Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Scott Brian Snapper, M.D.,Ph.D.

Title
Institution
Department
Address
Fax
Other Positions
Title
Institution
Department

Mentoring
completed student projects
Characterizing Colitis in WASP-deficient Mice as a Murine Model of Inflammatory Bowel Disease
Full Time/Year Long, 09/01/99 - 08/01/00
Characterizing Colitis in WASP-deficient Mice as a Murine Model of Inflammatory Bowel Disease
Part Time/Continuation, 09/01/00 - 01/31/01

Research
research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
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  1. RC2DK122532 (SNAPPER, SCOTT B) Sep 15, 2020 - Jun 30, 2025
    NIH
    Identifying Immune and Epithelial Network Signatures in Very Early Onset Inflammatory Bowel Disease
    Role: Principal Investigator
  2. R01DK126448 (SNAPPER, SCOTT B) Sep 1, 2020 - Jun 30, 2025
    NIH
    Low Dose Interleukin-2 for Regulatory T cell Modulation and the Treatment of Crohn’s Disease
    Role: Principal Investigator
  3. R21DK118951 (SNAPPER, SCOTT B) Aug 21, 2018 - Jul 31, 2021
    NIH
    Low dose interleukin 2 for the expansion of regulatory T cells and the treatment of moderate to severe ulcerative colitis
    Role: Principal Investigator
  4. R56AI125766 (SNAPPER, SCOTT B) Aug 8, 2017 - Jul 31, 2019
    NIH
    Employing novel humanized murine strains to develop hematopoietic stem cell gene therapeutic approaches for very early-onset inflammatory bowel disease due to IL10-receptor deficiency.
    Role: Principal Investigator
  5. R01DK115217 (SNAPPER, SCOTT B) Aug 1, 2017 - Jul 31, 2021
    NIH
    Type III interferon Control of Mucosal Immunity
    Role: Principal Investigator

Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Li Y, Yu Z, Schenk M, Lagovsky I, Illig D, Walz C, Rohlfs M, Conca R, Muise AM, Snapper SB, Uhlig HH, Garty BZ, Klein C, Kotlarz D. Human MD2 deficiency-an inborn error of immunity with pleiotropic features. J Allergy Clin Immunol. 2022 Nov 23. PMID: 36462957.
    Citations:    Fields:    
  2. Sultan M, Adawi M, Kol N, McCourt B, Adawi I, Baram L, Tal N, Werner L, Lev A, Snapper SB, Barel O, Konnikova L, Somech R, Shouval DS. RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features. Front Immunol. 2022; 13:1041315. PMID: 36466854; PMCID: PMC9716469.
    Citations:    Fields:    Translation:HumansCells
  3. Aschenbrenner D, Ye Z, Zhou Y, Hu W, Brooks I, Williams I, Capitani M, Gartner L, Kotlarz D, Snapper SB, Klein C, Muise AM, Marsden BD, Huang Y, Uhlig HH. Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications. J Clin Immunol. 2022 Nov 12. PMID: 36370291.
    Citations:    Fields:    
  4. Sanmarco LM, Chao CC, Wang YC, Kenison JE, Li Z, Rone JM, Rejano-Gordillo CM, Polonio CM, Gutierrez-Vazquez C, Piester G, Plasencia A, Li L, Giovannoni F, Lee HG, Faust Akl C, Wheeler MA, Mascanfroni I, Jaronen M, Alsuwailm M, Hewson P, Yeste A, Andersen BM, Franks DG, Huang CJ, Ekwudo M, Tjon EC, Rothhammer V, Takenaka M, de Lima KA, Linnerbauer M, Guo L, Covacu R, Queva H, Fonseca-Castro PH, Bladi MA, Cox LM, Hodgetts KJ, Hahn ME, Mildner A, Korzenik J, Hauser R, Snapper SB, Quintana FJ. Identification of environmental factors that promote intestinal inflammation. Nature. 2022 11; 611(7937):801-809. PMID: 36266581.
    Citations: 2     Fields:    Translation:AnimalsCells
  5. Collen LV, Kim DY, Field M, Okoroafor I, Saccocia G, Whitcomb SD, Green J, Dong MD, Barends J, Carey B, Weatherly ME, Rockowitz S, Sliz P, Liu E, Eran A, Grushkin-Lerner L, Bousvaros A, Muise AM, Klein C, Mitsialis V, Ouahed J, Snapper SB. Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease. J Crohns Colitis. 2022 Sep 08; 16(9):1380-1396. PMID: 35366317; PMCID: PMC9455789.
    Citations:    Fields:    
  6. Chen B, Collen LV, Mowat C, Isaacs KL, Singh S, Kane SV, Farraye FA, Snapper S, Jneid H, Lavie CJ, Krittanawong C. Inflammatory Bowel Disease and Cardiovascular Diseases. Am J Med. 2022 12; 135(12):1453-1460. PMID: 36058305.
    Citations:    Fields:    Translation:Humans
  7. Collen LV, Salgado CA, Bao B, Janssen E, Weir D, Goldsmith J, Leichtner A, Sabery Khavari N, Gernez Y, Snapper SB. Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report. Front Immunol. 2022; 13:894648. PMID: 35935971; PMCID: PMC9352891.
    Citations:    Fields:    Translation:Humans
  8. Serra EG, Schwerd T, Moutsianas L, Cavounidis A, Fachal L, Pandey S, Kammermeier J, Croft NM, Posovszky C, Rodrigues A, Russell RK, Barakat F, Auth MKH, Heuschkel R, Zilbauer M, Fyderek K, Braegger C, Travis SP, Satsangi J, Parkes M, Thapar N, Ferry H, Matte JC, Gilmour KC, Wedrychowicz A, Sullivan P, Moore C, Sambrook J, Ouwehand W, Roberts D, Danesh J, Baeumler TA, Fulga TA, Carrami EM, Ahmed A, Wilson R, Barrett JC, Elkadri A, Griffiths AM, Snapper SB, Shah N, Muise AM, Wilson DC, Uhlig HH, Anderson CA. Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nat Commun. 2022 Jun 22; 13(1):3576. PMID: 35732629; PMCID: PMC9217933.
