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M. Cecilia Poli
M. Cecilia Poli
Universidad del Desarrollo and Baylor College of Medicine
在 udd.cl 的电子邮件经过验证
标题
引用次数
引用次数
年份
Coronavirus disease 2019 in patients with inborn errors of immunity: an international study
I Meyts, G Bucciol, I Quinti, B Neven, A Fischer, E Seoane, ...
Journal of Allergy and Clinical Immunology 147 (2), 520-531, 2021
3452021
Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders
A Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ...
Journal of Allergy and Clinical Immunology 139 (1), 232-245, 2017
2832017
Multisystem inflammatory syndrome in children and adults (MIS-C/A): Case definition & guidelines for data collection, analysis, and presentation of immunization safety data
TP Vogel, KA Top, C Karatzios, DC Hilmers, LI Tapia, P Moceri, ...
Vaccine 39 (22), 3037-3049, 2021
2432021
Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19
K Sacco, R Castagnoli, S Vakkilainen, C Liu, OM Delmonte, C Oguz, ...
Nature medicine 28 (5), 1050-1062, 2022
1902022
Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles
Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ...
The American Journal of Human Genetics 103 (2), 171-187, 2018
1782018
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
IK Chinn, OS Eckstein, EC Peckham-Gregory, BR Goldberg, LR Forbes, ...
Blood, The Journal of the American Society of Hematology 132 (1), 89-100, 2018
1782018
Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome
MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ...
The American Journal of Human Genetics 102 (6), 1126-1142, 2018
1512018
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
B Dorjbal, JR Stinson, CA Ma, MA Weinreich, B Miraghazadeh, ...
Journal of Allergy and Clinical Immunology 143 (4), 1482-1495, 2019
1362019
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease
SA Cook, WA Comrie, MC Poli, M Similuk, AJ Oler, AJ Faruqi, DB Kuhns, ...
Science 369 (6500), 202-207, 2020
812020
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I …
K Cetin Gedik, L Lamot, M Romano, E Demirkaya, D Piskin, S Torreggiani, ...
Arthritis & Rheumatology 74 (5), 735-751, 2022
662022
Contribution of the unfolded protein response (UPR) to the pathogenesis of proteasome-associated autoinflammatory syndromes (PRAAS)
F Ebstein, MC Poli Harlowe, M Studencka-Turski, E Krüger
Frontiers in immunology 10, 488521, 2019
662019
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
502022
Protein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24
S Davidson, CH Yu, A Steiner, F Ebstein, PJ Baker, V Jarur-Chamy, ...
Science Immunology 7 (68), eabi6763, 2022
362022
IL-2 in the tumor microenvironment is necessary for Wiskott-Aldrich syndrome protein deficient NK cells to respond to tumors in vivo
JS Kritikou, CIM Dahlberg, MAP Baptista, AK Wagner, PP Banerjee, ...
Scientific reports 6 (1), 30636, 2016
312016
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
F Saettini, C Poli, J Vengoechea, S Bonanomi, JC Orellana, G Fazio, ...
Blood, The Journal of the American Society of Hematology 137 (4), 493-499, 2021
292021
Pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 treated with tocilizumab
C Niño-Taravilla, YP Espinosa-Vielma, H Otaola-Arca, C Poli-Harlowe, ...
Pediatric Reports 12 (3), 142-148, 2020
282020
Failing to make ends meet: the broad clinical spectrum of DNA ligase IV deficiency. Case series and review of the literature
AT Staines Boone, IK Chinn, C Alaez-Versón, ...
Frontiers in Pediatrics 6, 426, 2019
282019
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability
S Neuser, B Brechmann, G Heimer, I Brösse, S Schubert, L O'Grady, ...
Human mutation 42 (6), 762-776, 2021
272021
Baylor-Hopkins Center for Mendelian Genomics Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles
Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ...
Am. J. Hum. Genet 103, 171-187, 2018
262018
Failing to make ends meet: the broad clinical spectrum of DNA ligase IV deficiency. case series and review of the literature
ATS Boone, IK Chinn, C Alaez-Versón, MA Yamazaki-Nakashimada, ...
Frontiers in Pediatrics 6, 2018
242018
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