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Items: 1 to 50 of 130

1.

Complete Tracheal Ring Deformity: A Translational Genomics Approach to Pathogenesis.

Sinner DI, Carey B, Zgherea D, Kaufman KM, Leesman L, Wood RE, Rutter MJ, de Alarcon A, Elluru RG, Harley JB, Whitsett JA, Trapnell BC.

Am J Respir Crit Care Med. 2019 Jun 19. doi: 10.1164/rccm.201809-1626OC. [Epub ahead of print]

PMID:
31215789
2.

Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans.

Hanscombe KB, Morris DL, Noble JA, Dilthey AT, Tombleson P, Kaufman KM, Comeau M, Langefeld CD, Alarcon-Riquelme ME, Gaffney PM, Jacob CO, Sivils KL, Tsao BP, Alarcon GS, Brown EE, Croker J, Edberg J, Gilkeson G, James JA, Kamen DL, Kelly JA, McCune J, Merrill JT, Petri M, Ramsey-Goldman R, Reveille JD, Salmon JE, Scofield H, Utset T, Wallace DJ, Weisman MH, Kimberly RP, Harley JB, Lewis CM, Criswell LA, Vyse TJ.

Hum Mol Genet. 2018 Nov 1;27(21):3813-3824. doi: 10.1093/hmg/ddy280.

3.

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.

Patel ZH, Lu X, Miller D, Forney CR, Lee J, Lynch A, Schroeder C, Parks L, Magnusen AF, Chen X, Pujato M, Maddox A, Zoller EE, Namjou B, Brunner HI, Henrickson M, Huggins JL, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath SK, Stevens AM, Freedman BI, Pons-Estel BA, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Martin J, Reveille JD, Anaya JM, James JA, Sivils KL, Criswell LA, Vilá LM, Petri M, Scofield RH, Kimberly RP, Edberg JC, Ramsey-Goldman R, Bang SY, Lee HS, Bae SC, Boackle SA, Cunninghame Graham D, Vyse TJ, Merrill JT, Niewold TB, Ainsworth HC, Silverman ED, Weisman MH, Wallace DJ, Raj P, Guthridge JM, Gaffney PM, Kelly JA, Alarcón-Riquelme ME, Langefeld CD, Wakeland EK, Kaufman KM, Weirauch MT, Harley JB, Kottyan LC.

Hum Mol Genet. 2018 Jul 1;27(13):2392-2404. doi: 10.1093/hmg/ddy140.

4.

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.

JCI Insight. 2018 Apr 19;3(8). pii: 99922. doi: 10.1172/jci.insight.99922. eCollection 2018 Apr 19.

5.

Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity.

Harley JB, Chen X, Pujato M, Miller D, Maddox A, Forney C, Magnusen AF, Lynch A, Chetal K, Yukawa M, Barski A, Salomonis N, Kaufman KM, Kottyan LC, Weirauch MT.

Nat Genet. 2018 May;50(5):699-707. doi: 10.1038/s41588-018-0102-3. Epub 2018 Apr 16.

6.

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.

DiStasio A, Driver A, Sund K, Donlin M, Muraleedharan RM, Pooya S, Kline-Fath B, Kaufman KM, Prows CA, Schorry E, Dasgupta B, Stottmann RW.

Hum Mol Genet. 2017 Dec 15;26(24):4836-4848. doi: 10.1093/hmg/ddx362.

7.

Genome-wide association study evaluating single-nucleotide polymorphisms and outcomes in patients with advanced stage serous ovarian or primary peritoneal cancer: An NRG Oncology/Gynecologic Oncology Group study.

Moore KN, Tritchler D, Kaufman KM, Lankes H, Quinn MCJ; Ovarian Cancer Association Consortium, Van Le L, Berchuck A, Backes FJ, Tewari KS, Lee RB, Kesterson JP, Wenham RM, Armstrong DK, Krivak TC, Bookman MA, Birrer MJ.

Gynecol Oncol. 2017 Nov;147(2):396-401. doi: 10.1016/j.ygyno.2017.08.024. Epub 2017 Sep 19.

8.

Transancestral mapping and genetic load in systemic lupus erythematosus.

