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Page 1
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.
Kaufman KM, Linghu B, Szustakowski JD, Husami A, Yang F, Zhang K, Filipovich AH, Fall N, Harley JB, Nirmala NR, Grom AA. Kaufman KM, et al. Among authors: harley jb. Arthritis Rheumatol. 2014 Dec;66(12):3486-95. doi: 10.1002/art.38793. Arthritis Rheumatol. 2014. PMID: 25047945 Free PMC article.
The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.
Patel ZH, Kottyan LC, Lazaro S, Williams MS, Ledbetter DH, Tromp H, Rupert A, Kohram M, Wagner M, Husami A, Qian Y, Valencia CA, Zhang K, Hostetter MK, Harley JB, Kaufman KM. Patel ZH, et al. Among authors: harley jb. Front Genet. 2014 Feb 12;5:16. doi: 10.3389/fgene.2014.00016. eCollection 2014. Front Genet. 2014. PMID: 24575121 Free PMC article.
X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.
Liu K, Kurien BT, Zimmerman SL, Kaufman KM, Taft DH, Kottyan LC, Lazaro S, Weaver CA, Ice JA, Adler AJ, Chodosh J, Radfar L, Rasmussen A, Stone DU, Lewis DM, Li S, Koelsch KA, Igoe A, Talsania M, Kumar J, Maier-Moore JS, Harris VM, Gopalakrishnan R, Jonsson R, Lessard JA, Lu X, Gottenberg JE, Anaya JM, Cunninghame-Graham DS, Huang AJW, Brennan MT, Hughes P, Illei GG, Miceli-Richard C, Keystone EC, Bykerk VP, Hirschfield G, Xie G, Ng WF, Nordmark G, Eriksson P, Omdal R, Rhodus NL, Rischmueller M, Rohrer M, Segal BM, Vyse TJ, Wahren-Herlenius M, Witte T, Pons-Estel B, Alarcon-Riquelme ME, Guthridge JM, James JA, Lessard CJ, Kelly JA, Thompson SD, Gaffney PM, Montgomery CG, Edberg JC, Kimberly RP, Alarcón GS, Langefeld CL, Gilkeson GS, Kamen DL, Tsao BP, McCune WJ, Salmon JE, Merrill JT, Weisman MH, Wallace DJ, Utset TO, Bottinger EP, Amos CI, Siminovitch KA, Mariette X, Sivils KL, Harley JB, Scofield RH. Liu K, et al. Among authors: harley jb. Arthritis Rheumatol. 2016 May;68(5):1290-1300. doi: 10.1002/art.39560. Arthritis Rheumatol. 2016. PMID: 26713507 Free PMC article.
Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis.
Kawai VK, Shi M, Feng Q, Chung CP, Liu G, Cox NJ, Jarvik GP, Lee MTM, Hebbring SJ, Harley JB, Kaufman KM, Namjou B, Larson E, Gordon AS, Roden DM, Stein CM, Mosley JD; eMERGE Investigators. Kawai VK, et al. Among authors: harley jb. Arthritis Rheumatol. 2020 Sep;72(9):1483-1492. doi: 10.1002/art.41291. Epub 2020 Aug 6. Arthritis Rheumatol. 2020. PMID: 32307929 Free PMC article.
Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.
Alarcón-Riquelme ME, Ziegler JT, Molineros J, Howard TD, Moreno-Estrada A, Sánchez-Rodríguez E, Ainsworth HC, Ortiz-Tello P, Comeau ME, Rasmussen A, Kelly JA, Adler A, Acevedo-Vázquez EM, Cucho-Venegas JM, García-De la Torre I, Cardiel MH, Miranda P, Catoggio LJ, Maradiaga-Ceceña M, Gaffney PM, Vyse TJ, Criswell LA, Tsao BP, Sivils KL, Bae SC, James JA, Kimberly RP, Kaufman KM, Harley JB, Esquivel-Valerio JA, Moctezuma JF, García MA, Berbotto GA, Babini AM, Scherbarth H, Toloza S, Baca V, Nath SK, Aguilar Salinas C, Orozco L, Tusié-Luna T, Zidovetzki R, Pons-Estel BA, Langefeld CD, Jacob CO. Alarcón-Riquelme ME, et al. Among authors: harley jb. Arthritis Rheumatol. 2016 Apr;68(4):932-43. doi: 10.1002/art.39504. Arthritis Rheumatol. 2016. PMID: 26606652 Free PMC article.
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
Valencia CA, Husami A, Holle J, Johnson JA, Qian Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H, Wang L, Li X, Fisher R, Tan T, Hogart Begtrup A, Collins K, Wusik KA, Neilson D, Burrow T, Schorry E, Hopkin R, Keddache M, Harley JB, Kaufman KM, Zhang K. Valencia CA, et al. Among authors: harley jb. Front Pediatr. 2015 Aug 3;3:67. doi: 10.3389/fped.2015.00067. eCollection 2015. Front Pediatr. 2015. PMID: 26284228 Free PMC article.
Evaluation of TRAF6 in a large multiancestral lupus cohort.
Namjou B, Choi CB, Harley IT, Alarcón-Riquelme ME; BIOLUPUS Network; Kelly JA, Glenn SB, Ojwang JO, Adler A, Kim K, Gallant CJ, Boackle SA, Criswell LA, Kimberly RP, Brown EE, Edberg J, Alarcón GS, Stevens AM, Jacob CO, Gilkeson GS, Kamen DL, Tsao BP, Anaya JM, Kim EM, Park SY, Sung YK, Guthridge JM, Merrill JT, Petri M, Ramsey-Goldman R, Vilá LM, Niewold TB, Martin J, Pons-Estel BA; Genoma en Lupus Network; Vyse TJ, Freedman BI, Moser KL, Gaffney PM, Williams AH, Comeau ME, Reveille JD, Kang C, James JA, Scofield RH, Langefeld CD, Kaufman KM, Harley JB, Bae SC. Namjou B, et al. Among authors: harley it, harley jb. Arthritis Rheum. 2012 Jun;64(6):1960-9. doi: 10.1002/art.34361. Epub 2012 Jan 9. Arthritis Rheum. 2012. PMID: 22231568 Free PMC article.
Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.
Sherrill JD, Kc K, Wang X, Wen T, Chamberlin A, Stucke EM, Collins MH, Abonia JP, Peng Y, Wu Q, Putnam PE, Dexheimer PJ, Aronow BJ, Kottyan LC, Kaufman KM, Harley JB, Huang T, Rothenberg ME. Sherrill JD, et al. Among authors: harley jb. JCI Insight. 2018 Apr 19;3(8):e99922. doi: 10.1172/jci.insight.99922. eCollection 2018 Apr 19. JCI Insight. 2018. PMID: 29669943 Free PMC article.
511 results