    Citations:    Fields:    
  9. Gordon RJ, Pappa HM, Vajapeyam S, Mulkern R, Ecklund K, Snapper SB, Gordon CM. Bone marrow adiposity in pediatric Crohn's disease. Bone. 2022 09; 162:116453. PMID: 35667602.
    Citations:    Fields:    Translation:Humans
  10. Berger K, Arafat D, Chandrakasan S, Snapper SB, Gibson G. Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation. J Pers Med. 2022 Jun 01; 12(6). PMID: 35743704; PMCID: PMC9224647.
    Citations:    
  11. Kerur B, 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 RM, Karam L, Crowley E, Griffiths AM, Heyman MB, Deneau M, Benkov K, Noe J, Moulton D, Pappa H, Galanko J, Snapper S, Muise AM, Kappelman MD, Benchimol EI. Utilization of Antitumor Necrosis Factor Biologics in Very Early Onset Inflammatory Bowel Disease: A Multicenter Retrospective Cohort Study From North America. J Pediatr Gastroenterol Nutr. 2022 07 01; 75(1):64-69. PMID: 35622080.
    Citations:    Fields:    Translation:Humans
  12. Yao Y, Kim G, Shafer S, Chen Z, Kubo S, Ji Y, Luo J, Yang W, Perner SP, Kanellopoulou C, Park AY, Jiang P, Li J, Baris S, Aydiner EK, Ertem D, Mulder DJ, Warner N, Griffiths AM, Topf-Olivestone C, Kori M, Werner L, Ouahed J, Field M, Liu C, Schwarz B, Bosio CM, Ganesan S, Song J, Urlaub H, Oellerich T, Malaker SA, Zheng L, Bertozzi CR, Zhang Y, Matthews H, Montgomery W, Shih HY, Jiang J, Jones M, Baras A, Shuldiner A, Gonzaga-Jauregui C, Snapper SB, Muise AM, Shouval DS, Ozen A, Pan KT, Wu C, Lenardo MJ. Mucus sialylation determines intestinal host-commensal homeostasis. Cell. 2022 03 31; 185(7):1172-1188.e28. PMID: 35303419; PMCID: PMC9088855.
    Citations: 2     Fields:    Translation:HumansAnimals
  13. Ghalandary M, Li Y, Fröhlich T, Magg T, Liu Y, Rohlfs M, Hollizeck S, Conca R, Schwerd T, Uhlig HH, Bufler P, Koletzko S, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D. Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses. Sci Rep. 2022 03 10; 12(1):3906. PMID: 35273242; PMCID: PMC8913691.
    Citations:    Fields:    Translation:Humans
  14. Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet. 2022 Feb; 54(2):213. PMID: 34987219.
    Citations:    Fields:    
  15. Raffals LE, Saha S, Bewtra M, Norris C, Dobes A, Heller C, O'Charoen S, Fehlmann T, Sweeney S, Weaver A, Bishu S, Cross R, Dassopoulos T, Fischer M, Yarur A, Hudesman D, Parakkal D, Duerr R, Caldera F, Korzenik J, Pekow J, Wells K, Bohm M, Perera L, Kaur M, Ciorba M, Snapper S, Scoville EA, Dalal S, Wong U, Lewis JD. The Development and Initial Findings of A Study of a Prospective Adult Research Cohort with Inflammatory Bowel Disease (SPARC IBD). Inflamm Bowel Dis. 2022 02 01; 28(2):192-199. PMID: 34436563; PMCID: PMC9013198.
    Citations:    Fields:    Translation:Humans
  16. Gordon RJ, Wells R, Johansen C, Liu S, Dahlberg SE, Snapper SB, Rufo PA. Efficacy and Safety of High-dose Cholecalciferol in Patients With Inflammatory Bowel Disease Receiving Infliximab. J Pediatr Gastroenterol Nutr. 2022 04 01; 74(4):476-483. PMID: 35045559.
    Citations:    Fields:    Translation:Humans
  17. El Sayed S, Patik I, Redhu NS, Glickman JN, Karagiannis K, El Naenaeey ESY, Elmowalid GA, Abd El Wahab AM, Snapper SB, Horwitz BH. CCR2 promotes monocyte recruitment and intestinal inflammation in mice lacking the interleukin-10 receptor. Sci Rep. 2022 01 10; 12(1):452. PMID: 35013585; PMCID: PMC8748948.
    Citations:    Fields:    Translation:HumansAnimalsCells
  18. Dannheim K, Ouahed J, Field M, Snapper S, Raphael BP, Glover SC, Bishop PR, Bhesania N, Kamin D, Thiagarajah J, Goldsmith JD. Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy. Am J Surg Pathol. 2022 06 01; 46(6):846-853. PMID: 34985046; PMCID: PMC9106838.
    Citations:    Fields:    Translation:Humans
  19. Keszei M, Record J, Kritikou JS, Wurzer H, Geyer C, Thiemann M, Drescher P, Brauner H, Köcher L, James J, He M, Baptista MA, Dahlberg CI, Biswas A, Lain S, Lane DP, Song W, Pütsep K, Vandenberghe P, Snapper SB, Westerberg LS. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2021 12 01; 131(23). PMID: 34850746.
