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Jennifer Stoddard
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Journal Articles

Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia

Francesco Saettini, Fabiola Guerra, Mario Mauri, Grazia Fazio, Cristina Bugarin, Manuel Quadri, Stefano Rebellato, Clizia Chinello, Lisa Pagani, Federica Malighetti, Luis González Gutiérrez-Solana, Vanna Denti, Fatemeh Emam Mousavi, Miquell Raspall-Chaure, Martin-Nalda Andrea, Estibaliz Barredo, David Adams, O'Leary Melanie, Precilla D'Souza, Ellen Macnamara, Sergio Rosenzweig, Hye Sun Kuehn, Jennifer Stoddard, Heather C Mefford, Giorgia Mandrile, Lisa Pavinato, Alfredo Brusco, Patricia Valentina Velez Santamaria, Aurora Pujol, Vincent Michaud, Agathe Roubertie, Zoe Nelson, Margaret P Adam, Bernice Lo, Holm Uhlig, Claire G Salter, Emma Baple, Andrew H Crosby, Sanil Bhatia, Fulvio Magni, Giuseppe Paglia, Giovanni Cazzaniga, Rocco Piazza, Andrea Biondi, Matteo Barberis
Journal: Blood
Blood (2023) 142 (Supplement 1): 153.
https://doi.org/10.1182/blood-2023-185551
Published: 2023
Journal Articles

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Clinical Trials & Observations
Ottavia M. Delmonte, Jenna R. E. Bergerson, Tomoki Kawai, Hye Sun Kuehn, David H. McDermott, Irene Cortese, Michael T. Zimmermann, A. Kerry Dobbs, Marita Bosticardo, Danielle Fink, Shamik Majumdar, Boaz Palterer, Francesca Pala, Nikita R. Dsouza, Marie Pouzolles, Naomi Taylor, Katherine R. Calvo, Stephen R. Daley, Daniel Velez, Anahita Agharahimi, Katherine Myint-Hpu, Lesia K. Dropulic, Jonathan J. Lyons, Steven M. Holland, Alexandra F. Freeman, Rajarshi Ghosh, Morgan B. Similuk, Julie E. Niemela, Jennifer Stoddard, Douglas B. Kuhns, Raul Urrutia, Sergio D. Rosenzweig, Magdalena A. Walkiewicz, Philip M. Murphy, Luigi D. Notarangelo
Journal: Blood
Blood (2021) 138 (12): 1019–1033.
https://doi.org/10.1182/blood.2020008629
Published: 2021
Includes: Supplemental data
Journal Articles

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Hye Sun Kuehn, Julie E. Niemela, Jennifer Stoddard, Sara Ciullini Mannurita, Tala Shahin, Shubham Goel, Mary Hintermeyer, Raul Jimenez Heredia, Mary Garofalo, Laura Lucas, Smriti Singh, Annalisa Tondo, Zachary Jacobs, William A. Gahl, Sylvain Latour, James Verbsky, John Routes, Charlotte Cunningham-Rundles, Kaan Boztug, Eleonora Gambineri, Thomas A. Fleisher, Shanmuganathan Chandrakasan, Sergio D. Rosenzweig
Journal: Blood
Blood (2021) 137 (3): 349–363.
https://doi.org/10.1182/blood.2020007292
Published: 2021
Includes: Supplemental data
Journal Articles

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea

Chi A. Ma, Liqiang Xi, Brian Cauff, Adam DeZure, Alexandra F. Freeman, Sophie Hambleton, Gary Kleiner, T. Ronan Leahy, Maureen O’Sullivan, Michelle Makiya, Grainne O’Regan, Stefania Pittaluga, Julie Niemela, Jennifer Stoddard, Sergio D. Rosenzweig, Mark Raffeld, Amy D. Klion, Joshua D. Milner
Journal: Blood
Blood (2017) 129 (5): 650–653.
https://doi.org/10.1182/blood-2016-09-737817
Published: 2017
Includes: Supplemental data
Journal Articles

Systemic Mastocytosis with Eosinophilia: A Novel Diagnostic Approach To Distinguish Imatinib-Resistant Kit D816V-Associated Mast Cell Disease from Imatinib-Sensitive FIP1L1/PDGFRA-Associated Hypereosinophilic Syndrome.

Todd M. Wilson, Irina Maric, Amy D. Klion, Cem Akin, Melody Carter, Weiming Fu, Jennifer Stoddard, Linda Scott, Arnold Kirshenbaum, Michael Fay, Thomas B. Nutman, Pierre Noel, Dean D. Metcalfe, Jamie Robyn
Journal: Blood
Blood (2006) 108 (11): 2683.
https://doi.org/10.1182/blood.V108.11.2683.2683
Published: 2006
Journal Articles

Detection of c-Kit Mutation in Peripheral Blood vs. Bone Marrow Aspirates in Patients with Systemic Mastocytosis: Comparison Study of Pathological and Clinical Laboratory Findings in Patients with and without Detectable c-Kit Mutation in the Peripheral Blood.

Irina Maric, MD, Jamie Robyn, M.D., Ph.D., Weiming Fu, M.D., Jennifer Stoddard, Dean D. Metcalfe, M.D., Pierre Noel, M.D.
Journal: Blood
Blood (2006) 108 (11): 3596.
https://doi.org/10.1182/blood.V108.11.3596.3596
Published: 2006