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Brenda Briones
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Journal Articles

Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

Monika I. Linder, Yoko Mizoguchi, Sebastian Hesse, Gergely Csaba, Megumi Tatematsu, Marcin Łyszkiewicz, Natalia Ziȩtara, Tim Jeske, Maximilian Hastreiter, Meino Rohlfs, Yanshan Liu, Piotr Grabowski, Kaarin Ahomaa, Daniela Maier-Begandt, Marko Schwestka, Vahid Pazhakh, Abdulsalam I. Isiaku, Brenda Briones Miranda, Piers Blombery, Megumu K. Saito, Ejona Rusha, Zahra Alizadeh, Zahra Pourpak, Masao Kobayashi, Nima Rezaei, Ekrem Unal, Fabian Hauck, Micha Drukker, Barbara Walzog, Juri Rappsilber, Ralf Zimmer, Graham J. Lieschke, Christoph Klein
Journal: Blood
Blood (2023) 141 (6): 645–658.
https://doi.org/10.1182/blood.2022016783
Published: 2023
Includes: Supplemental data
Journal Articles

Biallelic Deleterious Germline SH2B3 Variants Cause a Novel Clinical Syndrome of Myeloproliferation and Multi-Organ Autoimmunity

Piers Blombery, Vahid Pazhakh, Adriana Albuquerque, Jesmeen Maimaris, Lingge Tu, Brenda Briones, Florence Evans, Ella Thompson, Ben Carpenter, Julie Curtin, Jonathan Lambert, Siobhan Burns, Graham John Lieschke
Journal: Blood
Blood (2022) 140 (Supplement 1): 992–993.
https://doi.org/10.1182/blood-2022-163097
Published: 2022