Evidence map›Paper›PMID 35761107›Full record

ReviewHuman genetics2023

Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.

Aline Azabdaftari, Kelsey D J Jones, Jochen Kammermeier, Holm H Uhlig

Abstract readReview
PubMed Publisher
In one paragraph

Review in Human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 2 pooled it
1.1field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 16 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Article
  6. Review
  7. Selenium: A Key Element in Inflammatory Bowel Disease.Antioxidants (Basel, Switzerland) · 2025
    Review
  8. Monogenic inflammatory bowel disease: An unfolding enigma.World journal of clinical pediatrics · 2025
    Review
  9. Review
  10. Article
  11. Article
  12. Review
  13. Article
  14. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 1 country.

Aline AzabdaftariTranslational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Kelsey D J JonesThe Kennedy Institute of Rheumatology, University of Oxford, Oxford, UK.
Jochen KammermeierGastroenterology Department, Evelina London Children's Hospital, London, UK.
Holm H UhligTranslational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK. holm.uhlig@ndm.ox.ac.uk.
University of Oxford · GBEvelina London Children's Healthcare · GBJohn Radcliffe Hospital · GB

Funding

Medical Research Council MR/R008019/1
6 · The paper itself

Abstract

Over 100 genes are associated with monogenic forms of inflammatory bowel disease (IBD). These genes affect the epithelial barrier function, innate and adaptive immunity in the intestine, and immune tolerance. We provide an overview of newly discovered monogenic IBD genes and illustrate how a recently proposed taxonomy model can integrate phenotypes and shared pathways. We discuss how functional understanding of genetic disorders and clinical genomics supports personalised medicine for patients with monogenic IBD.

Indexed as

Inflammatory Bowel DiseasesPrecision MedicineGenetic Predisposition to DiseaseHumansIntestinesPhenotype

Identifiers

PMID35761107
OpenAlexW4283641212

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.