Langefeld CD, Ainsworth HC, Cunninghame Graham DS, Kelly JA, Comeau ME, Marion MC, Howard TD, Ramos PS, Croker JA, Morris DL, Sandling JK, Almlöf JC, Acevedo-Vásquez EM, Alarcón GS, Babini AM, Baca V, Bengtsson AA, Berbotto GA, Bijl M, Brown EE, Brunner HI, Cardiel MH, Catoggio L, Cervera R, Cucho-Venegas JM, Dahlqvist SR, D'Alfonso S, Da Silva BM, de la Rúa Figueroa I, Doria A, Edberg JC, Endreffy E, Esquivel-Valerio JA, Fortin PR, Freedman BI, Frostegård J, García MA, de la Torre IG, Gilkeson GS, Gladman DD, Gunnarsson I, Guthridge JM, Huggins JL, James JA, Kallenberg CGM, Kamen DL, Karp DR, Kaufman KM, Kottyan LC, Kovács L, Laustrup H, Lauwerys BR, Li QZ, Maradiaga-Ceceña MA, Martín J, McCune JM, McWilliams DR, Merrill JT, Miranda P, Moctezuma JF, Nath SK, Niewold TB, Orozco L, Ortego-Centeno N, Petri M, Pineau CA, Pons-Estel BA, Pope J, Raj P, Ramsey-Goldman R, Reveille JD, Russell LP, Sabio JM, Aguilar-Salinas CA, Scherbarth HR, Scorza R, Seldin MF, Sjöwall C, Svenungsson E, Thompson SD, Toloza SMA, Truedsson L, Tusié-Luna T, Vasconcelos C, Vilá LM, Wallace DJ, Weisman MH, Wither JE, Bhangale T, Oksenberg JR, Rioux JD, Gregersen PK, Syvänen AC, Rönnblom L, Criswell LA, Jacob CO, Sivils KL, Tsao BP, Schanberg LE, Behrens TW, Silverman ED, Alarcón-Riquelme ME, Kimberly RP, Harley JB, Wakeland EK, Graham RR, Gaffney PM, Vyse TJ.

Nat Commun. 2017 Jul 17;8:16021. doi: 10.1038/ncomms16021.

9.

Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons.

Li H, Reksten TR, Ice JA, Kelly JA, Adrianto I, Rasmussen A, Wang S, He B, Grundahl KM, Glenn SB, Miceli-Richard C, Bowman S, Lester S, Eriksson P, Eloranta ML, Brun JG, Gøransson LG, Harboe E, Guthridge JM, Kaufman KM, Kvarnström M, Cunninghame Graham DS, Patel K, Adler AJ, Farris AD, Brennan MT, Chodosh J, Gopalakrishnan R, Weisman MH, Venuturupalli S, Wallace DJ, Hefner KS, Houston GD, Huang AJW, Hughes PJ, Lewis DM, Radfar L, Vista ES, Edgar CE, Rohrer MD, Stone DU, Vyse TJ, Harley JB, Gaffney PM, James JA, Turner S, Alevizos I, Anaya JM, Rhodus NL, Segal BM, Montgomery CG, Scofield RH, Kovats S, Mariette X, Rönnblom L, Witte T, Rischmueller M, Wahren-Herlenius M, Omdal R, Jonsson R, Ng WF; for UK Primary Sjögren's Syndrome Registry, Nordmark G, Lessard CJ, Sivils KL.

PLoS Genet. 2017 Jun 22;13(6):e1006820. doi: 10.1371/journal.pgen.1006820. eCollection 2017 Jun.

10.

Profound loss of esophageal tissue differentiation in patients with eosinophilic esophagitis.

Rochman M, Travers J, Miracle CE, Bedard MC, Wen T, Azouz NP, Caldwell JM, Kc K, Sherrill JD, Davis BP, Rymer JK, Kaufman KM, Aronow BJ, Rothenberg ME.

J Allergy Clin Immunol. 2017 Sep;140(3):738-749.e3. doi: 10.1016/j.jaci.2016.11.042. Epub 2017 Jan 17.

11.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.

Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg AM, Wedderburn LR, Anton J, Haas JP, Rosen-Wolff A, Minden K, Tenbrock K, Demirkaya E, Cobb J, Baskin E, Signa S, Shuldiner E, 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, Inception Cohort of Newly Diagnosed Patients with Juvenile Idiopathic Arthritis (ICON-JIA) 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, Langefeld CD, Thompson S, Zeggini E, Kastner DL, Woo P, Thomson W.

Ann Rheum Dis. 2017 May;76(5):906-913. doi: 10.1136/annrheumdis-2016-210324. Epub 2016 Dec 7.

12.

High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry.

