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Sushree S. Sahoo
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Journal Articles

Genetic and clinical spectrum of SAMD9 and SAMD9L syndromes: from variant interpretation to patient management

Available to Purchase
Sushree S. Sahoo, Miriam Erlacher, Marcin W. Wlodarski
Journal: Blood
Blood (2025) 145 (5): 475–485.
https://doi.org/10.1182/blood.2022017717
Published: 2025
Includes: Supplemental data
Journal Articles

Systematic Mapping of Gene-Editable Mutations in GATA2 and SAMD9/SAMD9L Syndromes

Free
Damian Krzyzanowski, Sushree S Sahoo, Lili Kotmayer, Masanori Yoshida, Majd Khiami, Alessandra Giorgetti, Shengdar Q Tsai, Senthil V Bhoopalan, Jonathan S Yen, Marcin W Wlodarski
Journal: Blood
Blood (2023) 142 (Supplement 1): 1362.
https://doi.org/10.1182/blood-2023-190982
Published: 2023
Journal Articles

Mutational Permutations of a Single Amino Acid Exert Divergent Phenotypic Effects in Human, Mice, and Cellular Models of SAMD9L Bone Marrow Failure Disorder

Free
Sushree S Sahoo, Charnise Goodings-Harris, Shondra Miller, Maria Angeles Lillo Osuna, Baranda S Hansen, Lei Han, Ti-Cheng Chang, Tim Lammens, Mattias Hofmans, Marta Derecka, Barbara De Moerloose, Marcin W Wlodarski
Journal: Blood
Blood (2022) 140 (Supplement 1): 2216–2217.
https://doi.org/10.1182/blood-2022-169400
Published: 2022
Journal Articles

Online Platform for SAMD9 and SAMD9L Variant Annotation and Phenotype Correlation

Free
Masanori Yoshida, Felicia Andresen, Hermann Yang, Sara Lewis, Miriam Erlacher, Dirk Lebrecht, Akiko Shimamura, Charlotte M. Niemeyer, Sushree S Sahoo, Marcin W Wlodarski
Journal: Blood
Blood (2022) 140 (Supplement 1): 5816–5817.
https://doi.org/10.1182/blood-2022-166742
Published: 2022
Journal Articles

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

Free
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