Selected publications last 5 years


Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora E, Bianco F, Cordeddu L, Bamshad M, Francescatto L, Dowless D, et al
Gastroenterology 2015 Apr;148(4):771-782.e11


Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
Ek W, Reznichenko A, Ripke S, Niesler B, Zucchelli M, Rivera N, et al
Gut 2015 Nov;64(11):1774-82

HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.
Heap G, Weedon M, Bewshea C, Singh A, Chen M, Satchwell J, et al
Nat. Genet. 2014 Oct;46(10):1131-4

NPSR1 polymorphisms influence recurrent abdominal pain in children: a population-based study.
Henström M, Zucchelli M, Söderhäll C, Bergström A, Kere J, Melén E, et al
Neurogastroenterol. Motil. 2014 Oct;26(10):1417-25

Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome.
Beyder A, Mazzone A, Strege P, Tester D, Saito Y, Bernard C, et al
Gastroenterology 2014 Jun;146(7):1659-68

Genetic variants in CDC42 and NXPH1 as susceptibility factors for constipation and diarrhoea predominant irritable bowel syndrome.
Wouters M, Lambrechts D, Knapp M, Cleynen I, Whorwell P, Agréus L, et al
Gut 2014 Jul;63(7):1103-11


Genes and functional GI disorders: from casual to causal relationship.
D'Amato M
Neurogastroenterol. Motil. 2013 Aug;25(8):638-49

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
Beaudoin M, Goyette P, Boucher G, Lo K, Rivas M, Stevens C, et al
PLoS Genet. 2013 ;9(9):e1003723

Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett's esophagus, and gastroesophageal reflux.
Ek W, Levine D, D'Amato M, Pedersen N, Magnusson P, Bresso F, et al
J. Natl. Cancer Inst. 2013 Nov;105(22):1711-8

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.
Ellinghaus D, Zhang H, Zeissig S, Lipinski S, Till A, Jiang T, et al
Gastroenterology 2013 Aug;145(2):339-47

The impact of Crohn's disease genes on healthy human gut microbiota: a pilot study.
Quince C, Lundin E, Andreasson A, Greco D, Rafter J, Talley N, et al
Gut 2013 Jun;62(6):952-4


Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Jostins L, Ripke S, Weersma R, Duerr R, McGovern D, Hui K, et al
Nature 2012 Nov;491(7422):119-24


Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas M, Beaudoin M, Gardet A, Stevens C, Sharma Y, Zhang C, et al
Nat. Genet. 2011 Oct;43(11):1066-73

Association of TNFSF15 polymorphism with irritable bowel syndrome.
Zucchelli M, Camilleri M, Andreasson A, Bresso F, Dlugosz A, Halfvarson J, et al
Gut 2011 Dec;60(12):1671-7

CD98 expression modulates intestinal homeostasis, inflammation, and colitis-associated cancer in mice.
Nguyen H, Dalmasso G, Torkvist L, Halfvarson J, Yan Y, Laroui H, et al
J. Clin. Invest. 2011 May;121(5):1733-47

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Anderson C, Boucher G, Lees C, Franke A, D'Amato M, Taylor K, et al
Nat. Genet. 2011 Mar;43(3):246-52


Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Franke A, McGovern D, Barrett J, Wang K, Radford-Smith G, Ahmad T, et al
Nat. Genet. 2010 Dec;42(12):1118-25

Detection of celiac disease and lymphocytic enteropathy by parallel serology and histopathology in a population-based study.
Walker M, Murray J, Ronkainen J, Aro P, Storskrubb T, D'Amato M, et al
Gastroenterology 2010 Jul;139(1):112-9

Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
McGovern D, Gardet A, Törkvist L, Goyette P, Essers J, Taylor K, et al
Nat. Genet. 2010 Apr;42(4):332-7

Neuropeptide S receptor induces neuropeptide expression and associates with intermediate phenotypes of functional gastrointestinal disorders.
Camilleri M, Carlson P, Zinsmeister A, McKinzie S, Busciglio I, Burton D, et al
Gastroenterology 2010 Jan;138(1):98-107.e4

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Gastrointestinal diseases