Sun C, Molineros JE, Looger LL, Zhou XJ, Kim K, Okada Y, Ma J, Qi YY, Kim-Howard X, Motghare P, Bhattarai K, Adler A, Bang SY, Lee HS, Kim TH, Kang YM, Suh CH, Chung WT, Park YB, Choe JY, Shim SC, Kochi Y, Suzuki A, Kubo M, Sumida T, Yamamoto K, Lee SS, Kim YJ, Han BG, Dozmorov M, Kaufman KM, Wren JD, Harley JB, Shen N, Chua KH, Zhang H, Bae SC, Nath SK.

Nat Genet. 2016 Mar;48(3):323-30. doi: 10.1038/ng.3496. Epub 2016 Jan 25.

13.

Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.

Deng Y, Zhao J, Sakurai D, Sestak AL, Osadchiy V, Langefeld CD, Kaufman KM, Kelly JA, James JA, Petri MA, Bae SC, Alarcón-Riquelme ME, Alarcón GS, Anaya JM, Criswell LA, Freedman BI, Kamen DL, Gilkeson GS, Jacob CO, Merrill JT, Gaffney PM, Sivils KM, Niewold TB, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Boackle SA, Vilá LM, Sohn II, Lee S, Chang DM, Song YW, Vyse TJ, Harley JB, Brown EE, Edberg JC, Kimberly RP, Cantor RM, Hahn BH, Grossman JM, Tsao BP.

Ann Rheum Dis. 2016 Nov;75(11):2007-2013. doi: 10.1136/annrheumdis-2015-208441. Epub 2016 Jan 18.

14.

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.

Arthritis Rheumatol. 2016 May;68(5):1290-1300. doi: 10.1002/art.39560.

15.

Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behçet's Disease.

Ognenovski M, Renauer P, Gensterblum E, Kötter I, Xenitidis T, Henes JC, Casali B, Salvarani C, Direskeneli H, Kaufman KM, Sawalha AH.

Arthritis Rheumatol. 2016 May;68(5):1272-80. doi: 10.1002/art.39545.

16.

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.

Arthritis Rheumatol. 2016 Apr;68(4):932-43. doi: 10.1002/art.39504.

17.

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.

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23.

18.

Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus.

Zhao J, Wu H, Langefeld CD, Kaufman KM, Kelly JA, Bae SC; Marta E. Alarcón-Riquelme for the BIOLUPUS and GENLES networks, Alarcón GS, Anaya JM, Criswell LA, Freedman BI, Kamen DL, Gilkeson GS, Jacob CO, James JA, Merrill JT, Gaffney PM, Sivils KM, Niewold TB, Petri MA, Song ST, Jeong HJ, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Boackle SA, Vilá LM, Chang DM, Song YW, Vyse TJ, Harley JB, Brown EE, Edberg JC, Kimberly RP, Hahn BH, Grossman JM, Tsao BP, La Cava A.

Clin Immunol. 2015 Dec;161(2):157-62. doi: 10.1016/j.clim.2015.09.007. Epub 2015 Sep 16.

19.

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.

Front Pediatr. 2015 Aug 3;3:67. doi: 10.3389/fped.2015.00067. eCollection 2015.

20.

Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.

Yucesoy B, Kaufman KM, Lummus ZL, Weirauch MT, Zhang G, Cartier A, Boulet LP, Sastre J, Quirce S, Tarlo SM, Cruz MJ, Munoz X, Harley JB, Bernstein DI.

Toxicol Sci. 2015 Jul;146(1):192-201. doi: 10.1093/toxsci/kfv084. Epub 2015 Apr 26.

21.

Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression.

Lu X, Zoller EE, Weirauch MT, Wu Z, Namjou B, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath SK, Stevens AM, Freedman BI, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Reveille JD, Anaya JM, James JA, Sivils KL, Criswell LA, Vilá LM, Alarcón-Riquelme ME, Petri M, Scofield RH, Kimberly RP, Ramsey-Goldman R, Joo YB, Choi J, Bae SC, Boackle SA, Graham DC, Vyse TJ, Guthridge JM, Gaffney PM, Langefeld CD, Kelly JA, Greis KD, Kaufman KM, Harley JB, Kottyan LC.

Am J Hum Genet. 2015 May 7;96(5):731-9. doi: 10.1016/j.ajhg.2015.03.002. Epub 2015 Apr 9.

22.

Focused transcription from the human CR2/CD21 core promoter is regulated by synergistic activity of TATA and Initiator elements in mature B cells.

Taylor RL, Cruickshank MN, Karimi M, Ng HL, Quail E, Kaufman KM, Harley JB, Abraham LJ, Tsao BP, Boackle SA, Ulgiati D.

