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Journal Articles

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Jiarna R. Zerella, Claire C. Homan, Peer Arts, Xuzhu Lin, Sam J. Spinelli, Parvathy Venugopal, Milena Babic, Peter J. Brautigan, Lynda Truong, Luis Arriola-Martinez, Sarah Moore, Rachel Hollins, Wendy T. Parker, Hung Nguyen, Karin S. Kassahn, Susan Branford, Simone Feurstein, Lise Larcher, Flore Sicre de Fontbrune, Serwet Demirdas, Sonja de Munnik, Hélène Antoine-Poirel, Benedicte Brichard, Sahar Mansour, Kristiana Gordon, Marcin W. Wlodarski, Ashwin Koppayi, Sara Dobbins, Pim G. N. J. Mutsaers, Kim E. Nichols, Ninad Oak, Desiree DeMille, Rong Mao, Ali Crawford, Julie McCarrier, Donald Basel, Josue Flores-Daboub, Michael W. Drazer, Kerry Phillips, Nicola K. Poplawski, Graeme M. Birdsey, Daniela Pirri, Pia Ostergaard, Annet Simons, Lucy A. Godley, David M. Ross, Devendra K. Hiwase, Jean Soulier, Anna L. Brown, Catherine L. Carmichael, Hamish S. Scott, Christopher N. Hahn
Journal: Blood
Blood (2024) 144 (17): 1765–1780.
https://doi.org/10.1182/blood.2024024607
Published: 2024
Includes: Supplemental data
Journal Articles

Congenital Erythrocytosis Due to Novel CMTR1 K769L Mutation Has Augmented Hypoxia Signaling and Features of Both Primary and Secondary Erythrocytosis

Jihyun Song, Lorenzo D. Botto, Beverly Schaefer, Soo Jin Kim, Tatiana Tvrdik, Rong Mao, Undiagnosed Diseases Network (UDN), Josef T. Prchal
Journal: Blood
Blood (2022) 140 (Supplement 1): 1243–1244.
https://doi.org/10.1182/blood-2022-167863
Published: 2022