| A Third Dose of SARS-CoV-2 mRNA Vaccine Improves Immune Response in Chronic Kidney Disease Patients MC Poli Harlowe, MC Vial Cox, E Rey, N González, L Cortés, ... | | 2023 |
| A Third Dose of SARS-CoV-2 mRNA Vaccine Improves Immune Response in Chronic Kidney Disease Patients MC Poli, C Vial, E Rey-Jurado, N González, LJ Cortés, J Hormazabal, ... Vaccines 11 (5), 1012, 2023 | 4 | 2023 |
| A140: Pediatric Rheumatology Admissions in Chile, 2001–2010: Unavailability of a Pediatric Rheumatologist May Hinder a Correct Diagnosis C Poli, L De la Puente, R Hoyos‐Bachiloglu, J Cerda, A Borzutzky Arthritis & Rheumatology 66, S183-S183, 2014 | 3 | 2014 |
| 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 | 29 | 2021 |
| Autoantibodies against proteins previously associated with autoimmunity in adult and pediatric patients with COVID-19 and children with MIS-C PD Burbelo, R Castagnoli, C Shimizu, OM Delmonte, K Dobbs, ... Frontiers in immunology 13, 841126, 2022 | 23 | 2022 |
| Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency T Le Voyer, AV Parent, X Liu, A Cederholm, A Gervais, J Rosain, ... Nature 623 (7988), 803-813, 2023 | 17 | 2023 |
| Autoantibodies detected in MIS-C patients due to administration of intravenous immunoglobulin PD Burbelo, R Castagnoli, C Shimizu, OM Delmonte, K Dobbs, ... Medrxiv, 2021.11. 03.21265769, 2021 | 4 | 2021 |
| Baylor-Hopkins Center for Mendelian G, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB (2018) Identifying genes whose mutant transcripts … Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... Am J Hum Genet 103 (2), 171-87, 0 | 7 | |
| 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 | 27 | 2018 |
| Beyond founder and truncting variants in TECPR2-associated disorder TCM CARO, MG REPETTO LISBOA, MCB POLI HARLOWE | | 2022 |
| Beyond founder and truncting variants in TECPR2-associated disorder S Neuser, B Brechmann, G Heimer, I Brosse, S Schubert, L O'Grady, ... | | 2022 |
| 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 | 51 | 2022 |
| Clinical manifestations of SARS-CoV-2 infection in children in the middle of pandemic season in a pediatric tertiary center. Report of local COVID Clinical Committee, Hospital … F Cofre, J Mackenney, C Poli, M Riquelme, C Carvajal, P Alvarez, ... Revista Chilena de Infectologia: Organo Oficial de la Sociedad Chilena de …, 2020 | 2 | 2020 |
| 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 | 27 | 2021 |
| Clinically Unsolvable Autoinflammatory Disorder Diagnosed by RNA and Long Read Sequencing J Nguyen¹, MM DeGuzman, J Xu, S Wu, P Rosillo, C Martinez⁴, ... JOURNAL OF CLINICAL IMMUNOLOGY 41 (SUPPL 1), S13-S13, 2021 | | 2021 |
| COMBINED TARGETING OF LXR AND NF-kappa B AS A TREATMENT OF ATOPIC DERMATITIS C Cabalin, R Rojas-Espinoza, J Jose Nunez-Rosales, I Vera, V Toro, ... ACTA DERMATO-VENEREOLOGICA 102, 62-62, 2022 | | 2022 |
| Compromiso cardiovascular en pacientes con Síndrome Inflamatorio Pediátrico Multisistémico, asociado a infección por SARS-CoV-2 P Álvarez, V Acevedo, ML Valenzuela, V Montes, P Aroca, C García, ... Revista chilena de cardiología 39 (3), 208-215, 2020 | 12 | 2020 |
| 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, 2756, 2019 | 67 | 2019 |
| 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 | 346 | 2021 |
| CRISPR/Cas9 β-globin Gene Targeting in Human Haematopoietic Stem Cells MC Poli, J Orange Pediatrics 140 (Supplement_3), S226-S227, 2017 | | 2017 |
James LupskiBaylor College of Medicine在 bcm.edu 的电子邮件经过验证
