| 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 | 340 | 2021 |
| 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 | 276 | 2017 |
| 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 | 236 | 2021 |
| 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 | 175 | 2018 |
| 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 | 173 | 2018 |
| 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 | 170 | 2022 |
| 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 | 146 | 2018 |
| 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 | 132 | 2019 |
| 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 | 72 | 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, 488521, 2019 | 63 | 2019 |
| 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 | 55 | 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 | 46 | 2022 |
| 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 | 31 | 2016 |
| 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 | 28 | 2022 |
| 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 | 28 | 2020 |
| 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 | 28 | 2019 |
| 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 | 27 | 2021 |
| 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 | 26 | 2018 |
| 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 | 25 | 2021 |
| 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 | 24 | 2018 |
James LupskiBaylor College of MedicineVerifierad e-postadress på bcm.edu
