Follow
M. Cecilia Poli
M. Cecilia Poli
Universidad del Desarrollo and Baylor College of Medicine
Verified email at udd.cl
Title
Cited by
Cited by
Year
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
3422021
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
2792017
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
2412021
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
1802022
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
1762018
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
1752018
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
1462018
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
1342019
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
742020
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
632019
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
582022
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
472022
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
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
302022
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
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
272021
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
262021
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
The system can't perform the operation now. Try again later.
Articles 1–20