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Maria Spies
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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

RPA1 Gain of Function Causes Human Short Telomere Syndrome with Revertant Somatic Mosaicism

Richa Sharma, MD, Sushree Sangita Sahoo, PhD, Masayoshi Honda, Charnise Goodings-Harris, PhD, Victor Pastor, PhD, Hauke Busch, PhD, Melanie Börries, PhD, Fabian Beier, MD, Miriam Erlacher, MD PhD, Melchior Lauten, Marc Wold, PhD, Maria Spies, PhD, Charlotte M. Niemeyer, MD, Marcin Wlodarski, MD PhD
Journal: Blood
Blood (2020) 136 (Supplement 1): 36–37.
https://doi.org/10.1182/blood-2020-143006
Published: 2020