    Citations:    Fields:    
  20. Bolton C, Smillie CS, Pandey S, Elmentaite R, Wei G, Argmann C, Aschenbrenner D, James KR, McGovern DPB, Macchi M, Cho J, Shouval DS, Kammermeier J, Koletzko S, Bagalopal K, Capitani M, Cavounidis A, Pires E, Weidinger C, McCullagh J, Arkwright PD, Haller W, Siegmund B, Peters L, Jostins L, Travis SPL, Anderson CA, Snapper S, Klein C, Schadt E, Zilbauer M, Xavier R, Teichmann S, Muise AM, Regev A, Uhlig HH. An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease. Gastroenterology. 2022 03; 162(3):859-876. PMID: 34780721.
    Citations: 2     Fields:    Translation:HumansCells
  21. Ouahed J, Kelsen JR, Spessott WA, Kooshesh K, Sanmillan ML, Dawany N, Sullivan KE, Hamilton KE, Slowik V, Nejentsev S, Neves JF, Flores H, Chung WK, Wilson A, Anyane-Yeboa K, Wou K, Jain P, Field M, Tollefson S, Dent MH, Li D, Naito T, McGovern DPB, Kwong AC, Taliaferro F, Ordovas-Montanes J, Horwitz BH, Kotlarz D, Klein C, Evans J, Dorsey J, Warner N, Elkadri A, Muise AM, Goldsmith J, Thompson B, Engelhardt KR, Cant AJ, Hambleton S, Barclay A, Toth-Petroczy A, Vuzman D, Carmichael N, Bodea C, Cassa CA, Devoto M, Maas RL, Behrens EM, Giraudo CG, Snapper SB. Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation. J Crohns Colitis. 2021 Nov 08; 15(11):1908-1919. PMID: 33891011; PMCID: PMC8575043.
    Citations:    Fields:    Translation:Humans
  22. Tsou AM, Goettel JA, Bao B, Biswas A, Kang YH, Redhu NS, Peng K, Putzel GG, Saltzman J, Kelly R, Gringauz J, Barends J, Hatazaki M, Frei SM, Emani R, Huang Y, Shen Z, Fox JG, Glickman JN, Horwitz BH, Snapper SB. Utilizing a reductionist model to study host-microbe interactions in intestinal inflammation. Microbiome. 2021 11 03; 9(1):215. PMID: 34732258; PMCID: PMC8565002.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  23. Ta AD, Ollberding NJ, Karns R, Haberman Y, Alazraki AL, Hercules D, Baldassano R, Markowitz J, Heyman MB, Kim S, Kirschner B, Shapiro JM, Noe J, Oliva-Hemker M, Otley A, Pfefferkorn M, Kellermayer R, Snapper S, Rabizadeh S, Xavier R, Dubinsky M, Hyams J, Kugathasan S, Jegga AG, Dillman JR, Denson LA. Association of Baseline Luminal Narrowing With Ileal Microbial Shifts and Gene Expression Programs and Subsequent Transmural Healing in Pediatric Crohn Disease. Inflamm Bowel Dis. 2021 10 20; 27(11):1707-1718. PMID: 33452801; PMCID: PMC8528150.
    Citations: 1     Fields:    Translation:Humans
  24. Ackermann M, Mucci A, McCabe A, Frei S, Wright K, Snapper SB, Lachmann N, Williams DA, Brendel C. Restored Macrophage Function Ameliorates Disease Pathophysiology in a Mouse Model for IL10 Receptor-deficient Very Early Onset Inflammatory Bowel Disease. J Crohns Colitis. 2021 Sep 25; 15(9):1588-1595. PMID: 33596307; PMCID: PMC8464221.
    Citations: 1     Fields:    Translation:AnimalsCells
  25. Genshaft AS, Ziegler CGK, Tzouanas CN, Mead BE, Jaeger AM, Navia AW, King RP, Mana MD, Huang S, Mitsialis V, Snapper SB, Yilmaz ÖH, Jacks T, Van Humbeck JF, Shalek AK. Publisher Correction: Live cell tagging tracking and isolation for spatial transcriptomics using photoactivatable cell dyes. Nat Commun. 2021 Sep 03; 12(1):5361. PMID: 34480027.
    Citations:    Fields:    
  26. Genshaft AS, Ziegler CGK, Tzouanas CN, Mead BE, Jaeger AM, Navia AW, King RP, Mana MD, Huang S, Mitsialis V, Snapper SB, Yilmaz ÖH, Jacks T, Van Humbeck JF, Shalek AK. Live cell tagging tracking and isolation for spatial transcriptomics using photoactivatable cell dyes. Nat Commun. 2021 08 17; 12(1):4995. PMID: 34404785; PMCID: PMC8371137.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  27. Chen Z, Luo J, Li J, Kim G, Chen ES, Xiao S, Snapper SB, Bao B, An D, Blumberg RS, Lin CH, Wang S, Zhong J, Liu K, Li Q, Wu C, Kuchroo VK. Foxo1 controls gut homeostasis and commensalism by regulating mucus secretion. J Exp Med. 2021 09 06; 218(9). PMID: 34287641; PMCID: PMC8424467.
    Citations: 5     Fields:    Translation:AnimalsCells
  28. Olaloye OO, Liu P, Toothaker JM, McCourt BT, McCourt CC, Xiao J, Prochaska E, Shaffer S, Werner L, Gringauz J, Good M, Goldsmith JD, An X, Wang F, Snapper SB, Shouval D, Chen K, Tseng G, Konnikova L. CD16+CD163+ monocytes traffic to sites of inflammation during necrotizing enterocolitis in premature infants. J Exp Med. 2021 09 06; 218(9). PMID: 34269788; PMCID: PMC8289692.
    Citations: 2     Fields:    Translation:HumansCells
  29. Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králícková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B. Therapeutic options for CTLA-4 insufficiency. J Allergy Clin Immunol. 2022 02; 149(2):736-746. PMID: 34111452.
