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Sandrine Hirschi
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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

Proteomic evidence of specific IGKV1-8 association with cystic lung light chain deposition disease

Clinical Trials & Observations Brief Report
Mylène Camus, Sandrine Hirschi, Grégoire Prevot, Marie-Pierre Chenard, Hervé Mal, Marc Stern, Martine Reynaud-Gaubert, Julia Gilhodes, Odile Burlet-Schiltz, Pierre Brousset, Magali Colombat
Journal: Blood
Blood (2019) 133 (26): 2741–2744.
https://doi.org/10.1182/blood.2019898577
Published: 2019
Includes: Supplemental data