Evidence map›Paper›PMID 25404111›Full record

ReviewNature reviews. Genetics2015

Cystic fibrosis genetics: from molecular understanding to clinical application.

Garry R Cutting

Abstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 516 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
516citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

516 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. CRISPR for cystic fibrosis: Advances and insights from a systematic review.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Pooled it
  2. Article
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  7. Molecular therapy. Nucleic acids · 2026
    Article
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456 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author.

Garry R CuttingMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 North Broadway, MRB 559, Baltimore, Maryland 21205, USA.

Funding

MOLECULAR GENETICS OF CYSTIC FIBROSISR01DK044003 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI Garry R Cutting · 1991 to 2026
$6.7M
NIDDK NIH HHS 5R01DK044003NIDDK NIH HHS R01 DK044003
6 · The paper itself

Abstract

The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene.

Indexed as

Genetic VariationModels, BiologicalPhenotypeCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenetics, MedicalGenetic TherapyHumansMolecular Diagnostic TechniquesCFTR protein, humanCystic Fibrosis Transmembrane Conductance Regulator

Identifiers

PMID25404111
PMCPMC4364438

What OpenQuestion holds

Textmetadata
LicenceTDM
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.