    Citations: 10     Fields:    Translation:Humans
  30. Konnikova L, Robinson TO, Owings AH, Shirley JF, Davis E, Tang Y, Wall S, Li J, Hasan MH, Gharaibeh RZ, Mendoza Alvarez LB, Ryan LK, Doty A, Chovanec JF, O'Connell MP, Grunes DE, Daley WP, Mayer E, Chang L, Liu J, Snapper SB, Milner JD, Glover SC, Lyons JJ. Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia. J Allergy Clin Immunol. 2021 09; 148(3):813-821.e7. PMID: 33865872; PMCID: PMC9017395.
    Citations: 2     Fields:    Translation:HumansCells
  31. Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet. 2021 04; 53(4):500-510. PMID: 33782605; PMCID: PMC8245161.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  32. Kritikou JS, Oliveira MM, Record J, Saeed MB, Nigam SM, He M, Keszei M, Wagner AK, Brauner H, Sendel A, Sedimbi SK, Rentouli S, Lane DP, Snapper SB, Kärre K, Vandenberghe P, Orange JS, Westerberg LS. Constitutive activation of WASp leads to abnormal cytotoxic cells with increased granzyme B and degranulation response to target cells. JCI Insight. 2021 03 22; 6(6). PMID: 33621210; PMCID: PMC8026198.
    Citations: 1     Fields:    Translation:AnimalsCells
  33. Nambu R, Warner N, Mulder DJ, Kotlarz D, McGovern DPB, Cho J, Klein C, Snapper SB, Griffiths AM, Iwama I, Muise AM. A Systematic Review of Monogenic Inflammatory Bowel Disease. Clin Gastroenterol Hepatol. 2022 04; 20(4):e653-e663. PMID: 33746097; PMCID: PMC8448782.
    Citations: 4     Fields:    Translation:Humans
  34. Bosa L, Batura V, Colavito D, Fiedler K, Gaio P, Guo C, Li Q, Marzollo A, Mescoli C, Nambu R, Pan J, Perilongo G, Warner N, Zhang S, Kotlarz D, Klein C, Snapper SB, Walters TD, Leon A, Griffiths AM, Cananzi M, Muise AM. Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease. Sci Rep. 2021 03 15; 11(1):5945. PMID: 33723309.
    Citations: 3     Fields:    Translation:Humans
  35. Uhlig HH, Charbit-Henrion F, Kotlarz D, Shouval DS, Schwerd T, Strisciuglio C, de Ridder L, van Limbergen J, Macchi M, Snapper SB, Ruemmele FM, Wilson DC, Travis SPL, Griffiths AM, Turner D, Klein C, Muise AM, Russell RK. Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2021 03 01; 72(3):456-473. PMID: 33346580; PMCID: PMC8221730.
    Citations: 11     Fields:    Translation:Humans
  36. 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 02 16; 27(3):295-302. PMID: 32386060; PMCID: PMC8177809.
    Citations: 5     Fields:    Translation:Humans
  37. Ye Z, Hu W, Wu B, Zhang Y, Lei C, Williams I, Shouval DS, Kanegane H, Kim KM, de Ridder L, Shah N, Ling G, Yerushalmi B, Kotlarz D, Snapper S, Horn R, Klein C, Muise AM, Huang Y, Uhlig HH. Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects. J Pediatr Gastroenterol Nutr. 2021 02 01; 72(2):276-281. PMID: 32925557; PMCID: PMC8191811.
    Citations: 3     Fields:    Translation:Humans
  38. Gettler K, Levantovsky R, Moscati A, Giri M, Wu Y, Hsu NY, Chuang LS, Sazonovs A, Venkateswaran S, Korie U, Chasteau C, Duerr RH, Silverberg MS, Snapper SB, Daly MJ, McGovern DP, Brant SR, Rioux JD, Kugathasan S, Anderson CA, Itan Y, Cho JH. Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort. Gastroenterology. 2021 04; 160(5):1546-1557. PMID: 33359885; PMCID: PMC8237248.
    Citations: 8     Fields:    Translation:Humans
  39. Li Y, Toothaker JM, Ben-Simon S, Ozeri L, Schweitzer R, McCourt BT, McCourt CC, Werner L, Snapper SB, Shouval DS, Khatib S, Koren O, Agnihorti S, Tseng G, Konnikova L. In utero human intestine harbors unique metabolome, including bacterial metabolites. JCI Insight. 2020 11 05; 5(21). PMID: 33001863.
    Citations: 8     Fields:    Translation:HumansCells
  40. Dhingani N, Guo C, Pan J, Li Q, Warner N, Jardine S, Leung G, Kotlarz D, Gonzaga-Jauregui C, Klein C, Snapper SB, Navas-López VM, Muise AM. The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease. Sci Rep. 2020 10 29; 10(1):18648. PMID: 33122718.
    Citations: 2     Fields:    Translation:HumansCells
  41. Vardi I, Chermesh I, Werner L, Barel O, Freund T, McCourt C, Fisher Y, Pinsker M, Javasky E, Weiss B, Rechavi G, Hagin D, Snapper SB, Somech R, Konnikova L, Shouval DS. Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis. Front Immunol. 2020; 11:1775. PMID: 33013830.
    Citations: 1     Fields:    Translation:Humans
  42. 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 08. PMID: 32770196.
    Citations: 7     Fields:    
  43. Ziv A, Werner L, Konnikova L, Awad A, Jeske T, Hastreiter M, Mitsialis V, Stauber T, Wall S, Kotlarz D, Klein C, Snapper SB, Tzfati Y, Weiss B, Somech R, Shouval DS. An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency. J Clin Immunol. 2020 10; 40(7):1010-1019. PMID: 32710398.
