Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

Abundant Pleiotropy in Human Complex Diseases and Traits

(2011) Shanya Sivakumaran et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome localization of complex disease association signals

(2011) Benjamin Lehne et al.   BMC GENOMICS

New IBD genetics: common pathways with other diseases

(2011) C. W. Lees et al.   GUT

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Genetics and pathogenesis of inflammatory bowel disease

(2011) Bernard Khor et al.   NATURE

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

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

(2011) Carl A Anderson et al.   NATURE GENETICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations

(2011) Sudhir Kumar et al.   TRENDS IN GENETICS

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Rare genetic variants and the risk of cancer

(2010) Walter Bodmer et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The effect of next-generation sequencing technology on complex trait research

(2010) Aaron G. Day-Williams et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Pediatric modification of the Montreal classification for inflammatory bowel disease

(2010) Arie Levine et al.   INFLAMMATORY BOWEL DISEASES

NOD2/CARD15 genotype, cardiovascular disease and cancer in 43 600 individuals from the general population

(2010) S. Yazdanyar et al.   JOURNAL OF INTERNAL MEDICINE

Multiple common variants for celiac disease influencing immune gene expression

(2010) Patrick C A Dubois et al.   NATURE GENETICS

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

(2010) Andre Franke et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Genetic Analysis in A Dutch Study Sample Identifies More Ulcerative Colitis Susceptibility Loci and Shows Their Additive Role in Disease Risk

(2009) Eleonora AM Festen et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Common variants at five new loci associated with early-onset inflammatory bowel disease

(2009) Marcin Imielinski et al.   NATURE GENETICS

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Antisense inhibition of ICAM-1 expression as therapy provides insight into basic inflammatory pathways through early experiences in IBD

(2008) Jessica R Philpott et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Epidemiology of inflammatory bowel disease in a German twin cohort: Results of a nationwide study

(2008) Martina E. Spehlmann et al.   INFLAMMATORY BOWEL DISEASES

Familial aggregation in Crohn's disease and ulcerative colitis in a Norwegian population-based cohort followed for ten years

(2008) May-Bente Bengtson et al.   Journal of Crohns & Colitis

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

(2008) Andre Franke et al.   NATURE GENETICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS