Publications

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.

Cangul H, Liao XH, Schoenmakers E, Kero J, et al.,
JCI Insight. 2018 Oct 18;3(20).

Combined Influence of B-Cell Receptor Rearrangement and Somatic Hypermutation on B-Cell Class-Switch Fate in Health and in Chronic Lymphocytic Leukemia.

Petrova VN, Muir L, McKay PF, Vassiliou GS, et al.,
Front Immunol. 2018 Aug 10;9:1784.

Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease.

Quaranta M, Wilson R, Gonçalves Serra E, Pandey S, et al.,
Gastroenterology. 2018 Jul;155(1):231-234.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Rivas MA, Avila BE, Koskela J, Huang H, et al.,
PLoS Genet. 2018 May 24;14(5):e1007329.

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.

Schwerd T, Bryant RV, Pandey S, Capitani M, et al.,
Mucosal Immunol. 2018 Mar;11(2):562-574.

Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.

Alberts R, de Vries EMG, Goode EC, Jiang X, et al.,
Gut. 2018 Aug;67(8):1517-1524.

Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Huang H, Fang M, Jostins L, Umićević Mirkov M, Boucher G et al.
Nature 2017;547;7662;173-178

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

Luo Y, de Lange KM, Jostins L, Moutsianas L, Randall J et al.
Nature genetics 2017;49;2;186-192

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

de Lange KM, Moutsianas L, Lee JC, Lamb CA, Luo Y et al.
Nature genetics 2017;49;2;256-261

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

Ji SG, Juran BD, Mucha S, Folseraas T, Jostins L et al.
Nature genetics 2017;49;2;269-273

Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease.

Lee JC, Biasci D, Roberts R, Gearry RB, Mansfield JC et al.
Nature genetics 2017;49;2:262-268

A reference panel of 64,976 haplotypes for genotype imputation.

McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR et al.
Nature genetics 2016;48;10;1279-83

Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ.

Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I et al.
The Journal of clinical endocrinology and metabolism 2016;jc20161879

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

Rivas MA, Graham D, Sulem P, Stevens C, Desch AN et al.
Nature communications 2016;7;12342

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.

Saadati HR, Wittig M, Helbig I, Häsler R, Anderson CA et al.
BMC medical genetics 2016;17;26

Class II HLA interactions modulate genetic risk for multiple sclerosis.

Moutsianas L, Jostins L, Beecham AH, Dilthey AT, Xifara DK et al.
Nature genetics 2015;47;10;1107-13

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

Liu JZ, van Sommeren S, Huang H, Ng SC, Alberts R et al.
Nature genetics 2015;47;9;979-986

Genetics in PSC: what do the "risk genes" teach us?

Folseraas T, Liaskou E, Anderson CA and Karlsen TH
Clinical reviews in allergy & immunology 2015;48;2-3;154-64

Generation of primary human intestinal T cell transcriptomes reveals differential expression at genetic risk loci for immune-mediated disease.

Raine T, Liu JZ, Anderson CA, Parkes M and Kaser A
Gut 2015;64;2;250-9

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, Boucher G, Mallon D, Ellinghaus E, Jostins L et al.
Nature genetics 2015;47;2;172-9

International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

Cordell HJ, Han Y, Mells GF, Li Y, Hirschfield GM et al.
Nature communications 2015;6;8019

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L et al.
American journal of human genetics 2014;94;6;915-23

Genetic studies of Crohn's disease: past, present and future.

Liu JZ and Anderson CA
Best practice & research. Clinical gastroenterology 2014;28;3;373-86

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A et al.
American journal of human genetics 2014;94;2;295-302

Host genetic variants and gene expression patterns associated with Epstein-Barr virus copy number in lymphoblastoid cell lines.

Houldcroft CJ, Petrova V, Liu JZ, Frampton D, Anderson CA et al.
PloS one 2014;9;10;e108384

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF et al.
Nature genetics 2013;45;11;1353-60

Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway.

Lee JC, Espéli M, Anderson CA, Linterman MA, Pocock JM et al.
Cell 2013;155;1;57-69

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Liu JZ, Hov JR, Folseraas T, Ellinghaus E, Rushbrook SM et al.
Nature genetics 2013;45;6;670-5

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 KS, Rivas MA et al.
PLoS genetics 2013;9;9;e1003723

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP et al.
Nature 2012;491;7422;119-24

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

Liu JZ, Almarri MA, Gaffney DJ, Mells GF, Jostins L et al.
Nature genetics 2012;44;10;1137-41

optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants.

Shah TS, Liu JZ, Floyd JA, Morris JA, Wirth N et al.
Bioinformatics (Oxford, England) 2012;28;12;1598-603

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

Mells GF, Floyd JA, Morley KI, Cordell HJ, Franklin CS et al.
Nature genetics 2011;43;4;329-32

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M et al.
Nature genetics 2011;43;3;246-52

Synthetic associations are unlikely to account for many common disease genome-wide association signals.

Anderson CA, Soranzo N, Zeggini E and Barrett JC
PLoS biology 2011;9;1;e1000580

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

Painter JN, Anderson CA, Nyholt DR, Macgregor S, Lin J et al.
Nature genetics 2011;43;1;51-4

Data quality control in genetic case-control association studies.

Anderson CA, Pettersson FH, Clarke GM, Cardon LR, Morris AP and Zondervan KT
Nature protocols 2010;5;9;1564-73

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.

Anderson CA, Massey DC, Barrett JC, Prescott NJ, Tremelling M et al.
Gastroenterology 2009;136;2;523-9.e3

Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms.

Anderson CA, Pettersson FH, Barrett JC, Zhuang JJ, Ragoussis J et al.
American journal of human genetics 2008;83;1;112-9