Cell Mol Immunol. 2016 Jan;13(1):119-31. doi: 10.1038/cmi.2014.138. Epub 2015 Feb 2.

23.

Lupus risk variants in the PXK locus alter B-cell receptor internalization.

Vaughn SE, Foley C, Lu X, Patel ZH, Zoller EE, Magnusen AF, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath S, Stevens AM, Freedman BI, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Reveille JD, Anaya JM, James JA, Moser KL, Criswell LA, Vilá LM, Alarcón-Riquelme ME, Petri M, Scofield RH, Kimberly RP, Ramsey-Goldman R, Binjoo Y, Choi J, Bae SC, Boackle SA, Vyse TJ, Guthridge JM, Namjou B, Gaffney PM, Langefeld CD, Kaufman KM, Kelly JA, Harley IT, Harley JB, Kottyan LC.

Front Genet. 2015 Jan 8;5:450. doi: 10.3389/fgene.2014.00450. eCollection 2014.

24.

Novel associations between FAAH genetic variants and postoperative central opioid-related adverse effects.

Sadhasivam S, Zhang X, Chidambaran V, Mavi J, Pilipenko V, Mersha TB, Meller J, Kaufman KM, Martin LJ, McAuliffe J.

Pharmacogenomics J. 2015 Oct;15(5):436-42. doi: 10.1038/tpj.2014.79. Epub 2015 Jan 6.

25.

The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.

Kottyan LC, Zoller EE, Bene J, Lu X, Kelly JA, Rupert AM, Lessard CJ, Vaughn SE, Marion M, Weirauch MT, Namjou B, Adler A, Rasmussen A, Glenn S, Montgomery CG, Hirschfield GM, Xie G, Coltescu C, Amos C, Li H, Ice JA, Nath SK, Mariette X, Bowman S; UK Primary Sjögren's Syndrome Registry, Rischmueller M, Lester S, Brun JG, Gøransson LG, Harboe E, Omdal R, Cunninghame-Graham DS, Vyse T, Miceli-Richard C, Brennan MT, Lessard JA, Wahren-Herlenius M, Kvarnström M, Illei GG, Witte T, Jonsson R, Eriksson P, Nordmark G, Ng WF; UK Primary Sjögren's Syndrome Registry, Anaya JM, Rhodus NL, Segal BM, Merrill JT, James JA, Guthridge JM, Scofield RH, Alarcon-Riquelme M, Bae SC, Boackle SA, Criswell LA, Gilkeson G, Kamen DL, Jacob CO, Kimberly R, Brown E, Edberg J, Alarcón GS, Reveille JD, Vilá LM, Petri M, Ramsey-Goldman R, Freedman BI, Niewold T, Stevens AM, Tsao BP, Ying J, Mayes MD, Gorlova OY, Wakeland W, Radstake T, Martin E, Martin J, Siminovitch K, Moser Sivils KL, Gaffney PM, Langefeld CD, Harley JB, Kaufman KM.

Hum Mol Genet. 2015 Jan 15;24(2):582-96. doi: 10.1093/hmg/ddu455. Epub 2014 Sep 8.

26.

Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA.

Zhao J, Giles BM, Taylor RL, Yette GA, Lough KM, Ng HL, Abraham LJ, Wu H, Kelly JA, Glenn SB, Adler AJ, Williams AH, Comeau ME, Ziegler JT, Marion M, Alarcón-Riquelme ME; BIOLUPUS and GENLES Networks, Alarcón GS, Anaya JM, Bae SC, Kim D, Lee HS, Criswell LA, Freedman BI, Gilkeson GS, Guthridge JM, Jacob CO, James JA, Kamen DL, Merrill JT, Sivils KM, Niewold TB, Petri MA, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Vilá LM, Vyse TJ, Kaufman KM, Harley JB, Langefeld CD, Gaffney PM, Brown EE, Edberg JC, Kimberly RP, Ulgiati D, Tsao BP, Boackle SA.

Ann Rheum Dis. 2016 Jan;75(1):242-52. doi: 10.1136/annrheumdis-2014-205584. Epub 2014 Sep 1.

27.

Challenges and cautions with small and retrospective postoperative pain genome-wide association studies with TAOK3.

Sadhasivam S, Zhang X, Prows CA, Kaufman KM, Martin LJ.

Pain. 2014 Nov;155(11):2434-5. doi: 10.1016/j.pain.2014.08.008. Epub 2014 Aug 17. No abstract available.

PMID:
25139587
28.

Whole exome sequencing for familial bicuspid aortic valve identifies putative variants.

