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Victor B. Pastor
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Journal Articles

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Clinical Trials & Observations
Richa Sharma, Sushree S. Sahoo, Masayoshi Honda, Sophie L. Granger, Charnise Goodings, Louis Sanchez, Axel Künstner, Hauke Busch, Fabian Beier, Shondra M. Pruett-Miller, Marcus B. Valentine, Alfonso G. Fernandez, Ti-Cheng Chang, Vincent Géli, Dmitri Churikov, Sandrine Hirschi, Victor B. Pastor, Melanie Boerries, Melchior Lauten, Charikleia Kelaidi, Megan A. Cooper, Sarah Nicholas, Jill A. Rosenfeld, Sophia Polychronopoulou, Caroline Kannengiesser, Carole Saintomé, Charlotte M. Niemeyer, Patrick Revy, Marc S. Wold, Maria Spies, Miriam Erlacher, Stéphane Coulon, Marcin W. Wlodarski
Journal: Blood
Blood (2022) 139 (7): 1039–1051.
https://doi.org/10.1182/blood.2021011980
Published: 2022
Includes: Supplemental data
Journal Articles

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Emilia J. Kozyra, Gudrun Göhring, Dennis D. Hickstein, Katherine R. Calvo, Courtney D. DiNardo, Michael Dworzak, Valerie de Haas, Jan Starý, Henrik Hasle, Akiko Shimamura, Mark D. Fleming, Hiroto Inaba, Sara Lewis, Amy P. Hsu, Steven M. Holland, Danielle E. Arnold, Cristina Mecucci, Siobán B. Keel, Alison A. Bertuch, Kiran Tawana, Shlomit Barzilai, Shinsuke Hirabayashi, Masahiro Onozawa, Shaohua Lei, Helena Alaiz, Hajnalka Andrikovics, David Betts, Berna H. Beverloo, Jochen Buechner, Martin Čermák, José Cervera, Olga Haus, Kirsi Jahnukainen, Kalliopi N. Manola, Karin Nebral, Francesco Pasquali, Joelle Tchinda, Dominik Turkiewicz, Nadine Van Roy, Zuzana Zemanova, Victor B. Pastor, Brigitte Strahm, Peter Noellke, Charlotte M. Niemeyer, Brigitte Schlegelberger, Ayami Yoshimi, Marcin W. Wlodarski
Journal: Blood
Blood (2021) 138 (23): 2441–2445.
https://doi.org/10.1182/blood.2021012781
Published: 2021
Includes: Supplemental data
Journal Articles

Functional Consequences of TCAB1 Mutations in Dyskeratosis Congenita

Sushree Sangita Sahoo, MSc., Caitlin Roake, B.S., Liliana Rindle, MD, Claudia Rössig, MD, Markus Schmugge, MD, Victor B Pastor, M.Sc., Brigitte Strahm, MD, Marena R Niewisch, MD, Gunda Ruzaike, BSc., Steven Artandi, MD PhD, Charlotte M Niemeyer, Prof, MD, Melanie Börries, MD PhD, Hauke Busch, PhD, Marcin Wlodarski, MD
Journal: Blood
Blood (2016) 128 (22): 3890.
https://doi.org/10.1182/blood.V128.22.3890.3890
Published: 2016
Journal Articles

Impact of Somatic Mutations on the Outcome of Children and Adolescents with Therapy-Related Myelodysplastic Syndrome

Brigitte Strahm, MD, Marcin W Wlodarski, MD, Victor B Pastor, M.Sc., Bart Przychodzien, PhD, Albert Catala, MD, Michael Dworzak, MD, Oksana Fabri, MD, Henrik Hasle, MD, Kristián Kállay, MD, Riccardo Masetti, MD, Barbara De Moerloose, MD, Marena R Niewisch, MD, Jan Stary, MD, Marek Ussowicz, MD, Ayami Yoshimi, MD, Wilfried Truckenmueller, Peter Noellke, MPH, Gudrun Göhring, MD, Irith Baumann, MD, Franco Locatelli, MD, Charlotte M Niemeyer, MD
Journal: Blood
Blood (2016) 128 (22): 3162.
https://doi.org/10.1182/blood.V128.22.3162.3162
Published: 2016