Publications

2024

Multimodal single-cell analyses reveal mechanisms of perianal fistula in diverse patients with Crohn’s disease

Levantovsky RM, Tastad C, Zhang J, Gettler K, Sabic K, Werner R, Chasteau C, Korie U, Paguay D, Bao M, Han H,  Maskey N, Talware S, Patel M, Argmann C, Suarez-Farinas M, Harpaz N, Chuang LS, Cho JH. Med 2024 Aug 9; 5(8):886-908.E11. PMID: 38663404. DOI: 10.1016/j.medj.2024.03.021.


2023

NOX1 is essential for TNFα-induced intestinal epithelial ROS secretion and inhibits M cell signatures

Hsu NY, Nayar S, Gettler K, Talware S, Giri M, Alter I, Argmann C, Sabic K, Thin TH, Ko HBM, Werner R, Tastad C, Stappenbeck T, Azabdaftari A, Uhlig HH, Chuang LS, Cho JH. Gut 2023 Apr; 72:654-662. PMID: 36191961. DOI: 10.1136/gutjnl-2021-326305.


2021

A myeloid-stromal niche and gp130 rescue in NOD2-driven Crohn’s disease

Nayar S, Morrison JK, Giri M, Gettler K, Chuang LS, Walker LA, Ko HM, Kenigsberg E, Kugathasan S, Merad M, Chu J, Cho JH. Nature 2021 May 13; 593:275–281. PMID: 33789339. DOI: 10.1038/s41586-021-03484-5.

Inflamed Ulcerative Colitis Regions Associated With MRGPRX2-Mediated Mast Cell Degranulation and Cell Activation Modules, Defining a New Therapeutic Target

Hsu NY, Nayar S, Gettler K, Talware S, Giri M, Alter I, Argmann C, Sabic K, Thin TH, Ko HBM, Werner R, Tastad C,  Stappenbeck T, Azabdaftari A, Uhlig HH, Chuang LS, Cho JH. Gastroenterology 2021 APR; 160(5):1709 – 1724. PMID: 36191961. DOI: 10.1136/gutjnl-2021-326305.

Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort

Gettler K, Levantovsky R, Moscati A, Giri M, Wu Y, Hsu NY, Chuang LS, Sazonovs A, Venkateswaran S, Korie U,  Chasteau C, National Institute of Diabetes, Digestive UK IBD Genetics Consortium, Kidney Diseases Inflammatory Bowel Disease Genetics Consortium,  Duerr RH,  Silverberg MS, Snapper SB, Daly MJ, McGovern DP, Brant SR, Rioux JD, Kugathasan S,  Anderson CA, Itan Y, Cho JH. Gastroenterology 2021 Apr; 160(5): 1546 – 1557. PMID: 33359885. DOI: 10.1053/j.gastro.2020.12.034


2019

Single-cell analysis of Crohn’s disease lesions identifies a pathogenic cellular module associated with resistance to anti-TNF therapy.

Martin JC, Boschetti G, Chang C, Ungaro R, Giri M, Chuang LS, Nayar S, Greenstein A, Dubinsky M, Walker L, Leader A, Fine JS, Whitehurst CE, Mbow L, Kugathasan S, Denson LA, Hyams J, Friedman J, Desai P, Ko HM, Laface I, Akturk G, Schadt E, Gnjatic S, Rahman A, Merad M, Cho JH, Kenigsberg E. Cell 2019 Sep 5;178(6):1493-1508. PMID: 31474370 DOI: 10.1016/j.cell.2019.08.008

Zebrafish modeling of intestinal injury, bacterial exposures and medications defines epithelial in vivo responses relevant to human inflammatory bowel disease.

