Publications

1. Chandrasekaran P, Han Y, Zerbe CS, Heller T, DeRavin SS, Kreuzberg SA, Marciano BE, Siu Y, Jones DR, Abraham RS, Stephens MC, Tsou AM, Snapper S, Conlan S, Subramanian P, Quinones M, Grou C, Calderon V, Deming C, Leiding JW, Arnold DE, Logan BR, Griffith LM, Petrovic A, Mousallem TI, Kapoor N, Heimall JR, Barnum JL, Kapadia M, Wright N, Rayes A, Chandra S, Broglie LA, Chellapandian D, Deal CL, Grunebaum E, Lim SS, Mallhi K, Marsh RA, Murguia-Favela L, Parikh S, Touzot F, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Kang EM, Malech HL, Segre JA, Bryant CE, Holland SM, Falcone EL. Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease. J Allergy Clin Immunol. 2023 Dec; 152 (6):1619-1633.e11 Epub 2023 Sept 01
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2. Pinto E Vairo F, Kemppainen JL, Vitek CRR, Whalen DA, Kolbert KJ, Sikkink KJ, Kroc SA, Kruisselbrink T, Shupe GF, Knudson AK, Burke EM, Loftus EC, Bandel LA, Prochnow CA, Mulvihill LA, Thomas B, Gable DM, Graddy CB, Garzon GGM, Ekpoh IU, Porquera EMC, Fervenza FC, Hogan MC, El Ters M, Warrington KJ, Davis JM 3rd, Koster MJ, Orandi AB, Basiaga ML, Vella A, Kumar S, Creo AL, Lteif AN, Pittock ST, Tebben PJ, Abate EG, Joshi AY, Ristagno EH, Patnaik MS, Schimmenti LA, Dhamija R, Sabrowsky SM, Wierenga KJ, Keddis MT, Samadder NJJ, Presutti RJ, Robinson SI, Stephens MC, Roberts LR, Faubion WA Jr, Driscoll SW, Wong-Kisiel LC, Selcen D, Flanagan EP, Ramanan VK, Jackson LM, Mauermann ML, Ortega VE, Anderson SA, Aoudia SL, Klee EW, McAllister TM, Lazaridis KN. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2023 Jun 23; 21 (1):410 Epub 2023 June 23
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3. Reinhart JP, Aird JL, Stephens MC, Asch S, Orandi AB, Tollefson MM. Tumor necrosis factor-alpha inhibitor-induced morphea and psoriasiform dermatitis in a pediatric patient with Crohn's disease. Pediatr Dermatol. 2023 May-Jun; 40 (3):519-522 Epub 2022 Nov 16
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4. Kerur B, Benchimol EI, Fiedler K, Stahl M, Hyams J, Stephens M, Lu Y, Pfefferkorn M, Alkhouri R, Strople J, Kelsen J, Siebold L, Goyal A, Rosh JR, LeLeiko N, Van Limbergen J, Guerrerio AL, Maltz R, Karam L, Crowley E, Griffiths A, Heyman MB, Deneau M, Benkov K, Noe J, Mouton D, Pappa H, Galanko JA, Snapper S, Muise AM, Kappelman MD. Natural History of Very Early Onset Inflammatory Bowel Disease in North America: A Retrospective Cohort Study. Inflamm Bowel Dis. 2021 Feb 16; 27 (3):295-302
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5. Macke EL, Pinto E Vairo F, Manian DV, Smith AR, Kemppainen JL, Klee EW, Stephens MC, Joshi AY. Successful Treatment of Skewed Lyonization Associated with X-Linked CGD in a Female Presenting with Recalcitrant Crohn's Disease. J Clin Immunol 2020 Oct; 40 (7):1056-1061 Epub 2020 July 27
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6. Haberman Y, Minar P, Karns R, Dexheimer PJ, Ghandikota S, Tegge S, Shapiro D, Shuler B, Venkateswaran S, Braun T, Ta A, Walters TD, Baldassano RN, Noe JD, Rosh J, Markowitz J, Dotson JL, Mack DR, Kellermayer R, Griffiths AM, Heyman MB, Baker SS, Moulton D, Patel AS, Gulati AS, Steiner SJ, LeLeiko N, Otley A, Oliva-Hemker M, Ziring D, Gokhale R, Kim S, Guthery SL, Cohen SA, Snapper S, Aronow BJ, Stephens M, Gibson G, Dillman JR, Dubinsky M, Hyams JS, Kugathasan S, Jegga AG, Denson LA. Mucosal Inflammatory and Wound Healing Gene Programs Reveal Targets for Stricturing Behavior in Pediatric Crohn's Disease. J Crohns Colitis. 2020 Aug 8; 15 (2):273-86 Epub 2020 Aug 08
