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Cecilia Poli
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Journal Articles

Investigating Neutropenia in FNIP1 Deficiency: A CRISPR/Cas9 Model in HL-60 Cells

Francesco Saettini, Fabiola Guerra, Benedetta Elena Di Majo, Mario Mauri, Federica Malighetti, Angela Maria Savino, Stefano Rebellato, Arnalda Lanfranchi, Cristina Bugarin, Cecilia Poli, Elma Nievas, Tim Niehues, Peter McNaughton, Selami Ulaş, Sven Kracker, Rocco Piazza, Grazia Fazio, Andrea Biondi
Journal: Blood
Blood (2024) 144 (Supplement 1): 2526.
https://doi.org/10.1182/blood-2024-209621
Published: 2024
Journal Articles

HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease

Caridad Martinez, Frédéric Ebstein, Sarah K. Nicholas, Marietta De Guzman, Lisa R. Forbes, Ottavia M. Delmonte, Marita Bosticardo, Riccardo Castagnoli, Robert Krance, Luigi D. Notarangelo, Elke Krüger, Jordan S. Orange, M. Cecilia Poli
Journal: Blood
Blood (2021) 138 (19): 1896–1901.
https://doi.org/10.1182/blood.2021011005
Published: 2021
Includes: Supplemental data
Journal Articles

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Brief Report
Francesco Saettini, Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio C. Orellana, Grazia Fazio, Fred H. Rodriguez, III, Loreani P. Noguera, Claire Booth, Valentina Jarur-Chamy, Marissa Shams, Maria Iascone, Maja Vukic, Serena Gasperini, Manuel Quadri, Amairelys Barroeta Seijas, Elizabeth Rivers, Mario Mauri, Raffaele Badolato, Gianni Cazzaniga, Cristina Bugarin, Giuseppe Gaipa, Wilma G. M. Kroes, Daniele Moratto, Monique M. van Oostaijen-ten Dam, Frank Baas, Silvère van der Maarel, Rocco Piazza, Zeynep H. Coban-Akdemir, James R. Lupski, Bo Yuan, Ivan K. Chinn, Lucia Daxinger, Andrea Biondi
Journal: Blood
Blood (2021) 137 (4): 493–499.
https://doi.org/10.1182/blood.2020006441
Published: 2021
Includes: Supplemental data
Journal Articles

Genomic Characterization of a Pediatric Cohort with Non-Malignant Lymphoproliferative Disorders

Olive S. Eckstein, MD, Nitya Gulati, MBBS, Lisa Forbes, MD, Erin Peckham-Gregory, PhD MPH, Nmazuo Wudo Ozuah, MBBS, M. Cecilia Poli, MD, PhD, Tiphanie Vogel, Emily M Mace, PhD, Jordan S Orange, MD PhD, Jason Caldwell, D.O., Stephen Jolles, Fracesco Saettini, Hey J Chong, Asbjørg Stray-Pedersen, Helen E. Heslop, MD DSc, Kala Kamdar, MD, Robert A. Krance, MD, Swati Naik, MBBS, Tami D John, MD, Rayne H. Rouce, MD, Donna Muzny, Shalini Jhangiani, Richard Gibbs, Zeynep Coban-Akdemir, James Lupski, Kenneth L. McClain, MD PhD, Carl E. Allen, MD PhD, Ivan Chinn
Journal: Blood
Blood (2019) 134 (Supplement_1): 83.
https://doi.org/10.1182/blood-2019-131884
Published: 2019
Journal Articles

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

Ivan K. Chinn, Olive S. Eckstein, Erin C. Peckham-Gregory, Baruch R. Goldberg, Lisa R. Forbes, Sarah K. Nicholas, Emily M. Mace, Tiphanie P. Vogel, Harshal A. Abhyankar, Maria I. Diaz, Helen E. Heslop, Robert A. Krance, Caridad A. Martinez, Trung C. Nguyen, Dalia A. Bashir, Jordana R. Goldman, Asbjørg Stray-Pedersen, Luis A. Pedroza, M. Cecilia Poli, Juan C. Aldave-Becerra, Sean A. McGhee, Waleed Al-Herz, Aghiad Chamdin, Zeynep H. Coban-Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Tram N. Cao, Diana N. Hong, Richard A. Gibbs, James R. Lupski, Jordan S. Orange, Kenneth L. McClain, Carl E. Allen
Journal: Blood
Blood (2018) 132 (1): 89–100.
https://doi.org/10.1182/blood-2017-11-814244
Published: 2018
Includes: Supplemental data