    Citations: 2     Fields:    Translation:HumansCells
  44. Khoshnevisan R, Anderson M, Babcock S, Anderson S, Illig D, Marquardt B, Sherkat R, Schröder K, Moll F, Hollizeck S, Rohlfs M, Walz C, Adibi P, Rezaei A, Andalib A, Koletzko S, Muise AM, Snapper SB, Klein C, Thiagarajah JR, Kotlarz D. NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency. Inflamm Bowel Dis. 2020 07 17; 26(8):1166-1176. PMID: 32064493.
    Citations: 3     Fields:    Translation:HumansCells
  45. Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. PMID: 33574273.
    Citations:    
  46. Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. PMID: 32655885.
    Citations: 9     
  47. Mitsialis V, Wall S, Liu P, Ordovas-Montanes J, Parmet T, Vukovic M, Spencer D, Field M, McCourt C, Toothaker J, Bousvaros A, Shalek AK, Kean L, Horwitz B, Goldsmith J, Tseng G, Snapper SB, Konnikova L. Single-Cell Analyses of Colon and Blood Reveal Distinct Immune Cell Signatures of Ulcerative Colitis and Crohn's Disease. Gastroenterology. 2020 08; 159(2):591-608.e10. PMID: 32428507; PMCID: PMC8166295.
    Citations: 31     Fields:    Translation:Humans
  48. Ouahed J, Spencer E, Kotlarz D, Shouval DS, Kowalik M, Peng K, Field M, Grushkin-Lerner L, Pai SY, Bousvaros A, Cho J, Argmann C, Schadt E, Mcgovern DPB, Mokry M, Nieuwenhuis E, Clevers H, Powrie F, Uhlig H, Klein C, Muise A, Dubinsky M, Snapper SB. Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies. Inflamm Bowel Dis. 2020 05 12; 26(6):820-842. PMID: 31833544; PMCID: PMC7216773.
    Citations: 29     Fields:    Translation:Humans
  49. Ziegler CGK, Allon SJ, Nyquist SK, Mbano IM, Miao VN, Tzouanas CN, Cao Y, Yousif AS, Bals J, Hauser BM, Feldman J, Muus C, Wadsworth MH, Kazer SW, Hughes TK, Doran B, Gatter GJ, Vukovic M, Taliaferro F, Mead BE, Guo Z, Wang JP, Gras D, Plaisant M, Ansari M, Angelidis I, Adler H, Sucre JMS, Taylor CJ, Lin B, Waghray A, Mitsialis V, Dwyer DF, Buchheit KM, Boyce JA, Barrett NA, Laidlaw TM, Carroll SL, Colonna L, Tkachev V, Peterson CW, Yu A, Zheng HB, Gideon HP, Winchell CG, Lin PL, Bingle CD, Snapper SB, Kropski JA, Theis FJ, Schiller HB, Zaragosi LE, Barbry P, Leslie A, Kiem HP, Flynn JL, Fortune SM, Berger B, Finberg RW, Kean LS, Garber M, Schmidt AG, Lingwood D, Shalek AK, Ordovas-Montanes J. SARS-CoV-2 Receptor ACE2 Is an Interferon-Stimulated Gene in Human Airway Epithelial Cells and Is Detected in Specific Cell Subsets across Tissues. Cell. 2020 05 28; 181(5):1016-1035.e19. PMID: 32413319; PMCID: PMC7252096.
    Citations: 986     Fields:    Translation:HumansAnimalsCellsPHPublic Health
  50. Tsou AM, Olesen SW, Alm EJ, Snapper SB. 16S rRNA sequencing analysis: the devil is in the details. Gut Microbes. 2020 09 02; 11(5):1139-1142. PMID: 32329652; PMCID: PMC7524321.
    Citations: 1     Fields:    Translation:AnimalsCells
  51. Kelsen JR, Sullivan KE, Rabizadeh S, Singh N, Snapper S, Elkadri A, Grossman AB. North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease. J Pediatr Gastroenterol Nutr. 2020 03; 70(3):389-403. PMID: 32079889.
    Citations: 21     Fields:    Translation:Humans
  52. Serra EG, Schwerd T, Moutsianas L, Cavounidis A, Fachal L, Pandey S, Kammermeier J, Croft NM, Posovszky C, Rodrigues A, Russell RK, Barakat F, Auth MKH, Heuschkel R, Zilbauer M, Fyderek K, Braegger C, Travis SP, Satsangi J, Parkes M, Thapar N, Ferry H, Matte JC, Gilmour KC, Wedrychowicz A, Sullivan P, Moore C, Sambrook J, Ouwehand W, Roberts D, Danesh J, Baeumler TA, Fulga TA, Carrami EM, Ahmed A, Wilson R, Barrett JC, Elkadri A, Griffiths AM, Snapper SB, Shah N, Muise AM, Wilson DC, Uhlig HH, Anderson CA. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. Nat Commun. 2020 02 21; 11(1):995. PMID: 32081864; PMCID: PMC7035382.
    Citations: 18     Fields:    Translation:Humans
  53. Crowley E, Warner N, Pan J, Khalouei S, Elkadri A, Fiedler K, Foong J, Turinsky AL, Bronte-Tinkew D, Zhang S, Hu J, Tian D, Li D, Horowitz J, Siddiqui I, Upton J, Roifman CM, Church PC, Wall DA, Ramani AK, Kotlarz D, Klein C, Uhlig H, Snapper SB, Gonzaga-Jauregui C, Paterson AD, McGovern DPB, Brudno M, Walters TD, Griffiths AM, Muise AM. Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. Gastroenterology. 2020 06; 158(8):2208-2220. PMID: 32084423; PMCID: PMC7283012.
