• Publications
  • Influence
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
H Rob Taal, Beate St Pourcain, Elisabeth Thiering, Shikta Das, Dennis O Mook-Kanamori, Nicole M Warrington, Marika Kaakinen, Eskil Kreiner-Møller, Jonathan P Bradfield, Rachel M Freathy, FrankExpand
  • 473
  • 42
  • Open Access
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21
Much of the variation in inherited risk of colorectal cancer (CRC) is probably due to combinations of common low risk variants. We conducted a genome-wide association study of 550,000 tag SNPs in 930Expand
  • 783
  • 34
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
To identify risk variants for colorectal cancer (CRC), we conducted a genome-wide association study, genotyping 550,163 tag SNPs in 940 individuals with familial colorectal tumor (627 CRC, 313Expand
  • 489
  • 26
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.
Generalized pustular psoriasis (GPP) is a rare and yet potentially lethal clinical variant of psoriasis, characterized by the formation of sterile cutaneous pustules, neutrophilia, fever and featuresExpand
  • 316
  • 21
Genomic atlas of the human plasma proteome
Although plasma proteins have important roles in biological processes and are the direct targets of many drugs, the genetic factors that control inter-individual variation in plasma protein levelsExpand
  • 261
  • 21
  • Open Access
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
Genome-wide association (GWA) studies have identified multiple loci at which common variants modestly influence the risk of developing colorectal cancer (CRC). To enhance power to identify additionalExpand
  • 547
  • 18
  • Open Access
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal tumor cases (627 CRC, 313Expand
  • 533
  • 14
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
Genome-wide association studies (GWAS) have identified ten loci harboring common variants that influence risk of developing colorectal cancer (CRC). To enhance the power to identify additional CRCExpand
  • 347
  • 14
  • Open Access
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and theExpand
  • 294
  • 14
Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. Using whole-genomeExpand
  • 261
  • 8
  • Open Access