Evidence map›Paper›PMID 40758541›Full record

ArticleAmerican journal of respiratory and critical care medicine2025

Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.

Lizi Briggs, Cátia Brandão, Andrew Fleming, Matthew Edwards, Steven Mueller, Sam Wilkinson, Andrew Rogers, Ellie Quinn, Ranjit Rai, Claire Hogg and 13 more

Abstract read
PubMed Publisher
In one paragraph

Article in American journal of respiratory and critical care medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

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

  1. Guideline
  2. Article
  3. Article
  4. Article
  5. Unrecognized ciliary motility disorders in neutrophilic severe asthma exacerbations.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026
    Article
  6. Noncoding DNA Variants in Primary Ciliary Dyskinesia: Another Piece of the Diagnostic Puzzle.American journal of respiratory and critical care medicine · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors.

Lizi BriggsClinical Genetics and Genomics Laboratory.ORCID 0009-0005-7067-3408
Cátia BrandãoClinical Genetics and Genomics Laboratory.ORCID 0000-0001-9127-7424
Andrew FlemingClinical Genetics and Genomics Laboratory.
Matthew EdwardsClinical Genetics and Genomics Laboratory.ORCID 0000-0002-8477-530X
Steven MuellerClinical Genetics and Genomics Laboratory.
Sam WilkinsonClinical Genetics and Genomics Laboratory.
Andrew RogersPrimary Ciliary Dyskinesia Diagnostic Service, and.
Ellie QuinnClinical Genetics, Royal Brompton Hospital, Heart and Lung Critical Care Group, Guy's and St. Thomas' National Health Service Foundation Trust, London, United Kingdom.ORCID 0000-0003-3648-6084
Ranjit RaiPrimary Ciliary Dyskinesia Diagnostic Service, and.ORCID 0000-0003-2034-3169
Claire HoggPrimary Ciliary Dyskinesia Diagnostic Service, and.ORCID 0000-0002-8368-5994
Matthieu BottierPrimary Ciliary Dyskinesia Diagnostic Service, and.ORCID 0000-0002-3148-6491
Tom BurgoynePrimary Ciliary Dyskinesia Diagnostic Service, and.ORCID 0000-0002-8428-720X
Siobhan CarrPrimary Ciliary Dyskinesia Diagnostic Service, and.ORCID 0000-0003-0580-2478
Laura GardnerPrimary Ciliary Dyskinesia Diagnostic Service, and.
Andrew JonesHost Defence Unit, Department of Respiratory Medicine, Heart and Lung Critical Care Group, Guy's and St. Thomas' National Health Service Foundation Trust, London, United Kingdom.
Michael LoebingerNational Heart and Lung Institute, Imperial College London, London, United Kingdom.
Hannah M MitchisonGenetics and Genomic Medicine Department, University College London, Great Ormond Street Institute of Child Health, London, United Kingdom.ORCID 0000-0002-3163-6293
Ricardo JoseHost Defence Unit, Department of Respiratory Medicine, Heart and Lung Critical Care Group, Guy's and St. Thomas' National Health Service Foundation Trust, London, United Kingdom.
Anand ShahHost Defence Unit, Department of Respiratory Medicine, Heart and Lung Critical Care Group, Guy's and St. Thomas' National Health Service Foundation Trust, London, United Kingdom.ORCID 0000-0001-5257-520X
Amelia ShoemarkPrimary Ciliary Dyskinesia Diagnostic Service, and.ORCID 0000-0001-7360-6060
Amy SlaterClinical Genetics and Genomics Laboratory.ORCID 0000-0002-8387-5683
Shibu JohnClinical Genetics and Genomics Laboratory.ORCID 0009-0000-8905-749X
Deborah J Morris-RosendahlClinical Genetics and Genomics Laboratory.ORCID 0000-0002-7780-4707

Funding

BEATPCD COST ACTION BM 1407Royal Brompton and Harefield Hospitals Charity BEATPCD: COST Action BM 1407
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Ciliary Motility DisordersGenetic TestingGenetic VariationKartagener SyndromeAdolescentAdultChildChild, PreschoolFemaleHigh-Throughput Nucleotide SequencingHumansInfantMaleMiddle AgedRetrospective StudiesYoung Adultciliopathygenetic testingnoncoding genomeprimary ciliary dyskinesia

Identifiers

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.