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7. Manini ML, Barazi A, Khemani D, Abd-Rabu R, Absah I, Fischer PR, Mara K, Stephens M, Camilleri M. Gastrointestinal motility evaluation in children with orthostatic intolerance: Mayo Clinic experience. Neurogastroenterol Motil. 2020 Aug; 32 (8):e13863 Epub 2020 June 01
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8. Alexander E, Hommeida S, Stephens MC, Manini ML, Absah I. The Role of Oral Administration of Immunoglobulin in Managing Diarrheal Illness in Immunocompromised Children. Paediatr Drugs. 2020 Jun; 22 (3):331-334
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9. Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet. 2020 Apr; 63 (4):103817 Epub 2019 Nov 25
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10. Park SH, Al-Bawardy B, Aniwan S, Kane SV, Coelho-Prabhu N, Papadakis KA, Kisiel JB, Bruining DH, Faubion WA, Raffals LE, Pardi DS, Tremaine WJ, Stephens MC, Tung J, Khanna S, Willrich, Loftus EV. Distinct cutoff values of adalimumab trough levels are associated with different therapeutic outcomes in patients with inflammatory bowel disease. Crohn's & Colitis 360. 2019; 1(3):otz047.
    
11. Somineni HK, Venkateswaran S, Kilaru V, Marigorta UM, Mo A, Okou DT, Kellermayer R, Mondal K, Cobb D, Walters TD, Griffiths A, Noe JD, Crandall WV, Rosh JR, Mack DR, Heyman MB, Baker SS, Stephens MC, Baldassano RN, Markowitz JF, Dubinsky MC, Cho J, Hyams JS, Denson LA, Gibson G, Cutler DJ, Conneely KN, Smith AK, Kugathasan S. Blood-Derived DNA Methylation Signatures of Crohn's Disease and Severity of Intestinal Inflammation. Gastroenterology. 2019 Jun; 156 (8):2254-2265.e3 Epub 2019 Feb 16
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12. Lindoso L, Mondal K, Venkateswaran S, Somineni HK, Ballengee C, Walters TD, Griffiths A, Noe JD, Crandall W, Snapper S, Rabizadeh S, Rosh JR, LeLeiko N, Guthery S, Mack D, Kellermayer R, Gulati AS, Pfefferkorn MD, Moulton DE, Keljo D, Cohen S, Oliva-Hemker M, Heyman MB, Otley A, Baker SS, Evans JS, Kirschner BS, Patel AS, Ziring D, Stephens MC, Baldassano R, Dubinsky MC, Markowitz J, Denson LA, Hyams J, Kugathasan S, Ananthakrishnan AN. The Effect of Early-Life Environmental Exposures on Disease Phenotype and Clinical Course of Crohn's Disease in Children. Am J Gastroenterol. 2018 Oct; 113 (10):1524-1529 Epub 2018 Sept 28
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13. Kelly D, Kotliar M, Woo V, Jagannathan S, Whitt J, Moncivaiz J, Aronow BJ, Dubinsky MC, Hyams JS, Markowitz JF, Baldassano RN, Stephens MC, Walters TD, Kugathasan S, Haberman Y, Sundaram N, Rosen MJ, Helmrath M, Karns R, Barski A, Denson LA, Alenghat T. Microbiota-sensitive epigenetic signature predicts inflammation in Crohn's disease. JCI Insight. 2018 Sep 20; 3 (18) Epub 2018 Sept 20
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14. Gutierrez Sanchez LH, Alsawas M, Stephens M, Murad MH, Absah I. Upper GI involvement in children with familial adenomatous polyposis syndrome: single-center experience and meta-analysis of the literature. Gastrointest Endosc. 2018 Mar; 87 (3):648-656.e3 Epub 2017 Nov 06
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15. Marigorta UM, Denson LA, Hyams JS, Mondal K, Prince J, Walters TD, Griffiths A, Noe JD, Crandall WV, Rosh JR, Mack DR, Kellermayer R, Heyman MB, Baker SS, Stephens MC, Baldassano RN, Markowitz JF, Kim MO, Dubinsky MC, Cho J, Aronow BJ, Kugathasan S, Gibson G. Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease. Nat Genet. 2017 Oct; 49 (10):1517-1521 Epub 2017 Aug 14
