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Exome sequencing in a family segregating for celiac disease.
Szperl AM, Ricaño-Ponce I, Li JK, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra HJ, Trynka G, Mulder CJ, Swertz M, Wijmenga C, Zheng HC. Szperl AM, et al. Clin Genet. 2011 Aug;80(2):138-47. doi: 10.1111/j.1399-0004.2011.01714.x. Epub 2011 Jun 21. Clin Genet. 2011. PMID: 21627641
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.
Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, Duerr RH, Edkins S, Franke L, Fransen K, Gutierrez J, Heap GA, Hrdlickova B, Hunt S, Plaza Izurieta L, Izzo V, Joosten LA, Langford C, Mazzilli MC, Mein CA, Midah V, Mitrovic M, Mora B, Morelli M, Nutland S, Núñez C, Onengut-Gumuscu S, Pearce K, Platteel M, Polanco I, Potter S, Ribes-Koninckx C, Ricaño-Ponce I, Rich SS, Rybak A, Santiago JL, Senapati S, Sood A, Szajewska H, Troncone R, Varadé J, Wallace C, Wolters VM, Zhernakova A; Spanish Consortium on the Genetics of Coeliac Disease (CEGEC); PreventCD Study Group; Wellcome Trust Case Control Consortium (WTCCC); Thelma BK, Cukrowska B, Urcelay E, Bilbao JR, Mearin ML, Barisani D, Barrett JC, Plagnol V, Deloukas P, Wijmenga C, van Heel DA. Trynka G, et al. Nat Genet. 2011 Nov 6;43(12):1193-201. doi: 10.1038/ng.998. Nat Genet. 2011. PMID: 22057235 Free PMC article.
Mapping of immune-mediated disease genes.
Ricaño-Ponce I, Wijmenga C. Ricaño-Ponce I, et al. Annu Rev Genomics Hum Genet. 2013;14:325-53. doi: 10.1146/annurev-genom-091212-153450. Epub 2013 Jul 3. Annu Rev Genomics Hum Genet. 2013. PMID: 23834318 Review.
Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant.
Almeida R, Ricaño-Ponce I, Kumar V, Deelen P, Szperl A, Trynka G, Gutierrez-Achury J, Kanterakis A, Westra HJ, Franke L, Swertz MA, Platteel M, Bilbao JR, Barisani D, Greco L, Mearin L, Wolters VM, Mulder C, Mazzilli MC, Sood A, Cukrowska B, Núñez C, Pratesi R, Withoff S, Wijmenga C. Almeida R, et al. Hum Mol Genet. 2014 May 1;23(9):2481-9. doi: 10.1093/hmg/ddt619. Epub 2013 Dec 11. Hum Mol Genet. 2014. PMID: 24334606 Free PMC article.
Systematic annotation of celiac disease loci refines pathological pathways and suggests a genetic explanation for increased interferon-gamma levels.
Kumar V, Gutierrez-Achury J, Kanduri K, Almeida R, Hrdlickova B, Zhernakova DV, Westra HJ, Karjalainen J, Ricaño-Ponce I, Li Y, Stachurska A, Tigchelaar EF, Abdulahad WH, Lähdesmäki H, Hofker MH, Zhernakova A, Franke L, Lahesmaa R, Wijmenga C, Withoff S. Kumar V, et al. Hum Mol Genet. 2015 Jan 15;24(2):397-409. doi: 10.1093/hmg/ddu453. Epub 2014 Sep 4. Hum Mol Genet. 2015. PMID: 25190711
Genetics of celiac disease.
Ricaño-Ponce I, Wijmenga C, Gutierrez-Achury J. Ricaño-Ponce I, et al. Best Pract Res Clin Gastroenterol. 2015 Jun;29(3):399-412. doi: 10.1016/j.bpg.2015.04.004. Epub 2015 May 8. Best Pract Res Clin Gastroenterol. 2015. PMID: 26060105 Review.
Contrasting the Genetic Background of Type 1 Diabetes and Celiac Disease Autoimmunity.
Gutierrez-Achury J, Romanos J, Bakker SF, Kumar V, de Haas EC, Trynka G, Ricaño-Ponce I, Steck A; Type 1 Diabetes Genetics Consortium; Chen WM, Onengut-Gumuscu S, Simsek S; Diabeter; Rewers M, Mulder CJ, Liu E, Rich SS, Wijmenga C. Gutierrez-Achury J, et al. Diabetes Care. 2015 Oct;38 Suppl 2(Suppl 2):S37-44. doi: 10.2337/dcs15-2007. Diabetes Care. 2015. PMID: 26405070 Free PMC article.
36 results