Martin LJ, Pilipenko V, Kaufman KM, Cripe L, Kottyan LC, Keddache M, Dexheimer P, Weirauch MT, Benson DW.

Circ Cardiovasc Genet. 2014 Oct;7(5):677-83. doi: 10.1161/CIRCGENETICS.114.000526. Epub 2014 Aug 1.

PMID:
25085919
29.

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.

Arthritis Rheumatol. 2014 Dec;66(12):3486-95. doi: 10.1002/art.38793.

30.

Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.

Guthridge JM, Lu R, Sun H, Sun C, Wiley GB, Dominguez N, Macwana SR, Lessard CJ, Kim-Howard X, Cobb BL, Kaufman KM, Kelly JA, Langefeld CD, Adler AJ, Harley IT, Merrill JT, Gilkeson GS, Kamen DL, Niewold TB, Brown EE, Edberg JC, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, Kimberly RP, Freedman BI, Stevens AM, Boackle SA, Criswell LA, Vyse TJ, Behrens TW, Jacob CO, Alarcón-Riquelme ME, Sivils KL, Choi J, Joo YB, Bang SY, Lee HS, Bae SC, Shen N, Qian X, Tsao BP, Scofield RH, Harley JB, Webb CF, Wakeland EK, James JA, Nath SK, Graham RR, Gaffney PM.

Am J Hum Genet. 2014 Apr 3;94(4):586-98. doi: 10.1016/j.ajhg.2014.03.008.

31.

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.

Front Genet. 2014 Feb 12;5:16. doi: 10.3389/fgene.2014.00016. eCollection 2014.

32.

Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.

Kim-Howard X, Sun C, Molineros JE, Maiti AK, Chandru H, Adler A, Wiley GB, Kaufman KM, Kottyan L, Guthridge JM, Rasmussen A, Kelly J, Sánchez E, Raj P, Li QZ, Bang SY, Lee HS, Kim TH, Kang YM, Suh CH, Chung WT, Park YB, Choe JY, Shim SC, Lee SS, Han BG, Olsen NJ, Karp DR, Moser K, Pons-Estel BA, Wakeland EK, James JA, Harley JB, Bae SC, Gaffney PM, Alarcón-Riquelme M; GENLES, Looger LL, Nath SK.

Hum Mol Genet. 2014 Mar 15;23(6):1656-68. doi: 10.1093/hmg/ddt532. Epub 2013 Oct 26.

33.

Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression.

Sakurai D, Zhao J, Deng Y, Kelly JA, Brown EE, Harley JB, Bae SC, Alarcόn-Riquelme ME; BIOLUPUS and GENLES networks, Edberg JC, Kimberly RP, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Alarcón GS, Kaufman KM, Vyse TJ, Jacob CO, Gaffney PM, Sivils KM, James JA, Kamen DL, Gilkeson GS, Niewold TB, Merrill JT, Scofield RH, Criswell LA, Stevens AM, Boackle SA, Kim JH, Choi J, Pons-Estel BA; Argentine Collaborative Group, Freedman BI, Anaya JM, Martin J, Yu CY, Chang DM, Song YW, Langefeld CD, Chen W, Grossman JM, Cantor RM, Hahn BH, Tsao BP.

PLoS Genet. 2013;9(10):e1003870. doi: 10.1371/journal.pgen.1003870. Epub 2013 Oct 10.

34.

Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.

Lessard CJ, Li H, Adrianto I, Ice JA, Rasmussen A, Grundahl KM, Kelly JA, Dozmorov MG, Miceli-Richard C, Bowman S, Lester S, Eriksson P, Eloranta ML, Brun JG, Gøransson LG, Harboe E, Guthridge JM, Kaufman KM, Kvarnström M, Jazebi H, Cunninghame Graham DS, Grandits ME, Nazmul-Hossain AN, Patel K, Adler AJ, Maier-Moore JS, Farris AD, Brennan MT, Lessard JA, Chodosh J, Gopalakrishnan R, Hefner KS, Houston GD, Huang AJ, Hughes PJ, Lewis DM, Radfar L, Rohrer MD, Stone DU, Wren JD, Vyse TJ, Gaffney PM, James JA, Omdal R, Wahren-Herlenius M, Illei GG, Witte T, Jonsson R, Rischmueller M, Rönnblom L, Nordmark G, Ng WF; UK Primary Sjögren's Syndrome Registry, Mariette X, Anaya JM, Rhodus NL, Segal BM, Scofield RH, Montgomery CG, Harley JB, Sivils KL.