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16. Stephens MC, Boardman LA, Lazaridis KN. Individualized Medicine in Gastroenterology and Hepatology. Mayo Clin Proc. 2017 May; 92 (5):810-825
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17. Kugathasan S, Denson LA, Walters TD, Kim MO, Marigorta UM, Schirmer M, Mondal K, Liu C, Griffiths A, Noe JD, Crandall WV, Snapper S, Rabizadeh S, Rosh JR, Shapiro JM, Guthery S, Mack DR, Kellermayer R, Kappelman MD, Steiner S, Moulton DE, Keljo D, Cohen S, Oliva-Hemker M, Heyman MB, Otley AR, Baker SS, Evans JS, Kirschner BS, Patel AS, Ziring D, Trapnell BC, Sylvester FA, Stephens MC, Baldassano RN, Markowitz JF, Cho J, Xavier RJ, Huttenhower C, Aronow BJ, Gibson G, Hyams JS, Dubinsky MC. Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study. Lancet. 2017 Apr 29; 389 (10080):1710-1718 Epub 2017 Mar 02
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18. Gurram B, Salzman NH, Kaldunski ML, Jia S, Li BU, Stephens M, Sood MR, Hessner MJ. Plasma-induced signatures reveal an extracellular milieu possessing an immunoregulatory bias in treatment-naive paediatric inflammatory bowel disease. Clin Exp Immunol. 2016 Apr; 184 (1):36-49 Epub 2016 Jan 29
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19. Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G, Individualized Medicine Clinic Members . Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. Mayo Clin Proc. 2016 Mar; 91: (3)297-307.
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20. Greenley RN, Gumidyala AP, Nguyen E, Plevinsky JM, Poulopoulos N, Thomason MM, Walter JG, Wojtowicz AA, Blank E, Gokhale R, Kirschner BS, Miranda A, Noe JD, Stephens MC, Werlin S, Kahn SA. Can You Teach a Teen New Tricks? Problem Solving Skills Training Improves Oral Medication Adherence in Pediatric Patients with Inflammatory Bowel Disease Participating in a Randomized Trial. Inflamm Bowel Dis. 2015 Nov; 21 (11):2649-57
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21. Polites SF, Potter DD, Moir CR, Zarroug AE, Stephens MC, Tung J, Pavey ES, Harmsen WS, Pemberton JH. Long-term outcomes of ileal pouch-anal anastomosis for pediatric chronic ulcerative colitis. J Pediatr Surg. 2015 Oct; 50 (10):1625-9 Epub 2015 Mar 26
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22. Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015 Jul 24; 349 (6246):436-40
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23. Ning K, Gettler K, Zhang W, Ng SM, Bowen BM, Hyams J, Stephens MC, Kugathasan S, Denson LA, Schadt EE, Hoffman GE, Cho JH. Improved integrative framework combining association data with gene expression features to prioritize Crohn's disease genes. Hum Mol Genet. 2015 Jul 15; 24 (14):4147-57 Epub 2015 May 01
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24. Cutler DJ, Zwick ME, Okou DT, Prahalad S, Walters T, Guthery SL, Dubinsky M, Baldassano R, Crandall WV, Rosh J, Markowitz J, Stephens M, Kellermayer R, Pfefferkorn M, Heyman MB, LeLeiko N, Mack D, Moulton D, Kappelman MD, Kumar A, Prince J, Bose P, Mondal K, Ramachandran D, Bohnsack JF, Griffiths AM, Haberman Y, Essers J, Thompson SD, Aronow B, Keljo DJ, Hyams JS, Denson LA, Kugathasan S, PRO-KIIDS Research Group. Dissecting Allele Architecture of Early Onset IBD Using High-Density Genotyping. PLoS One. 2015; 10 (6):e0128074 Epub 2015 June 22
