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Page 1
HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.
Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group; de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium. Ombrello MJ, et al. Among authors: cobb j. Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23. Proc Natl Acad Sci U S A. 2015. PMID: 26598658 Free PMC article.
IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis.
Arthur VL, Shuldiner E, Remmers EF, Hinks A, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Oliveira S, Yeung RSM, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rösen-Wolff A, Minden K, Szymanski AM; INCHARGE Consortium; Thomson W, Kastner DL, Woo P, Ombrello MJ. Arthur VL, et al. Arthritis Rheumatol. 2018 Aug;70(8):1319-1330. doi: 10.1002/art.40498. Epub 2018 Jun 28. Arthritis Rheumatol. 2018. PMID: 29609200 Free PMC article.
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.
Correia Marques M, Rubin D, Shuldiner EG, Datta M, Schmitz E, Gutierrez Cruz G, Patt A, Bennett E, Grom A, Foell D, Gattorno M, Bohnsack J, Yeung RSM, Prahalad S, Mellins E, Anton J, Len CA, Oliveira S, Woo P, Ozen S, Deng Z, Ombrello MJ; INCHARGE Consortium. Correia Marques M, et al. Arthritis Rheumatol. 2024 Oct;76(10):1566-1572. doi: 10.1002/art.42938. Epub 2024 Aug 9. Arthritis Rheumatol. 2024. PMID: 38937141
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee; Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A. D'Gama AM, et al. Among authors: cobb j. Lancet Neurol. 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. Lancet Neurol. 2023. PMID: 37596007 Free article.
Critical Data for Critical Care: A Primer on Leveraging Electronic Health Record Data for Research From Society of Critical Care Medicine's Panel on Data Sharing and Harmonization.
Heavner SF, Kumar VK, Anderson W, Al-Hakim T, Dasher P, Armaignac DL, Clermont G, Cobb JP, Manion S, Remy KE, Reuter-Rice K, Haendel M. Heavner SF, et al. Among authors: cobb jp. Crit Care Explor. 2024 Nov 15;6(11):e1179. doi: 10.1097/CCE.0000000000001179. eCollection 2024 Nov. Crit Care Explor. 2024. PMID: 39559555 Free PMC article. Review.
A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival.
Abassah-Oppong S, Zoia M, Mannion BJ, Rouco R, Tissières V, Spurrell CH, Roland V, Darbellay F, Itum A, Gamart J, Festa-Daroux TA, Sullivan CS, Kosicki M, Rodríguez-Carballo E, Fukuda-Yuzawa Y, Hunter RD, Novak CS, Plajzer-Frick I, Tran S, Akiyama JA, Dickel DE, Lopez-Rios J, Barozzi I, Andrey G, Visel A, Pennacchio LA, Cobb J, Osterwalder M. Abassah-Oppong S, et al. Among authors: cobb j. Nat Commun. 2024 Oct 10;15(1):8793. doi: 10.1038/s41467-024-53009-7. Nat Commun. 2024. PMID: 39389973 Free PMC article.
929 results