Complete List of Our Publications <click here>
SELECTED PUBLICATIONS (BY THEME)
Identification of IBD Susceptibility Loci & Genes
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility.Sazonovs A, et al. Nat Genet. 2022 Sep;54(9):1275-1283. PMID: 36038634
Fine-mapping inflammatory bowel disease loci to single-variant resolution. Huang H, et al. Nature. 2017 Jul 13;547(7662):173-178. PMID: 28658209
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Rivas MA, et al. Nat Commun. 2016 Aug 9;7:12342. PMID: 27503255
Inherited determinants of Crohn’s disease and ulcerative colitis phenotypes: a genetic association study. Cleynen I, et al. Lancet. 2016 Jan 9;387(10014):156-67. PMID: 26490195
High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis. Goyette P, et al. Nat Genet. 2015 Feb;47(2):172-9. PMID: 25559196
Functional Studies to Identify Causal Genes and Their Biological Impact
Prostaglandins and calprotectin are genetically and functionally linked to the Inflammatory Bowel Diseases. Karaky M, PLoS Genet. 2022 Sep 26;18(9):e1010189. eCollection 2022 Sep. PMID: 36155972
Epigenetic reader SP140 loss of function drives Crohn’s disease due to uncontrolled macrophage topoisomerases. Amatullah H, et al. Cell. 2022 Aug 18;185(17):3232-3247.e18. PMID: 35952671
IBD-associated G protein-coupled receptor 65 variant compromises signalling and impairs key functions involved in inflammation. Mercier V, et al. Cell Signal. 2022 May;93:110294. PMID: 35218908
Human enteric viruses autonomously shape inflammatory bowel disease phenotype through divergent innate immunomodulation. Adiliaghdam F, et al. Sci Immunol. 2022 Apr 8;7(70):eabn6660. PMID: 35394816
Functional screen of inflammatory bowel disease genes reveals key epithelial functions. Ntunzwenimana JC, et al. Genome Med. 2021 Nov 11;13(1):181. PMID: 34758847
C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions. Mohanan V, et al. Science. 2018 Mar 9;359(6380):1161-1166. PMID: 29420262
IL23R (Interleukin 23 Receptor) Variants Protective against Inflammatory Bowel Diseases (IBD) Display Loss of Function due to Impaired Protein Stability and Intracellular Trafficking. Sivanesan D, et al. J Biol Chem. 2016 Apr 15;291(16):8673-85. PMID: 26887945
Multi-omics in IBD: disease heterogeneity and clinical outcomes
A pilot study to identify blood-based markers associated with response to treatment with Vedolizumab in patients with Inflammatory Bowel Disease. Rioux JD, et al. medRxiv [Preprint]. 2024 Sep 22:2024.09.19.24314034. PMID: 39371119
Serum Lipidomic Screen Identifies Key Metabolites, Pathways, and Disease Classifiers in Crohn’s Disease. Ferru-Clément R, et al. Inflamm Bowel Dis. 2023 Jul 5;29(7):1024-1037. PMID: 36662167
A Role for CXCR3 Ligands as Biomarkers of Post-Operative Crohn’s Disease Recurrence. Walshe M, et al. J Crohns Colitis. 2022 Jul 14;16(6):900-910. PMID: 34698823
Serum Analyte Profiles Associated With Crohn’s Disease and Disease Location. Boucher G, et al. Inflamm Bowel Dis. 2022 Jan 5;28(1):9-20. PMID: 34106269
Defining Genetic Variation in the Human Genome
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. de Bakker PI, et al.Nat Genet. 2006 Oct;38(10):1166-72. PMID: 16998491
An integrated haplotype map of the human major histocompatibility complex. Walsh EC, et al. Am J Hum Genet. 2003 Sep;73(3):580-90. PMID: 12920676
High-resolution haplotype structure in the human genome. Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES. Nat Genet. 2001 Oct;29(2):229-32.PMID: 11586305
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Rioux JD, et al. Nat Genet. 2001 Oct;29(2):223-8. PMID: 11586304
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Wang DG, et al. Science. 1998 May 15;280(5366):1077-82. PMID: 9582121