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25. Minar P, Haberman Y, Jurickova I, Wen T, Rothenberg ME, Kim MO, Saeed SA, Baldassano RN, Stephens M, Markowitz J, Rosh J, Crandall WV, Heyman MB, Mack DR, Griffiths AM, Baker SS, Hyams JS, Kugathasan S, Denson LA. Utility of neutrophil Fcgamma receptor I (CD64) index as a biomarker for mucosal inflammation in pediatric Crohn's disease. Inflamm Bowel Dis. 2014 Jun; 20 (6):1037-48
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26. Gevers D, Kugathasan S, Denson LA, Vazquez-Baeza Y, Van Treuren W, Ren B, Schwager E, Knights D, Song SJ, Yassour M, Morgan XC, Kostic AD, Luo C, Gonzalez A, McDonald D, Haberman Y, Walters T, Baker S, Rosh J, Stephens M, Heyman M, Markowitz J, Baldassano R, Griffiths A, Sylvester F, Mack D, Kim S, Crandall W, Hyams J, Huttenhower C, Knight R, Xavier RJ. The treatment-naive microbiome in new-onset Crohn's disease. Cell Host Microbe. 2014 Mar 12; 15 (3):382-392
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27. Walters TD, Kim MO, Denson LA, Griffiths AM, Dubinsky M, Markowitz J, Baldassano R, Crandall W, Rosh J, Pfefferkorn M, Otley A, Heyman MB, LeLeiko N, Baker S, Guthery SL, Evans J, Ziring D, Kellermayer R, Stephens M, Mack D, Oliva–Hemker M, Patel AS, Kirschner B, Moulton D, Cohen S, Kim S, Liu C, Essers J, Kugathasan S, Hyams JS, PRO-KIIDS Research Group. Increased Effectiveness of Early Therapy With Anti-Tumor Necrosis Factor-a vs an Immunomodulator in Children With Crohn's Disease. Gastroenterology. 2014; 146:383-391.
    
28. Absah I, Stephens M. Adjunctive treatment to antitumor necrosis factor in pediatric patients with refractory Crohn's disease. Curr Opin Pediatr. 2013 Oct; 25: (5)624-8.
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29. Dubinsky MC, Kugathasan S, Kwon S, Haritunians T, Wrobel I, Wahbeh G, Quiros A, Bahar R, Silber G, Farrior S, Stephens M, Teleten N, Panikkath D, Ippoliti A, Vasiliauskas E, Fleshner P, Williams C, Landers C, Rotter JI, Targan SR, Taylor KD, McGovern DP. Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. Inflamm Bowel Dis. 2013 Jul; 19(8):1662-70.
    
30. Adamiak T, Walkiewicz-Jedrzejczak D, Fish D, Brown C, Tung J, Khan K, Faubion W Jr, Park R, Heikenen J, Yaffee M, Rivera-Bennett MT, Wiedkamp M, Stephens M, Noel R, Nugent M, Nebel J, Simpson P, Kappelman MD, Kugathasan S. Incidence, clinical characteristics, and natural history of pediatric IBD in Wisconsin: a population-based epidemiological study. Inflamm Bowel Dis. 2013 May; 19(6):1218-23.
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31. Otley A, LeLeiko N, Langton C, Lerer T, Mack D, Evans J, Pfefferkorn M, Carvalho R, Rosh J, Griffiths A, Oliva-Hemker M, Kay M, Bousvaros A, Stephens M, Samson C, Grossman A, Keljo D, Markowitz J, Hyams J, Pediatric IBD Collaborative Research Group. Budesonide use in pediatric Crohn disease. J Pediatr Gastroenterol Nutr. 2012 Aug; 55(2):200-4.
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32. Greenley RN, Kunz JH, Biank V, Martinez A, Miranda A, Noe J, Telega G, Tipnis NA, Werlin S, Stephens MC. Identifying youth nonadherence in clinical settings: data-based recommendations for children and adolescents with inflammatory bowel disease. Inflamm Bowel Dis. 2012 Jul; 18(7):1254-9. Epub 2011 Aug 29.
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33. Biank VF, Sheth MK, Talano J, Margolis D, Simpson P, Kugathasan S, Stephens M. Association of Crohn's disease, thiopurines, and primary epstein-barr virus infection with hemophagocytic lymphohistiocytosis. J Pediatr. 2011 Nov; 159(5):808-12. Epub 2011 Jun 30.
