(Q36939427)

17 August 2017

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

1 reference

inflammatory bowel diseases

17 August 2017

0 references

Katja Christodoulou

1

0 references

Michael Simpson

Michael A Simpson

9

0 references

Andrew Collins

Andrew Collins

11

0 references

John W. Holloway

John W Holloway

8

0 references

Rosanna Upstill-Goddard

7

Rosanna Upstill-Goddard

1 reference

17 August 2017

Anthony E Wiskin

2

1 reference

17 August 2017

Jane Gibson

3

1 reference

17 August 2017

William Tapper

4

1 reference

17 August 2017

Claire Willis

5

1 reference

17 August 2017

Nadeem A Afzal

6

1 reference

17 August 2017

R Mark Beattie

10

1 reference

17 August 2017

Sarah Ennis

12

1 reference

17 August 2017

language of work or name

English

0 references

publication date

28 April 2012

1 reference

17 August 2017

1 reference

17 August 2017

62

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17 August 2017

7

1 reference

17 August 2017

977-984

1 reference

Abundant pleiotropy in human complex diseases and traits.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Unlocking Mendelian disease using exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

What can exome sequencing do for you?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Genetics and pathogenesis of inflammatory bowel disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

New IBD genetics: common pathways with other diseases.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Exome localization of complex disease association signals.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Rare genetic variants and the risk of cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Multiple common variants for celiac disease influencing immune gene expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

BEDTools: a flexible suite of utilities for comparing genomic features

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

The Sequence Alignment/Map format and SAMtools

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Common and rare variants in multifactorial susceptibility to common diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Pediatric inflammatory bowel disease: clinical and molecular genetics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

The NOD2-RICK complex signals from the plasma membrane.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

The predicted impact of coding single nucleotide polymorphisms database

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Risk of haematopoietic cancer in patients with inflammatory bowel disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

SIFT: Predicting amino acid changes that affect protein function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Amino acid difference formula to help explain protein evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Inflammatory bowel disease in children and adolescents: recommendations for diagnosis--the Porto criteria

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3686259

Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications

20 October 2018

2 references

Crossref

https://api.crossref.org/works/10.1136%2FGUTJNL-2011-301833

21 January 2018

12 December 2020

Association of a CXCL9 polymorphism with pediatric Crohn's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Prospective survey of childhood inflammatory bowel disease in the British Isles

1 reference

12 December 2020

Association of interleukin-8 receptor α polymorphisms with chronic obstructive pulmonary disease and asthma

1 reference

12 December 2020

10.1136/GUTJNL-2011-301833

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

22543157

1 reference