andrea, MD, Steven A. Carr, PhD, Richard A. Young, PhD, Benjamin L. Ebert, MDPhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 940.
https://doi.org/10.1182/blood-2018-99-117480
Published: 2018
Journal Articles

Splicing Modulation Perturbs Key Survival Pathways and Sensitizes Chronic Lymphocytic Leukemia to Venetoclax Treatment

Elisa Ten Hacken, PhD, Rebecca Valentin, MD, Jing Sun, PhD, Jing Deng, PhD, Angela Brooks, PhD, Lillian Werner, MS, Fara Faye Regis, BS, Michaela Gruber, MD PhD, Jessica Wong, BS, Zachary Cartun, BS, Michael Seiler, PhD, Peter Smith, PhD, Michael Thomas, PhD, Silvia Buonamici, PhD, Emanuela M. Ghia, PhD, Ekaterina Kim, PhD, Laura Z. Rassenti, PhD, Jan A. Burger, MD PhD, Thomas J. Kipps, MD, Matthew Meyerson, MDPhD, Donna S. Neuberg, ScD, Ruben D. Carrasco, MD PhD, Lili Wang, MD PhD, Matthew S. Davids, MD, Anthony Letai, MD PhD, Catherine J. Wu, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 264.
https://doi.org/10.1182/blood.V130.Suppl_1.264.264
Published: 2017
Journal Articles

Genome-Wide CRISPR/Cas9 Screen Reveals That the Dcps Scavenger Decapping Enzyme Is Essential for AML Cell Survival

Takuji Yamauchi, MDPhD, Takeshi Masuda, PhD, Matthew C. Canver, BS, Michael Seiler, PhD, Mohammad Shboul, Manami Maeda, MDPhD, Vivien Schoonenberg, BS, Mitchel A. Cole, BS, Claudio Macias-Trevino, BS, Yuichiro Semba, MD, Yuichi Ishikawa, MD PhD, Michitaka Nakano, MD, Fumio Arai, PhD, Stuart Orkin, Bruno Reversade, Silvia Buonamici, PhD, Luca Pinello, PhD, Koichi Akashi, MD PhD, Daniel E. Bauer, MD PhD, Takahiro Maeda, MDPhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 782.
https://doi.org/10.1182/blood.V130.Suppl_1.782.782
Published: 2017
Journal Articles

Spliceosomal Dysfunction Is a Critical Mediator of IDH2 Mutant Leukemogenesis

Akihide Yoshimi, Kuan-Ting Lin, PhD, Daniel Wiseman, MB, ChB, Andrew M Intlekofer, MD PhD, Bo Wang, Alessandro Pastore, MD, Mohammad Rahman, Stanley Chun-Wei Lee, PhD, Bo Liu, PhD, Jean-Baptiste Micol, MD PhD, Stephane De Botton, Virginie Penard-Lacronique, PhD, Alan H. Shih, MD PhD, Eytan M. Stein, MD, Benjamin H Durham, MD BS, Daichi Inoue, MD PhD, Xiao Jing Zhang, Todd Albrecht, Young Rock Chung, MS, Shouyong Peng, Silvia Buonamici, PhD, James Palacino, PhD, Peter Smith, PhD, Craig B. Thompson, MD, Ross L. Levine, MD, Eric Wagner, PhD, Adrian R. Krainer, PhD, Omar Abdel-Wahab, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 473.
https://doi.org/10.1182/blood.V130.Suppl_1.473.473
Published: 2017
Journal Articles

Dynamic BH3 Profiling to Assess the Effects of Novel Agents on Anti-Apoptotic Protein Dependence of CLL Cells

Rebecca Valentin, MD, Jing Deng, PhD, Elisa Ten Hacken, PhD, Timothy Z. Lehmberg, BA, Silvia Buonamici, PhD, Donna S. Neuberg, ScD, Catherine J. Wu, MD, Anthony Letai, MD PhD, Matthew S. Davids, MD MMSc
Journal: Blood
Blood (2017) 130 (Supplement 1): 4289.
https://doi.org/10.1182/blood.V130.Suppl_1.4289.4289
Published: 2017
Journal Articles

Synthetic Lethal Interactions of MDS-Associated Spliceosomal Gene Mutations Identifies the Basis for Their Mutual Exclusivity

