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Snapper, Scott
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Scott Brian Snapper, M.D.,Ph.D.
Title
Egan Family Foundation Professor of Pediatrics in the Field of Transitional Medicine, Professor of Medicine
Institution
Brigham and Women's Hospital
Department
Medicine
Address
Children's Hospital
Gastroenterology
300 Longwood Ave
Boston MA 02115
Fax
617/730-0498
Other Positions
Title
Egan Family Foundation Professor of Pediatrics in the Field of Transitional Medicine
Institution
Boston Children's Hospital
Department
Pediatrics
completed student projects
|
research activities and funding
|
selected publications
|
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.
Most Recent
|
List All
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
R01DK126448
(SNAPPER, SCOTT B)
Sep 1, 2020 - Jun 30, 2025
NIH
Low Dose Interleukin-2 for Regulatory T cell Modulation and the Treatment of Crohnâs Disease
Role: Principal Investigator
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
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
R01DK115217
(SNAPPER, SCOTT B)
Aug 1, 2017 - Jul 31, 2021
NIH
Type III interferon Control of Mucosal Immunity
Role: Principal Investigator
R01AI052354
(SNAPPER, SCOTT B)
Sep 15, 2003 - Dec 31, 2009
NIH
Cytoskeletal-Pathogen Interactions in Shigella Infection
Role: Principal Investigator
R01AI050950
(SNAPPER, SCOTT B)
Apr 5, 2002 - Jan 31, 2015
NIH
Exploring Regulatory T Cell Dysfunction in a Murine Model of Colitis
Role: Principal Investigator
R56AI050950
(SNAPPER, SCOTT B)
Apr 5, 2002 - Feb 14, 2009
NIH
Exploring Regulatory T Cell Dysfunction in a Murine Model of Colitis
Role: Principal Investigator
P01HL059561
(GEHA, RAIF SALIM)
Sep 30, 1997 - Aug 31, 2014
NIH
SIGNALING AND CYTOSKELETAL ORGANIZATION IN BLOOD CELLS
Role: Co-Principal Investigator
K08HL003749
(SNAPPER, SCOTT B)
Sep 1, 1997 - Aug 31, 2002
NIH
MOLECULAR AND GENETIC ANALYSIS OF A BLOOD CELL DISEASE
Role: Principal Investigator
P30DK034854
(LENCER, WAYNE I)
Sep 30, 1984 - Mar 31, 2026
NIH
Integrated Epithelial and Muscosal Biology
Role: Co-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.
Newest
|
Oldest
|
Most Cited
|
Most Discussed
|
Timeline
|
Field Summary
|
Plain Text
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.
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:
All
Allergy and Immunology
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:
All
Allergy and Immunology
Translation:
Humans
Cells
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:
All
Allergy and Immunology
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:
Sci
Science
Translation:
Animals
Cells
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:
Gas
Gastroenterology
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:
Med
Medicine (General)
Translation:
Humans
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:
All
Allergy and Immunology
Translation:
Humans
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:
Bio
Biology
Sci
Science
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:
Met
Metabolism
Ort
Orthopedics
Translation:
Humans
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:
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:
Gas
Gastroenterology
Nut
Nutritional Sciences
Ped
Pediatrics
Translation:
Humans
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:
Cel
Cell Biology
Translation:
Humans
Animals
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:
Sci
Science
Translation:
Humans
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:
Gen
Genetics
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:
Gas
Gastroenterology
Translation:
Humans
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:
Gas
Gastroenterology
Nut
Nutritional Sciences
Ped
Pediatrics
Translation:
Humans
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:
Sci
Science
Translation:
Humans
Animals
Cells
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:
Gen
General Surgery
Pat
Pathology
Translation:
Humans
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:
Med
Medicine (General)
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:
Gas
Gastroenterology
Translation:
Humans
Cells
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:
Gas
Gastroenterology
Translation:
Humans
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:
Gen
Genetics
Mic
Microbiology
Translation:
Humans
Animals
Cells
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:
Gas
Gastroenterology
Translation:
Humans
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:
Gas
Gastroenterology
Translation:
Animals
Cells
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:
Bio
Biology
Sci
Science
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:
Bio
Biology
Sci
Science
Translation:
Humans
Animals
Cells
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:
All
Allergy and Immunology
Med
Medicine (General)
Translation:
Animals
Cells
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:
All
Allergy and Immunology
Med
Medicine (General)
Translation:
Humans
Cells
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:
All
Allergy and Immunology
Translation:
Humans
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:
All
Allergy and Immunology
Translation:
Humans
Cells
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:
Gen
Genetics
Translation:
Humans
Animals
Cells
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:
Med
Medicine (General)
Translation:
Animals
Cells
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:
Gas
Gastroenterology
Translation:
Humans
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:
Sci
Science
Translation:
Humans
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:
Gas
Gastroenterology
Nut
Nutritional Sciences
Ped
Pediatrics
Translation:
Humans
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:
Gas
Gastroenterology
Translation:
Humans
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:
Gas
Gastroenterology
Nut
Nutritional Sciences
Ped
Pediatrics
Translation:
Humans
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:
Gas
Gastroenterology
Translation:
Humans
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:
Med
Medicine (General)
Translation:
Humans
Cells
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:
Sci
Science
Translation:
Humans
Cells
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:
All
Allergy and Immunology
Translation:
Humans
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:
Gas
Gastroenterology
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:
All
Allergy and Immunology
Translation:
Humans
Cells
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:
Gas
Gastroenterology
Translation:
Humans
Cells
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:
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
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:
Gas
Gastroenterology
Translation:
Humans
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:
Gas
Gastroenterology
Translation:
Humans
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:
Cel
Cell Biology
Translation:
Humans
Animals
Cells
PH
Public Health
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:
Gas
Gastroenterology
Mic
Microbiology
Translation:
Animals
Cells
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:
Gas
Gastroenterology
Nut
Nutritional Sciences
Ped
Pediatrics
Translation:
Humans
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:
Bio
Biology
Sci
Science
Translation:
Humans
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:
Gas
Gastroenterology
Translation:
Humans
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:
All
Allergy and Immunology
Translation:
Humans
Cells
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:
Gas
Gastroenterology
Nut
Nutritional Sciences
Ped
Pediatrics
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:
Cel
Cell Biology
Mol
Molecular Biology
Translation:
Humans
Cells
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:
Gas
Gastroenterology
Translation:
Humans
Animals
Cells
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:
Gas
Gastroenterology
Translation:
Humans
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:
Bio
Biochemistry
Pha
Pharmacology
Translation:
Humans
Animals
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:
Gas
Gastroenterology
Translation:
Humans
Cells
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:
Gas
Gastroenterology
Nut
Nutritional Sciences
Ped
Pediatrics
Translation:
Humans
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:
Gas
Gastroenterology
Translation:
Humans
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
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:
Med
Medicine (General)
Sci
Science
Translation:
Humans
Cells
CT
Clinical Trials
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:
Gas
Gastroenterology
Translation:
Humans
Animals
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:
All
Allergy and Immunology
Translation:
Humans
Cells
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:
Gas
Gastroenterology
Translation:
Animals
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:
Med
Medicine (General)
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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:
Cel
Cell Biology
Emb
Embryology
Translation:
Humans
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:
Bio
Biology
Sci
Science
Translation:
Animals
Cells
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:
Gas
Gastroenterology
Translation:
Humans
Cells
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:
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:
Sci
Science
Translation:
Humans
Cells
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:
All
Allergy and Immunology
Translation:
Humans
Cells
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:
Gas
Gastroenterology
Translation:
Humans
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:
Gas
Gastroenterology
Translation:
Humans
PH
Public Health
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:
Gas
Gastroenterology
Translation:
Humans
Animals
Cells
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:
Bio
Biology
Sci
Science
Translation:
Humans
Animals
Cells
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:
Gas
Gastroenterology
Translation:
Humans
Cells
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:
All
Allergy and Immunology
Translation:
Humans
Cells
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:
Med
Medicine (General)
Translation:
Humans
Animals
Cells
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:
All
Allergy and Immunology
Translation:
Humans
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
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:
Gas
Gastroenterology
Nut
Nutritional Sciences
Ped
Pediatrics
Translation:
Humans
CT
Clinical Trials
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:
All
Allergy and Immunology
Translation:
Humans
Animals
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:
Pat
Pathology
Translation:
Humans
Animals
Cells
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:
Gas
Gastroenterology
Translation:
Humans