    Citations: 23     Fields:    Translation:Humans
  54. Werner L, Lee YN, Rechavi E, Lev A, Yerushalmi B, Ling G, Shah N, Uhlig HH, Weiss B, Somech R, Snapper SB, Shouval DS. Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD. Front Immunol. 2020; 11:109. PMID: 32117262.
    Citations: 4     Fields:    Translation:HumansCells
  55. Kelsen JR, Sullivan KE, Rabizadeh S, Singh N, Snapper S, Elkadri A, Grossman AB. NASPGHAN Position Paper on The Evaluation and Management for Patients with Very Early-Onset Inflammatory Bowel Disease (VEO-IBD). J Pediatr Gastroenterol Nutr. 2019 Dec 30. PMID: 31899730.
    Citations:    Fields:    
  56. Luong P, Li Q, Chen PF, Wrighton PJ, Chang D, Dwyer S, Bayer MT, Snapper SB, Hansen SH, Thiagarajah JR, Goessling W, Lencer WI. A quantitative single-cell assay for retrograde membrane traffic enables rapid detection of defects in cellular organization. Mol Biol Cell. 2020 03 19; 31(7):511-519. PMID: 31774722.
    Citations: 3     Fields:    Translation:HumansCells
  57. Jardine S, Anderson S, Babcock S, Leung G, Pan J, Dhingani N, Warner N, Guo C, Siddiqui I, Kotlarz D, Dowling JJ, Melnyk RA, Snapper SB, Klein C, Thiagarajah JR, Muise AM. Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency. Gastroenterology. 2020 03; 158(4):1000-1015. PMID: 31743734; PMCID: PMC7062591.
    Citations: 14     Fields:    Translation:HumansAnimalsCells
  58. Sprockett D, Fischer N, Boneh RS, Turner D, Kierkus J, Sladek M, Escher JC, Wine E, Yerushalmi B, Dias JA, Shaoul R, Kori M, Snapper SB, Holmes S, Bousvaros A, Levine A, Relman DA. Treatment-Specific Composition of the Gut Microbiota Is Associated With Disease Remission in a Pediatric Crohn's Disease Cohort. Inflamm Bowel Dis. 2019 11 14; 25(12):1927-1938. PMID: 31276165.
    Citations: 6     Fields:    Translation:Humans
  59. Tyagi RK, Li J, Jacobse J, Snapper SB, Shouval DS, Goettel JA. Humanized mouse models of genetic immune disorders and hematological malignancies. Biochem Pharmacol. 2020 04; 174:113671. PMID: 31634456.
    Citations: 3     Fields:    Translation:HumansAnimals
  60. Magg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V, Conca R, Unal E, Karacabey N, Mukhina A, Rodina Y, Taur PD, Illig D, Marquardt B, Hollizeck S, Jeske T, Gothe F, Schober T, Rohlfs M, Koletzko S, Lurz E, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D. CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease. Inflamm Bowel Dis. 2019 10 18; 25(11):1788-1795. PMID: 31115454.
    Citations: 9     Fields:    Translation:HumansCells
  61. Lekbua A, Ouahed J, O'Connell AE, Kahn SA, Goldsmith JD, Imamura T, Duncan CN, Kelsen JR, Worthey E, Snapper SB, Softic S. Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. J Pediatr Gastroenterol Nutr. 2019 07; 69(1):e13-e18. PMID: 31232887; PMCID: PMC6607918.
    Citations: 9     Fields:    Translation:Humans
  62. Krishnakumar C, Ballengee CR, Liu C, Kim MO, Baker SS, Baldassano RN, Cohen SA, Crandall WV, Denson LA, Dubinsky MC, Evans J, Gokhale R, Griffiths A, Guthery SL, Oliva-Hemker M, Heyman MB, Keljo D, Kellermayer R, Leleiko NS, Mack DR, Markowitz JF, Moulton DE, Noe JD, Otley AR, Patel AS, Pfefferkorn M, Rabizadeh S, Rosh JR, Snapper S, Walters TD, Ziring D, Mondal K, Kappelman MD, Hyams JS, Kugathasan S. Variation in Care in the Management of Children With Crohn's Disease: Data From a Multicenter Inception Cohort Study. Inflamm Bowel Dis. 2019 06 18; 25(7):1208-1217. PMID: 30601983.
    Citations: 3     Fields:    Translation:Humans
  63. Boden EK, Canavan JB, Moran CJ, McCann K, Dunn WA, Farraye FA, Ananthakrishnan AN, Yajnik V, Gandhi R, Nguyen DD, Bhan AK, Weiner HL, Korzenik JR, Snapper SB. Immunologic Alterations Associated With Oral Delivery of Anti-CD3 (OKT3) Monoclonal Antibodies in Patients With Moderate-to-Severe Ulcerative Colitis. Crohns Colitis 360. 2019 Jul; 1(2):otz009. PMID: 31423487; PMCID: PMC6690423.
    Citations: 6     
  64. Duvallet C, Larson K, Snapper S, Iosim S, Lee A, Freer K, May K, Alm E, Rosen R. Aerodigestive sampling reveals altered microbial exchange between lung, oropharyngeal, and gastric microbiomes in children with impaired swallow function. PLoS One. 2019; 14(5):e0216453. PMID: 31107879.
    Citations: 3     Fields:    Translation:HumansCellsCTClinical Trials
  65. Pizarro TT, Stappenbeck TS, Rieder F, Rosen MJ, Colombel JF, Donowitz M, Towne J, Mazmanian SK, Faith JJ, Hodin RA, Garrett WS, Fichera A, Poritz LS, Cortes CJ, Shtraizent N, Honig G, Snapper SB, Hurtado-Lorenzo A, Salzman NH, Chang EB. Challenges in IBD Research: Preclinical Human IBD Mechanisms. Inflamm Bowel Dis. 2019 05 16; 25(Suppl 2):S5-S12. PMID: 31095706.