Chuang LS, Morrison J, Hsu NY, Labrias PR, Nayar S, Chen E, Villaverde N, Facey JA, Boschetti G, Giri M, Castillo-Martin M, Thin TH, Sharma Y, Chu J, Cho JH.
Disease Models and Mechanisms 2019 Aug 13;12(8). PMID: 31337664 PMCID: PMC6737949 DOI: 10.1242/dmm.037432

Prioritizing Crohn’s disease genes by integrating association signals with gene expression implicates monocyte subsets

Gettler K, Giri M, Kenigsberg E, Martin J, Chuang LS, Hsu NY, Denson LA, Hyams JS, Griffiths A, Noe JD, Crandall WV, Mack DR, Kellermayer R, Abraham C, Hoffman G, Kugathasan S, Cho JH. Genes Immun. 2019 Jan 29. doi: 10.1038/s41435-019-0059-y PMID: 30692607


2018

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease.
Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe’er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I. Sci Transl Med. 2018 Jan 10;10(423). pii: eaai7795. doi: 10.1126/scitranslmed.aai7795 PMID:29321258


Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai.

Scott SA, Owusu Obeng A, Botton MR, Yang Y, Scott ER, Ellis SB, Wallsten R, Kaszemacher T, Zhou X, Chen R, Nicoletti P, Naik H, Kenny EE, Vega A, Waite E, Diaz GA, Dudley J, Halperin JL, Edelmann L, Kasarskis A, Hulot JS, Peter I, Bottinger EP, Hirschhorn K, Sklar P, Cho JH, Desnick RJ, Schadt EE. Pharmacogenomics. 2017 Oct;18(15):1381-1386. doi: 10.2217/pgs-2017-0137. Epub 2017 Oct 6. PMID:28982267


2017

Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Huang H, Fang M, Jostins L, Umićević Mirkov M, Boucher G, Anderson CA, Andersen V, Cleynen I, Cortes A, Crins F, D’Amato M, Deffontaine V, Dmitrieva J, Docampo E, Elansary M, Farh KK, Franke A, Gori AS, Goyette P, Halfvarson J, Haritunians T, Knight J, Lawrance IC, Lees CW, Louis E, Mariman R, Meuwissen T, Mni M, Momozawa Y, Parkes M, Spain SL, Théâtre E, Trynka G, Satsangi J, van Sommeren S, Vermeire S, Xavier RJ; International Inflammatory Bowel Disease Genetics Consortium, Weersma RK, Duerr RH, Mathew CG, Rioux JD, McGovern DPB, Cho JH, Georges M, Daly MJ, Barrett JC. Nature. 2017 Jul 13;547(7662):173-178. doi: 10.1038/nature22969. Epub 2017 Jun 28.

Prediction of complicated disease course for children newly diagnosed with Crohn’s disease: a multicentre inception cohort study

Kugathasan S, Denson LA, Walters TD, Kim MO, Marigorta UM, Schirmer M, Mondal K, Liu C, Griffiths A, Noe JD, Crandall WV, Snapper S, Rabizadeh S, Rosh JR, Shapiro JM, Guthery S, Mack DR, Kellermayer R, Kappelman MD, Steiner S, Moulton DE, Keljo D, Cohen S, Oliva-Hemker M, Heyman MB, Otley AR, Baker SS, Evans JS, Kirschner BS, Patel AS, Ziring D, Trapnell BC, Sylvester FA, Stephens MC, Baldassano RN, Markowitz JF, Cho JH, Xavier RJ, Huttenhower C, Aronow BJ, Gibson G, Hyams JS, Dubinsky MC.
Lancet. 2017 Mar 1. pii

Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease.

Brant SR, Okou DT, Simpson CL, Cutler DJ, Haritunians T, Bradfield JP, Chopra P, Prince J, Begum F, Kumar A, Huang C, Venkateswaran S, Datta LW, Wei Z, Thomas K, Herrinton LJ, Klapproth JA, Quiros AJ, Seminerio J, Liu Z, Alexander JS, Baldassano RN, Dudley-Brown S, Cross RK, Dassopoulos T, Denson LA, Dhere TA, Dryden GW, Hanson JS, Hou JK, Hussain SZ, Hyams JS, Isaacs KL, Kader H, Kappelman MD, Katz J, Kellermayer R, Kirschner BS, Kuemmerle JF, Kwon JH, Lazarev M, Li E, Mack D, Mannon P, Moulton DE, Newberry RD, Osuntokun BO, Patel AS, Saeed SA, Targan SR, Valentine JF, Wang MH, Zonca M, Rioux JD, Duerr RH, Silverberg MS, Cho JH, Hakonarson H, Zwick ME, McGovern DP, Kugathasan S.Gastroenterology. 2017 Jan;152(1):206-217.e2. doi: 10.1053/j.gastro.2016.09.032. Epub 2016 Sep 28.PMID:27693347