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34. Hyams JS, Lerer T, Mack D, Bousvaros A, Griffiths A, Rosh J, Otley A, Evans J, Stephens M, Kay M, Keljo D, Pfefferkorn M, Saeed S, Crandall W, Michail S, Kappelman MD, Grossman A, Samson C, Sudel B, Oliva-Hemker M, Leleiko N, Markowitz J, Pediatric Infl ammatory Bowel Disease Collaborative Research Group Registry. Outcome following thiopurine use in children with ulcerative colitis: a prospective multicenter registry study. Am J Gastroenterol. 2011 May; 106(5):981-7. Epub 2011 Jan 11.
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35. Lee JJ, Essers JB, Kugathasan S, Escher JC, Lettre G, Butler JL, Stephens MC, Ramoni MF, Grand RJ, Hirschhorn J. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. Ann Hum Genet. 2010 Nov; 74(6):489-97. Epub 2010 Sep 15.
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36. Adamiak T, Stephens M, Werlin SL. Angioedema occurring in pediatric patients with Crohn disease treated with adalimumab. J Pediatr Gastroenterol Nutr. 2010 Aug; 51(2):223-5.
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37. Hyams JS, Lerer T, Griffiths A, Pfefferkorn M, Stephens M, Evans J, Otley A, Carvalho R, Mack D, Bousvaros A, Rosh J, Grossman A, Tomer G, Kay M, Crandall W, Oliva-Hemker M, Keljo D, LeLeiko N, Markowitz J, Pediatric Inflammatory Bowel Disease Collaborative Research Group. Outcome following infliximab therapy in children with ulcerative colitis. Am J Gastroenterol. 2010 Jun; 105(6):1430-6. Epub 2010 Jan 26.
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38. Greenley RN, Doughty A, Stephens M, Kugathasan S. Brief report: development of the inflammatory bowel disease family responsibility questionnaire. J Pediatr Psychol. 2010 Mar; 35(2):183-7. Epub 2009 Jun 29.
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39. Greenley RN, Stephens M, Doughty A, Raboin T, Kugathasan S. Barriers to adherence among adolescents with inflammatory bowel disease. Inflamm Bowel Dis. 2010 Jan; 16(1):36-41.
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40. Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, Kugathasan S, Bradfield JP, Walters TD, Sleiman P, Kim CE, Muise A, Wang K, Glessner JT, Saeed S, Zhang H, Frackelton EC, Hou C, Flory JH, Otieno G, Chiavacci RM, Grundmeier R, Castro M, Latiano A, Dallapiccola B, Stempak J, Abrams DJ, Taylor K, McGovern D, Silber G, Wrobel I, Quiros A, Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmuda MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E, Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwillam R, Tremelling M, Delukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG, Parkes M, Georges M, Daly MJ, Heyman MB, Ferry GD, Kirschner B, Lee J, Essers J, Grand R, Stephens M, Levine A, Piccoli D, Van Limbergen J, Cucchiara S, Monos DS, Guthery SL, Denson L, Wilson DC, Grant SF, Daly M, Silverberg MS, Satsangi J, Hakonarson H, Western Regional Alliance for Pediatric IBD//International IBD Genetics Consortium//NIDDK IBD Genetics Consortium//Belgian-French IBD Consortium//Wellcome Trust Case Control Consortium. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet. 2009 Dec; 41 (12):1335-40 Epub 2009 Nov 15
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41. Hines RN, Koukouritaki SB, Poch MT, Stephens MC. Regulatory polymorphisms and their contribution to interindividual differences in the expression of enzymes influencing drug and toxicant disposition. Drug Metab Rev. 2008; 40(2):263-301.
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42. Stephens MC, Baldassano RN, York A, Widemann B, Pitney AC, Jayaprakash N, Adamson PC. The bioavailability of oral methotrexate in children with inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2005 Apr; 40(4):445-9.
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43. Kugathasan S, Collins N, Maresso K, Hoffmann RG, Stephens M, Werlin SL, Rudolph C, Broeckel U. CARD15 gene mutations and risk for early surgery in pediatric-onset Crohn's disease. Clin Gastroenterol Hepatol. 2004 Nov; 2(11):1003-9.
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44. Stephens MC, Shepanski MA, Mamula P, Markowitz JE, Brown KA, Baldassano RN. Safety and steroid-sparing experience using infliximab for Crohn's disease at a pediatric inflammatory bowel disease center. Am J Gastroenterol. 2003 Jan; 98(1):104-11.
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45. Stephens M, Batres LA, Ng D, Baldassano R. Growth failure in the child with inflammatory bowel disease. Semin Gastrointest Dis. 2001 Oct; 12(4):253-62.
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