    Citations: 16     Fields:    Translation:HumansAnimals
  66. Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, Mitsialis V, Mory A, Nunberg MY, Wall S, Shaoul R, Overton JD, Shuldiner AR, Zohar Y, Paperna T, Snapper SB, Shouval DS, Baris Feldman H. A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. J Clin Immunol. 2019 05; 39(4):430-439. PMID: 31079270.
    Citations: 6     Fields:    Translation:HumansCells
  67. Goettel JA, Kotlarz D, Emani R, Canavan JB, Konnikova L, Illig D, Frei SM, Field M, Kowalik M, Peng K, Gringauz J, Mitsialis V, Wall SM, Tsou A, Griffith AE, Huang Y, Friedman JR, Towne JE, Plevy SE, O'Hara Hall A, Snapper SB. Low-Dose Interleukin-2 Ameliorates Colitis in a Preclinical Humanized Mouse Model. Cell Mol Gastroenterol Hepatol. 2019; 8(2):193-195. PMID: 31078723.
    Citations: 14     Fields:    Translation:Animals
  68. Graham WV, He W, Marchiando AM, Zha J, Singh G, Li HS, Biswas A, Ong MLDM, Jiang ZH, Choi W, Zuccola H, Wang Y, Griffith J, Wu J, Rosenberg HJ, Wang Y, Snapper SB, Ostrov D, Meredith SC, Miller LW, Turner JR. Intracellular MLCK1 diversion reverses barrier loss to restore mucosal homeostasis. Nat Med. 2019 04; 25(4):690-700. PMID: 30936544; PMCID: PMC6461392.
    Citations: 39     Fields:    Translation:HumansAnimalsCells
  69. Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, Jaiswal JK, Whitsett J, Hamilton KE, MacParland SA, Kelsen J, Heuckeroth RO, Potter SS, Vella LA, Terry NA, Ghanem LR, Kennedy BC, Helbig I, Sullivan KE, Castelo-Soccio L, Kreigstein A, Herse F, Nawijn MC, Koppelman GH, Haendel M, Harris NL, Rokita JL, Zhang Y, Regev A, Rozenblatt-Rosen O, Rood JE, Tickle TL, Vento-Tormo R, Alimohamed S, Lek M, Mar JC, Loomes KM, Barrett DM, Uapinyoying P, Beggs AH, Agrawal PB, Chen YW, Muir AB, Garmire LX, Snapper SB, Nazarian J, Seeholzer SH, Fazelinia H, Singh LN, Faryabi RB, Raman P, Dawany N, Xie HM, Devkota B, Diskin SJ, Anderson SA, Rappaport EF, Peranteau W, Wikenheiser-Brokamp KA, Teichmann S, Wallace D, Peng T, Ding YY, Kim MS, Xing Y, Kong SW, Bönnemann CG, Mandl KD, White PS. The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. Dev Cell. 2019 04 08; 49(1):10-29. PMID: 30930166.
    Citations: 25     Fields:    Translation:Humans
  70. Kang YH, Biswas A, Field M, Snapper SB. STAT1 signaling shields T cells from NK cell-mediated cytotoxicity. Nat Commun. 2019 02 22; 10(1):912. PMID: 30796216; PMCID: PMC6385318.
    Citations: 8     Fields:    Translation:AnimalsCells
  71. Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D, Valencia CA, Dodd A, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, Jackson K, Walters TD, Griffiths A, Baldassano RN, Noe JD, Hyams JS, Crandall WV, Kirschner BS, Heyman MB, Snapper S, Guthery SL, Dubinsky MC, Leleiko NS, Otley AR, Xavier RJ, Stevens C, Daly MJ, Zwick ME, Kugathasan S. Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease. Inflamm Bowel Dis. 2019 02 21; 25(3):547-560. PMID: 30124884; PMCID: PMC6391846.
    Citations: 4     Fields:    Translation:HumansCells
  72. Lekbua A, Ouahed J, O'Connell AE, Kahn SA, Goldsmith JD, Imamura T, Duncan CN, Kelsen JR, Worthey E, Snapper SB, Softic S. Risk-factors Associated with Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. J Pediatr Gastroenterol Nutr. 2019 Feb 07. PMID: 30747812.
    Citations:    
  73. Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. Proc Natl Acad Sci U S A. 2019 01 15; 116(3):970-975. PMID: 30591564; PMCID: PMC6338855.
    Citations: 48     Fields:    Translation:HumansCells
  74. Haberman Y, Schirmer M, Dexheimer PJ, Karns R, Braun T, Kim MO, Walters TD, Baldassano RN, Noe JD, Rosh J, Markowitz J, Crandall WV, Mack DR, Griffiths AM, Heyman MB, Baker SS, Kellermayer R, Moulton D, Patel AS, Gulati AS, Steiner SJ, LeLeiko N, Otley A, Oliva-Hemker M, Ziring D, Kirschner BS, Keljo DJ, Guthery SL, Cohen SA, Snapper S, Evans J, Dubinsky M, Aronow B, Hyams JS, Kugathasan S, Huttenhower C, Xavier RJ, Denson LA. Age-of-diagnosis dependent ileal immune intensification and reduced alpha-defensin in older versus younger pediatric Crohn Disease patients despite already established dysbiosis. Mucosal Immunol. 2019 03; 12(2):491-502. PMID: 30542108; PMCID: PMC6375755.
