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Journal Articles

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C. Porter, Sarah A. Jackson, Sioban Keel, Michael Chicka, Anna L. Brown, Chimene Kesserwan, Anupriya Agarwal, Minjie Luo, Zejuan Li, Justyne E. Ross, Panagiotis Baliakas, Daniel Pineda-Alvarez, Courtney D. DiNardo, Alison A. Bertuch, Nikita Mehta, Tom Vulliamy, Ying Wang, Kim E. Nichols, Luca Malcovati, Michael F. Walsh, Lesley H. Rawlings, Shannon K. McWeeney, Jean Soulier, Anna Raimbault, Mark J. Routbort, Liying Zhang, Gabriella Ryan, Nancy A. Speck, Sharon E. Plon, David Wu, Lucy A. Godley
Journal: Blood Advances
Blood Adv (2019) 3 (20): 2962–2979.
https://doi.org/10.1182/bloodadvances.2019000644
Published: 2019
Includes: Supplemental data
Journal Articles

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

Judith Reina-Castillón, Roser Pujol, Marcos López-Sánchez, Benjamín Rodríguez-Santiago, Miriam Aza-Carmona, Juan Ramón González, José Antonio Casado, Juan Antonio Bueren, Julián Sevilla, Isabel Badel, Albert Català, Cristina Beléndez, María Ángeles Dasí, Cristina Díaz de Heredia, Jean Soulier, Detlev Schindler, Luis Alberto Pérez-Jurado, Jordi Surrallés
Journal: Blood Advances
Blood Adv (2017) 1 (5): 319–329.
https://doi.org/10.1182/bloodadvances.2016000943
Published: 2017
Includes: Supplemental data
Journal Articles

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations

Fabien Touzot, Laetitia Kermasson, Laurent Jullien, Despina Moshous, Christelle Ménard, Aydan Ikincioğullari, Figen Doğu, Sinan Sari, Vannina Giacobbi-Milet, Amos Etzioni, Jean Soulier, Arturo Londono-Vallejo, Alain Fischer, Isabelle Callebaut, Jean-Pierre de Villartay, Thierry Leblanc, Caroline Kannengiesser, Patrick Revy
Journal: Blood Advances
Blood Adv (2016) 1 (1): 36–46.
https://doi.org/10.1182/bloodadvances.2016001313
Published: 2016
Includes: Supplemental data