Stanley Chun-Wei Lee, PhD, Khrystyna Dilai, Esther A. Obeng, MDPhD, Eunhee Kim, PhD, Jean-Baptiste Micol, MD PhD, Akihide Yoshimi, MD PhD, Christophe Willekens, MD, Daichi Inoue, Véronique Saada, PharmD, Hana Cho, Young Rock Chung, MS, James Palacino, PhD, Michael Seiler, PhD, Silvia Buonamici, PhD, Peter Smith, Benjamin L. Ebert, MD PhD, Robert Bradley, PhD, Omar Abdel-Wahab, MD
Journal: Blood
Blood (2016) 128 (22): 961.
https://doi.org/10.1182/blood.V128.22.961.961
Published: 2016
Journal Articles

Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) Harbors Frequent Splicesosome Mutations That Cause Aberrant RNA Splicing Affecting Genes Critical in pDC Differentiation and Function

Katsuhiro Togami, MD PhD, Vikas Madan, PhD, Jia Li, PhD, Alexandra-Chloe Villani, PhD, Siranush Sarkizova, BS, Mahmoud Ghandi, PhD, Kevin Buczkowski, BS, Yvonne Li, PhD, Sabeha Biichle, BS, Fanny Angelot-Delettre, PhD, Michael Seiler, PhD, Silvia Buonamici, PhD, Justin Taylor, MD, Omar Abdel-Wahab, MD, Peter S Hammerman, MD PhD, Nir Hacohen, PhD, Henry Yang, PhD, Francine Garnache-Ottou, PhD, H. Phillip Koeffler, MD PhD, Andrew A. Lane, MD PhD
Journal: Blood
Blood (2016) 128 (22): 738.
https://doi.org/10.1182/blood.V128.22.738.738
Published: 2016
Journal Articles

A Chemical Modifier Screen in Zebrafish Mutants for the Spliceosomal Component Sf3b1reveals Genotype-Selective Vulnerabilities

Rosannah C. Cameron, PhD, Mia McKinstry, Adriana De La Garza, Sara Nik, Peter G Smith, PhD, Silvia Buonamici, PhD, Robert K. Bradley, PhD, Teresa V. Bowman, PhD
Journal: Blood
Blood (2016) 128 (22): 965.
https://doi.org/10.1182/blood.V128.22.965.965
Published: 2016
Journal Articles

H3B-8800, an Orally Bioavailable Modulator of the SF3b Complex, Shows Efficacy in Spliceosome-Mutant Myeloid Malignancies

Silvia Buonamici, PhD, Akihide Yoshimi, MD PhD, Michael Thomas, Michael Seiler, PhD, Betty Chan, PhD, Benjamin Caleb, Rachel Darman, PhD, Peter Fekkes, PhD, Craig Karr, PhD, Gregg F. Keaney, PhD, Virginia M. Klimek, MD, Kaiko Kunii, Linda Lee, Stanley Chun-Wei Lee, PhD, Xiang Liu, PhD, Carol Meeske, Yoshiharu Mizui, PhD, Eric Padron, MD, Eunice Park, PhD, Ermira Pazolli, PhD, Sudeep Prajapati, PhD, Justin Taylor, MD, John Wang, PhD, Markus Warmuth, MD, Lihua Yu, PhD, Ping Zhu, MD, Omar Abdel-Wahab, MD, Peter G Smith, PhD
Journal: Blood
Blood (2016) 128 (22): 966.
https://doi.org/10.1182/blood.V128.22.966.966
Published: 2016
Journal Articles

Sf3b1 K700E Mutation Impairs Pre-mRNA Splicing and Definitive Hematopoiesis in a Conditional Knock-in Mouse Model

Annalisa Mupo, PhD, Vijitha Sathiaseelan, Michael Seiler, PhD, David Kent, PhD, Shouyong Peng, PhD, Ruben Bautista, Suruchi Pacharne, Barry Rosen, Manousos Koutsourakis, Nicla Manes, Frances Law, Elli Papaemmanuil, PhD, Silvia Buonamici, PhD, Peter J Campbell, MD PhD, Niccolo Bolli, MD PhD, George S. Vassiliou, MD PhD
Journal: Blood
Blood (2015) 126 (23): 140.
https://doi.org/10.1182/blood.V126.23.140.140
Published: 2015
Journal Articles

Heterozygous Hotspot SF3B1 Mutations Found in Myelodysplastic Syndromes Downregulate Genes Involved in Differentiation of Erythroid Cells