    Citations: 7     Fields:    Translation:HumansCells
  75. Ouahed J, Gordon W, Canavan JB, Zhou H, Du S, von Schack D, Phillips K, Wang L, Dunn WA, Field M, Friel S, Griffith A, Evans S, Tollefson S, Carrellas M, Cao B, Merker A, Bousvaros A, Shouval DS, Hung K, Lepsy C, Afzelius L, Korzenik JR, Snapper SB. Mucosal Gene Expression in Pediatric and Adult Patients With Ulcerative Colitis Permits Modeling of Ideal Biopsy Collection Strategy for Transcriptomic Analysis. Inflamm Bowel Dis. 2018 11 29; 24(12):2565-2578. PMID: 30085215; PMCID: PMC6265054.
    Citations: 7     Fields:    Translation:Humans
  76. 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 10; 113(10):1524-1529. PMID: 30267029.
    Citations: 8     Fields:    Translation:HumansPHPublic Health
  77. Lehle AS, Farin HF, Marquardt B, Michels BE, Magg T, Li Y, Liu Y, Ghalandary M, Lammens K, Hollizeck S, Rohlfs M, Hauck F, Conca R, Walz C, Weiss B, Lev A, Simon AJ, Groß O, Gaidt MM, Hornung V, Clevers H, Yazbeck N, Hanna-Wakim R, Shouval DS, Warner N, Somech R, Muise AM, Snapper SB, Bufler P, Koletzko S, Klein C, Kotlarz D. Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency. Gastroenterology. 2019 01; 156(1):275-278. PMID: 30267714.
    Citations: 42     Fields:    Translation:HumansAnimalsCells
  78. Ryzhakov G, West NR, Franchini F, Clare S, Ilott NE, Sansom SN, Bullers SJ, Pearson C, Costain A, Vaughan-Jackson A, Goettel JA, Ermann J, Horwitz BH, Buti L, Lu X, Mukhopadhyay S, Snapper SB, Powrie F. Alpha kinase 1 controls intestinal inflammation by suppressing the IL-12/Th1 axis. Nat Commun. 2018 09 18; 9(1):3797. PMID: 30228258.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  79. Chandradevan R, Hofmekler T, Mondal K, Harun N, Venkateswaran S, Somineni HK, Ballengee CR, Kim MO, Griffiths A, Noe JD, Crandall WV, Snapper S, Rabizadeh S, Rosh JR, Walters TD, Bertha M, Dubinsky MC, Denson LA, Sauer CG, Markowitz JF, LeLeiko NS, Hyams JS, Kugathasan S. Evolution of Pediatric Inflammatory Bowel Disease Unclassified (IBD-U): Incorporated With Serological and Gene Expression Profiles. Inflamm Bowel Dis. 2018 09 15; 24(10):2285-2290. PMID: 29860529.
    Citations: 1     Fields:    Translation:HumansCells
  80. Egg D, Schwab C, Gabrysch A, Arkwright PD, Cheesman E, Giulino-Roth L, Neth O, Snapper S, Okada S, Moutschen M, Delvenne P, Pecher AC, Wolff D, Kim YJ, Seneviratne S, Kim KM, Kang JM, Ojaimi S, McLean C, Warnatz K, Seidl M, Grimbacher B. Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers. Front Immunol. 2018; 9:2012. PMID: 30250467.
    Citations: 28     Fields:    Translation:HumansCells
  81. Keszei M, Record J, Kritikou JS, Wurzer H, Geyer C, Thiemann M, Drescher P, Brauner H, Köcher L, James J, He M, Baptista MA, Dahlberg CI, Biswas A, Lane DP, Song W, Pütsep K, Vandenberghe P, Snapper SB, Westerberg LS. Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive. J Clin Invest. 2018 08 31; 128(9):4115-4131. PMID: 30124469.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  82. Konnikova L, Boschetti G, Rahman A, Mitsialis V, Lord J, Richmond C, Tomov VT, Gordon W, Jelinsky S, Canavan J, Liss A, Wall S, Field M, Zhou F, Goldsmith JD, Bewtra M, Breault DT, Merad M, Snapper SB. High-dimensional immune phenotyping and transcriptional analyses reveal robust recovery of viable human immune and epithelial cells from frozen gastrointestinal tissue. Mucosal Immunol. 2018 11; 11(6):1684-1693. PMID: 30111863; PMCID: PMC6512331.
    Citations: 15     Fields:    Translation:Humans
  83. Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. NPJ Genom Med. 2018; 3:21. PMID: 30131872; PMCID: PMC6089983.
    Citations: 6     
  84. Li K, Strauss R, Ouahed J, Chan D, Telesco SE, Shouval DS, Canavan JB, Brodmerkel C, Snapper SB, Friedman JR. Molecular Comparison of Adult and Pediatric Ulcerative Colitis Indicates Broad Similarity of Molecular Pathways in Disease Tissue. J Pediatr Gastroenterol Nutr. 2018 07; 67(1):45-52. PMID: 29401083.
    Citations: 15     Fields:    Translation:HumansCTClinical Trials
  85. Shouval DS, Kowalik M, Snapper SB. The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies. J Clin Immunol. 2018 07; 38(5):579-588. PMID: 29956079.
    Citations: 5     Fields:    Translation:HumansAnimals
  86. Morris HT, Fort L, Spence HJ, Patel R, Vincent DF, Park JH, Snapper SB, Carey FA, Sansom OJ, Machesky LM. Loss of N-WASP drives early progression in an Apc model of intestinal tumourigenesis. J Pathol. 2018 07; 245(3):337-348. PMID: 29672847; PMCID: PMC6033012.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  87. Chi LY, Zitomersky NL, Liu E, Tollefson S, Bender-Stern J, Naik S, Snapper S, Bousvaros A. The Impact of Combination Therapy on Infliximab Levels and Antibodies in Children and Young Adults With Inflammatory Bowel Disease. Inflamm Bowel Dis. 2018 05 18; 24(6):1344-1351. PMID: 29718278.
    Citations: 7     Fields:    Translation:Humans