M. Cecilia Poli
Universidad del Desarrollo
H-index: 20
Latin America-Chile
Top articles of M. Cecilia Poli
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile | European Journal of Human Genetics | M Cecilia Poli Boris Rebolledo-Jaramillo Catalina Lagos Joan Orellana Gabriela Moreno | 2024/1/4 |
Inborn errors of immunity: A field without frontiers | Giorgia Bucciol Selket Delafontaine Isabelle Meyts Cecilia Poli | 2024/3 | |
Proteasome disorders and inborn errors of immunity | M Cecilia Poli | 2024/3 | |
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome | The Journal of Clinical Investigation | Selket Delafontaine Alberto Iannuzzo Tarin M Bigley Bram Mylemans Ruchit Rana | 2024/2/15 |
P-53 NATURAL KILLER CELLS OF EARLY STAGES OF METABOLIC FATTY LIVER DISEASE PRESENT REDUCED CYTOTOXICITY AGAINST TUMOR CELLS. CASE-CONTROL ANALYSIS | Annals of Hepatology | Nixa Paola Olivares Daniel Ernst Maria Cecilia Poli Gustavo Pinto Francisca Allendes | 2024/2/1 |
Disparities in diagnosis, access to specialist care, and treatment for inborn errors of immunity | The Journal of Allergy and Clinical Immunology: In Practice | Monica G Lawrence Nicholas L Rider Charlotte Cunningham-Rundles M Cecilia Poli | 2024/2/1 |
Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway | Authorea Preprints | Tom Le Voyer Adrian Gervais Jérémie Rosain Audrey Parent Axel Cederholm | 2023/1/9 |
Increased risk of long-term post-COVID neurologic symptoms in women | Journal of the Neurological Sciences | Carlos Delfino Cecilia Poli Cecilia Vial Pablo Vial Catalina Arbat | 2023/12/1 |
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency | NATURE | Stéphanie Boisson-Dupuis Eric Oksenhendler Satoshi Okada Oana Caluseriu Mathilde Valeria Ursini | 2023/11/8 |
Safety, Tolerability, Bioavailability, and Biological Activity of Inhaled Interferon-α2b in Healthy Adults: The IN2COVID Phase I Randomized Trial | Clinical Drug Investigation | Diego Garcia-Huidobro Carolina Iturriaga Guillermo Perez-Mateluna Paula Fajuri Nicolas Severino | 2023/6 |
A Third Dose of SARS-CoV-2 mRNA Vaccine Improves Immune Response in Chronic Kidney Disease Patients | Vaccines | Maria Cecilia Poli Cecilia Vial Emma Rey-Jurado Natalia González Lina Jimena Cortés | 2023/5/22 |
Deep immune profiling uncovers novel associations with clinical phenotypes of multisystem inflammatory syndrome in children (MIS-C) | Annals of the rheumatic diseases | Christopher John Redmond Moses M Kitakule Aran Son McKella Sylvester Keith Sacco | 2023/3/1 |
The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS | Annals of the rheumatic diseases | Kader Cetin Gedik Lovro Lamot Micol Romano Erkan Demirkaya David Piskin | 2022/5 |
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders | Journal of Allergy and Clinical Immunology | Lisa R Forbes Olive S Eckstein Nitya Gulati Erin C Peckham-Gregory Nmazuo W Ozuah | 2022/2/1 |
Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19 | JCI insight | Carmelo Carmona-Rivera Yu Zhang Kerry Dobbs Tovah E Markowitz Clifton L Dalgard | 2022/8/8 |
Centers for Mendelian Genomics: A decade of facilitating gene discovery | Samantha M Baxter Jennifer E Posey Nicole J Lake Nara Sobreira Jessica X Chong | 2022/4/1 | |
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia | JCI insight | Matilde I Conte M Cecilia Poli Angelo Taglialatela Giuseppe Leuzzi Ivan K Chinn | 2022/11/11 |
Beyond founder and truncting variants in TECPR2-associated disorder | Sonja Neuser Barbara Brechmann Gali Heimer Ines Brosse Susanna Schubert | 2022 | |
Deep immunophenotyping reveals biomarkers of multisystemic inflammatory syndrome in children in a Latin American cohort | Journal of Allergy and Clinical Immunology | Emma Rey-Jurado Yazmin Espinosa Camila Astudillo Lina Jimena Cortés Juan Hormazabal | 2022/11/1 |
Autoantibodies against proteins previously associated with autoimmunity in adult and pediatric patients with COVID-19 and children with MIS-C | Frontiers in immunology | Peter D Burbelo Riccardo Castagnoli Chisato Shimizu Ottavia M Delmonte Kerry Dobbs | 2022/3/11 |
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