Nat Genet. 2013 Nov;45(11):1284-92. doi: 10.1038/ng.2792. Epub 2013 Oct 6.

35.

ABIN1 dysfunction as a genetic basis for lupus nephritis.

Caster DJ, Korte EA, Nanda SK, McLeish KR, Oliver RK, G'sell RT, Sheehan RM, Freeman DW, Coventry SC, Kelly JA, Guthridge JM, James JA, Sivils KL, Alarcon-Riquelme ME, Scofield RH, Adrianto I, Gaffney PM, Stevens AM, Freedman BI, Langefeld CD, Tsao BP, Pons-Estel BA, Jacob CO, Kamen DL, Gilkeson GS, Brown EE, Alarcon GS, Edberg JC, Kimberly RP, Martin J, Merrill JT, Harley JB, Kaufman KM, Reveille JD, Anaya JM, Criswell LA, Vila LM, Petri M, Ramsey-Goldman R, Bae SC, Boackle SA, Vyse TJ, Niewold TB, Cohen P, Powell DW.

J Am Soc Nephrol. 2013 Nov;24(11):1743-54. doi: 10.1681/ASN.2013020148. Epub 2013 Aug 22.

36.

PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes.

Namjou B, Kim-Howard X, Sun C, Adler A, Chung SA, Kaufman KM, Kelly JA, Glenn SB, Guthridge JM, Scofield RH, Kimberly RP, Brown EE, Alarcón GS, Edberg JC, Kim JH, Choi J, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Boackle SA, Freedman BI, Tsao BP, Langefeld CD, Vyse TJ, Jacob CO, Pons-Estel B; Argentine Collaborative Group, Niewold TB, Moser Sivils KL, Merrill JT, Anaya JM, Gilkeson GS, Gaffney PM, Bae SC, Alarcón-Riquelme ME; BIOLUPUS and GENLES Networks, Harley JB, Criswell LA, James JA, Nath SK.

PLoS One. 2013 Aug 7;8(8):e69404. doi: 10.1371/journal.pone.0069404. eCollection 2013.

37.

Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4.

Manku H, Langefeld CD, Guerra SG, Malik TH, Alarcon-Riquelme M, Anaya JM, Bae SC, Boackle SA, Brown EE, Criswell LA, Freedman BI, Gaffney PM, Gregersen PA, Guthridge JM, Han SH, Harley JB, Jacob CO, James JA, Kamen DL, Kaufman KM, Kelly JA, Martin J, Merrill JT, Moser KL, Niewold TB, Park SY, Pons-Estel BA, Sawalha AH, Scofield RH, Shen N, Stevens AM, Sun C, Gilkeson GS, Edberg JC, Kimberly RP, Nath SK, Tsao BP, Vyse TJ.

PLoS Genet. 2013;9(7):e1003554. doi: 10.1371/journal.pgen.1003554. Epub 2013 Jul 18.

38.

Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry.

Ramos PS, Oates JC, Kamen DL, Williams AH, Gaffney PM, Kelly JA, Kaufman KM, Kimberly RP, Niewold TB, Jacob CO, Tsao BP, Alarcón GS, Brown EE, Edberg JC, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, James JA, Guthridge JM, Merrill JT, Boackle SA, Freedman BI, Scofield RH, Stevens AM, Vyse TJ, Criswell LA, Moser KL, Alarcón-Riquelme ME, Langefeld CD, Harley JB, Gilkeson GS.

J Rheumatol. 2013 Jun;40(6):842-9. doi: 10.3899/jrheum.120989. Epub 2013 May 1. Erratum in: J Rheumatol. 2013 Jul;40(7):1240.

39.

MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus.

Deng Y, Zhao J, Sakurai D, Kaufman KM, Edberg JC, Kimberly RP, Kamen DL, Gilkeson GS, Jacob CO, Scofield RH, Langefeld CD, Kelly JA, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Alarcón GS, Vyse TJ, Pons-Estel BA; Argentine Collaborative Group, Freedman BI, Gaffney PM, Sivils KM, James JA, Gregersen PK, Anaya JM, Niewold TB, Merrill JT, Criswell LA, Stevens AM, Boackle SA, Cantor RM, Chen W, Grossman JM, Hahn BH, Harley JB, Alarcόn-Riquelme ME; BIOLUPUS and GENLES networks, Brown EE, Tsao BP.

PLoS Genet. 2013;9(2):e1003336. doi: 10.1371/journal.pgen.1003336. Epub 2013 Feb 28.