2016

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn’s Disease and Reduces Monocyte Signaling via GM-CSF.
Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Evelyn Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Schiff ER, Gusev A, Schumm LP, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Sands BE, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Taylor K, Rotter JI, Scherl EJ, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe’er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Merad M, McGovern DP, Peter I, Cho JH.
Gastroenterology. 2016 Oct;151(4):710-723.e2. doi: 10.1053/j.gastro.2016.06.045. Epub 2016 Jul 1.


2015

Bridging the Gap Between Host Immune Response and Intestinal Dysbiosis in Inflammatory Bowel Disease: Does IgA Mark the Spot? 
Shapiro JM, Cho JH,  Sands BE, LeLeiko NS.
Clinical Gastroenterology and Hepatology, 2015, Epub Ahead of Print.


2014

Immunoglobulin A coating identifies colitogenic bacteria in inflammatory bowel disease.
Palm NW, de Zoete MR, Cullen TW, Barry NA, Stefanowski J, Hao L, Degnan PH, Hu J, Peter I, Zhang W, Ruggiero E, Cho JH, Goodman AL, Flavell RA.
Cell, 2014, 158(5):1000-10.

Pattern recognition receptor signaling in human dendritic cells is enhanced by ICOS ligand and modulated by the Crohn’s disease ICOSLG risk allele.
Hedl M, Lahiri A, Ning K, Cho JH, Abraham C.
Immunity, 2014, 40(5):734-46.


2013

Extended haplotype association study in Crohn’s disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.
Zhang W, Hui KY, Gusev A, Warner N, Ng SM, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick RJ, Cardinale CJ, Hakonarson H, Waterman M, Chowers Y, Karban A, Brant SR, Silverberg MS, Gregersen PK, Katz S, Lifton RP, Zhao H, Nuñez G, Pe’er I, Peter I, Cho JH.
Genes and Immunity, 2013, 14(5):310-6.

Age and CD161 expression contribute to inter-individual variation in interleukin-23 response in CD8+ memory human T cells.
Shen H, Zhang W, Abraham C, Cho JH.
PLoS,  2013, 8(3):e57746.


2012

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Büning C, Cohain A, Cichon S, D’Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H; International IBD Genetics Consortium (IIBDGC), Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC, Cho JH.
Nature, 2012, 491(7422):119-24.

A genome-wide scan of Ashkenazi Jewish Crohn’s disease suggests novel susceptibility loci.
Kenny EE, Pe’er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I.
PLoS Genetics, 2012, 8(3):e1002559.


2011

Genomics and the multifactorial nature of human autoimmune disease.
Cho JH, Gregersen PK.
The New England journal of Medicine, 2011, 365(17):1612-23.

Improved risk prediction for Crohn’s disease with a multi-locus approach.
Kang J, Kugathasan S, Georges M, Zhao H, Cho JH; NIDDK IBD Genetics Consortium.
PLoS Genetics, 2011, 7(4):e1001353.


2010

Practical issues in building risk-predicting models for complex diseases.
Kang J, Cho J, Zhao H.
Journal of Biopharmaceutical Statistics, 2010, 20(2):415-40.


2009

Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
Silverberg MS, Cho JH, Rioux JD, McGovern DP, Wu J, Annese V, Achkar JP, Goyette P, Scott R, Xu W, Barmada MM, Klei L, Daly MJ, Abraham C, Bayless TM, Bossa F, Griffiths AM, Ippoliti AF, Lahaie RG, Latiano A, Paré P, Proctor DD, Regueiro MD, Steinhart AH, Targan SR, Schumm LP, Kistner EO, Lee AT, Gregersen PK, Rotter JI, Brant SR, Taylor KD, Roeder K, Duerr RH.
Nature Genetics, 2009, 41(6):762


2006

A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH.
Science, 2006, 314(5804):1461-3.


2001

A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease.
Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nuñez G, Cho JH.
Nature, 2001, 411(6837):603-6.

 

A complete list of Dr. Judy Cho’s publications can be found in Pubmed.