Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
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.
Front Immunol. 2018 Aug 10;9:1784.
Consequences of Identifying XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease.
Gastroenterology. 2018 Jul;155(1):231-234.
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
PLoS Genet. 2018 May 24;14(5):e1007329.
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
Mucosal Immunol. 2018 Mar;11(2):562-574.
Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.
Gut. 2018 Aug;67(8):1517-1524.
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.
Nature genetics 2017;49;2;186-192
Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
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.
Nature genetics 2017;49;2;269-273
Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease.
Nature genetics 2017;49;2:262-268
Class II HLA interactions modulate genetic risk for multiple sclerosis.
Nature genetics 2015;47;10;1107-13
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Nature genetics 2015;47;9;979-986
Genetics in PSC: what do the "risk genes" teach us?
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.
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.
Nature genetics 2015;47;2;172-9
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
Nature communications 2015;6;8019
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
Nature genetics 2013;45;11;1353-60
Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway.
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
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.
PLoS genetics 2013;9;9;e1003723
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
Nature genetics 2012;44;10;1137-41
optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants.
Bioinformatics (Oxford, England) 2012;28;12;1598-603
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Nature genetics 2011;43;4;329-32
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Nature genetics 2011;43;3;246-52
Synthetic associations are unlikely to account for many common disease genome-wide association signals.
PLoS biology 2011;9;1;e1000580
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
Nature genetics 2011;43;1;51-4
Data quality control in genetic case-control association studies.
Nature protocols 2010;5;9;1564-73
Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.
Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms.
American journal of human genetics 2008;83;1;112-9