40.

Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.

Molineros JE, Maiti AK, Sun C, Looger LL, Han S, Kim-Howard X, Glenn S, Adler A, Kelly JA, Niewold TB, Gilkeson GS, Brown EE, Alarcón GS, Edberg JC, Petri M, Ramsey-Goldman R, Reveille JD, Vilá LM, Freedman BI, Tsao BP, Criswell LA, Jacob CO, Moore JH, Vyse TJ, Langefeld CL, Guthridge JM, Gaffney PM, Moser KL, Scofield RH, Alarcón-Riquelme ME; BIOLUPUS Network, Williams SM, Merrill JT, James JA, Kaufman KM, Kimberly RP, Harley JB, Nath SK.

PLoS Genet. 2013;9(2):e1003222. doi: 10.1371/journal.pgen.1003222. Epub 2013 Feb 18.

41.

Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

Adrianto I, Lin CP, Hale JJ, Levin AM, Datta I, Parker R, Adler A, Kelly JA, Kaufman KM, Lessard CJ, Moser KL, Kimberly RP, Harley JB, Iannuzzi MC, Rybicki BA, Montgomery CG.

PLoS One. 2012;7(8):e43907. doi: 10.1371/journal.pone.0043907. Epub 2012 Aug 27. Erratum in: PLoS One. 2013;8(9). doi:10.1371/annotation/800aa394-fb39-471b-b5c5-b648079921a4.

42.

Mapping susceptibility gene in systemic lupus erythematosus.

Scofield RH, Kaufman KM.

Methods Mol Biol. 2012;900:11-24. doi: 10.1007/978-1-60761-720-4_2.

PMID:
22933063
43.

IRF5 gene polymorphisms in melanoma.

Uccellini L, De Giorgi V, Zhao Y, Tumaini B, Erdenebileg N, Dudley ME, Tomei S, Bedognetti D, Ascierto ML, Liu Q, Simon R, Kottyan L, Kaufman KM, Harley JB, Wang E, Rosenberg SA, Marincola FM.

J Transl Med. 2012 Aug 21;10:170. doi: 10.1186/1479-5876-10-170.

44.

Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups.

Kaufman KM, Zhao J, Kelly JA, Hughes T, Adler A, Sanchez E, Ojwang JO, Langefeld CD, Ziegler JT, Williams AH, Comeau ME, Marion MC, Glenn SB, Cantor RM, Grossman JM, Hahn BH, Song YW, Yu CY, James JA, Guthridge JM, Brown EE, Alarcón GS, Kimberly RP, Edberg JC, Ramsey-Goldman R, Petri MA, Reveille JD, Vilá LM, Anaya JM, Boackle SA, Stevens AM, Freedman BI, Criswell LA, Pons Estel BA; Argentine Collaborative Group, Lee JH, Lee JS, Chang DM, Scofield RH, Gilkeson GS, Merrill JT, Niewold TB, Vyse TJ, Bae SC, Alarcón-Riquelme ME; BIOLUPUS network, Jacob CO, Moser Sivils K, Gaffney PM, Harley JB, Sawalha AH, Tsao BP.

Ann Rheum Dis. 2013 Mar;72(3):437-44. doi: 10.1136/annrheumdis-2012-201851. Epub 2012 Aug 17.

45.

Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations.

Sánchez E, Rasmussen A, Riba L, Acevedo-Vasquez E, Kelly JA, Langefeld CD, Williams AH, Ziegler JT, Comeau ME, Marion MC, García-De La Torre I, Maradiaga-Ceceña MA, Cardiel MH, Esquivel-Valerio JA, Rodriguez-Amado J, Moctezuma JF, Miranda P, Perandones CE, Castel C, Laborde HA, Alba P, Musuruana JL, Goecke IA, Anaya JM, Kaufman KM, Adler A, Glenn SB, Brown EE, Alarcón GS, Kimberly RP, Edberg JC, Vilá LM, Criswell LA, Gilkeson GS, Niewold TB, Martín J, Vyse TJ, Boackle SA, Ramsey-Goldman R, Scofield RH, Petri M, Merrill JT, Reveille JD, Tsao BP, Orozco L, Baca V, Moser KL, Gaffney PM, James JA, Harley JB, Tusié-Luna T, Pons-Estel BA, Jacob CO, Alarcón-Riquelme ME.

Arthritis Rheum. 2012 Nov;64(11):3687-94. doi: 10.1002/art.34650.

46.

Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus.

