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Jill A. Rosenfeld
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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

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Jan Kazenwadel, Genevieve A. Secker, Yajuan J. Liu, Jill A. Rosenfeld, Robert S. Wildin, Jennifer Cuellar-Rodriguez, Amy P. Hsu, Sarah Dyack, Conrad V. Fernandez, Chan-Eng Chong, Milena Babic, Peter G. Bardy, Akiko Shimamura, Michael Y. Zhang, Tom Walsh, Steven M. Holland, Dennis D. Hickstein, Marshall S. Horwitz, Christopher N. Hahn, Hamish S. Scott, Natasha L. Harvey
Journal: Blood
Blood (2012) 119 (5): 1283–1291.
https://doi.org/10.1182/blood-2011-08-374363
Published: 2012
Includes: Supplemental data