Silvia Buonamici, PhD, Rachel Darman, PhD, Samantha Perino, BS, Anant Agrawal, PhD, Shouyong Peng, PhD, Michael Seiler, PhD, Kian Huat Lim, PhD, Erica B. Bhavsar, Jacob Feala, PhD, Esther A. Obeng, MDPhD, Suzanna Bailey, PhD, Betty Chan, PhD, Peter Fekkes, PhD, Gregg F. Keaney, PhD, Pavan Kumar, PhD, Kaiko Kunii, Linda Lee, MS, Crystal Mackenzie, Mark Matijevic, Yoshiharu Mizui, PhD, Khin Myint, Eunice Park, Ermira Pazolli, Michael Thomas, John Wang, Markus Warmuth, MD, Lihua Yu, PhD, Ping Zhu, Richard R. Furman, MD, Benjamin L Ebert, MD PhD, Peter G Smith, PhD
Journal: Blood
Blood (2015) 126 (23): 1643.
https://doi.org/10.1182/blood.V126.23.1643.1643
Published: 2015
Journal Articles

Therapeutic Targeting of Spliceosomal Mutant Myeloid Leukemias through Modulation of Splicing Catalysis

Stanley Chun-Wei Lee, PhD, Heidi Dvinge, Eunhee Kim, PhD, Hana Cho, Young Rock Chung, MS, Jean-Baptiste Micol, MD, Benjamin Durham, MD PhD, Young Joon Kim, Michael Thomas, Camille Lobry, PhD, Silvia Buonamici, PhD, Peter Smith, Robert K. Bradley, PhD, Omar Abdel-Wahab
Journal: Blood
Blood (2015) 126 (23): 4.
https://doi.org/10.1182/blood.V126.23.4.4
Published: 2015
Journal Articles

SRSF2 Mutations Impair Hematopoietic Differentiation By Altering Exonic Splicing Enhancer Preference

Eunhee Kim, PhD, Janine O. Ilagan, PhD, Stanley Lee, PhD, Aravind Ramakrishnan, MD, Young Rock Chung, MS, Jean-Baptiste Micol, MD, Michele E. Murphy, Min-Kyung Kim, BS, Ahmad S. Zebari, Jacob Feala, Silvia Buonamici, PhD, Peter G Smith, PhD, H. Joachim Deeg, MD, Camille Lobry, PhD, Iannis Aifantis, PhD MSC, Robert K. Bradley, PhD, Omar Abdel-Wahab, MD
Journal: Blood
Blood (2014) 124 (21): 824.
https://doi.org/10.1182/blood.V124.21.824.824
Published: 2014
Journal Articles

Cancer-Associated Mutations in SF3B1 Exhibit Neomorphic Splicing Activity and Block Erythroid Differentiation

Silvia Buonamici, PhD, Samantha Perino, Kian Huat Lim, Jacob Feala, Esther A. Obeng, MDPhD, Michelle Aicher, Daniel Aird, Suzanna Bailey, Anna Berkenblit, Betty Chan, Corcoran Erik, Laura Corson, PhD, Rachel Darman, Peter Fekkes, Richard R. Furman, MD, Gregg F Keaney, PhD, Pavan Kumar, Kaiko Kunii, Linda Lee, Crystal Mackenzie, Eunice Park, Xiaoling Puyang, Anand Selvaraj, Michael Thomas, John Wang, Markus Warmuth, MD, Lihua Yu, PhD, Ping Zhu, Yoshiharu Mizui, PhD, Benjamin L. Ebert, MDPhD, Peter G Smith, PhD
Journal: Blood
Blood (2014) 124 (21): 4615.
https://doi.org/10.1182/blood.V124.21.4615.4615
Published: 2014
Journal Articles

Inhibition of Chronic Myeloid Leukemia Stem Cells by the Combination of the Hedgehog Pathway Inhibitor LDE225 with Nilotinib

Bin Zhang, David Irvine, Yin Wei Ho, Silvia Buonamici, PhD, Paul Manley, PhD, Tessa L. Holyoake, PhD, FRCP, FRCPath, Mhairi Copland, PhD, BSc, MRCP, FRCPath, Ravi Bhatia, MD
Journal: Blood
Blood (2010) 116 (21): 514.
https://doi.org/10.1182/blood.V116.21.514.514
Published: 2010
Journal Articles

FBW7 E3-Ligase Mutations Are Associated with T Cell Leukemia.

Silvia Buonamici, PhD, Benjamin J. Thompson, Maria L. Sulis, MD, Teresa Palomero, PhD, Adolfo Ferrando, MD, PhD, Iannis Aifantis, PhD
Journal: Blood
Blood (2007) 110 (11): 4284.
https://doi.org/10.1182/blood.V110.11.4284.4284
Published: 2007