Adrianto I, Wang S, Wiley GB, Lessard CJ, Kelly JA, Adler AJ, Glenn SB, Williams AH, Ziegler JT, Comeau ME, Marion MC, Wakeland BE, Liang C, Kaufman KM, Guthridge JM, Alarcón-Riquelme ME; BIOLUPUS and GENLES Networks, Alarcón GS, Anaya JM, Bae SC, Kim JH, Joo YB, Boackle SA, Brown EE, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, Criswell LA, Edberg JC, Freedman BI, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Martín J, Merrill JT, Niewold TB, Pons-Estel BA, Scofield RH, Stevens AM, Tsao BP, Vyse TJ, Langefeld CD, Harley JB, Wakeland EK, Moser KL, Montgomery CG, Gaffney PM.

Arthritis Rheum. 2012 Nov;64(11):3695-705. doi: 10.1002/art.34642.

47.

Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries.

Kim K, Brown EE, Choi CB, Alarcón-Riquelme ME; BIOLUPUS, Kelly JA, Glenn SB, Ojwang JO, Adler A, Lee HS, Boackle SA, Criswell LA, Alarcón GS, Edberg JC, Stevens AM, Jacob CO, Gilkeson GS, Kamen DL, Tsao BP, Anaya JM, Guthridge JM, Nath SK, Richardson B, Sawalha AH, Kang YM, Shim SC, Suh CH, Lee SK, Kim CS, Merrill JT, Petri M, Ramsey-Goldman R, Vilá LM, Niewold TB, Martin J, Pons-Estel BA; GENLES, Vyse TJ, Freedman BI, Moser KL, Gaffney PM, Williams A, Comeau M, Reveille JD, James JA, Scofield RH, Langefeld CD, Kaufman KM, Harley JB, Kang C, Kimberly RP, Bae SC.

Ann Rheum Dis. 2012 Nov;71(11):1809-14. doi: 10.1136/annrheumdis-2011-201110. Epub 2012 Apr 20.

48.

Genetic ancestry, serum interferon-α activity, and autoantibodies in systemic lupus erythematosus.

Ko K, Franek BS, Marion M, Kaufman KM, Langefeld CD, Harley JB, Niewold TB.

J Rheumatol. 2012 Jun;39(6):1238-40. doi: 10.3899/jrheum.111467. Epub 2012 Apr 15.

49.

A functional haplotype of UBE2L3 confers risk for systemic lupus erythematosus.

Wang S, Adrianto I, Wiley GB, Lessard CJ, Kelly JA, Adler AJ, Glenn SB, Williams AH, Ziegler JT, Comeau ME, Marion MC, Wakeland BE, Liang C, Kaufman KM, Guthridge JM, Alarcón-Riquelme ME; BIOLUPUS and GENLES Networks, Alarcón GS, Anaya JM, Bae SC, Kim JH, Joo YB, Boackle SA, Brown EE, Petri MA, Ramsey-Goldman R, Reveille JD, Vilá LM, Criswell LA, Edberg JC, Freedman BI, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Martin J, Merrill JT, Niewold TB, Pons-Estel BA, Scofield RH, Stevens AM, Tsao BP, Vyse TJ, Langefeld CD, Harley JB, Wakeland EK, Moser KL, Montgomery CG, Gaffney PM.

Genes Immun. 2012 Jul;13(5):380-7. doi: 10.1038/gene.2012.6. Epub 2012 Apr 5.

50.

Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.

Lessard CJ, Adrianto I, Ice JA, Wiley GB, Kelly JA, Glenn SB, Adler AJ, Li H, Rasmussen A, Williams AH, Ziegler J, Comeau ME, Marion M, Wakeland BE, Liang C, Ramos PS, Grundahl KM, Gallant CJ, Alarcón-Riquelme ME, Alarcón GS, Anaya JM, Bae SC, Boackle SA, Brown EE, Chang DM, Cho SK, Criswell LA, Edberg JC, Freedman BI, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Kim JH, Martin J, Merrill JT, Niewold TB, Park SY, Petri MA, Pons-Estel BA, Ramsey-Goldman R, Reveille JD, Scofield RH, Song YW, Stevens AM, Tsao BP, Vila LM, Vyse TJ, Yu CY, Guthridge JM, Kaufman KM, Harley JB, Wakeland EK, Langefeld CD, Gaffney PM, Montgomery CG, Moser KL; BIOLUPUS Network; GENLES Network.

Am J Hum Genet. 2012 Apr 6;90(4):648-60. doi: 10.1016/j.ajhg.2012.02.023. Epub 2012 Mar 29.

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