Evidence map›Paper›PMID 34782440›Full record

ArticleJournal of medical genetics2022

Variable skeletal phenotypes associated with biallelic variants in

Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi, Alistair D Calder, Ehsan G Karimiani, Mohammad Doosti, Andrew Wainwright, Paul Wordsworth and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–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

5 citing papers in PubMed.

  1. Article
  2. Case Report: Dual pathogenic mechanism of aFrontiers in genetics · 2025
    Article
  3. Article
  4. Article
  5. Article
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

19 authors.

Alistair T PagnamentaNIHR Biomedical Research Centre, Oxford, Oxfordshire, UK.ORCID 0000-0001-7334-0602
Francisca Diaz-GonzalezINGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0003-1364-7586
Benito Banos-PineroOxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.
Matteo P FerlaNIHR Biomedical Research Centre, Oxford, Oxfordshire, UK.
Mehran B ToosiDepartment of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Alistair D CalderRadiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Ehsan G KarimianiGenetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University of London, London, UK.
Mohammad DoostiNext Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran.
Andrew WainwrightDepartment of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Paul WordsworthNIHR Biomedical Research Centre, Oxford, Oxfordshire, UK.
Kathryn BaileyDepartment of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Katarina EjeskärSchool of Health Sciences, Translational Medicine, University of Skövde, Skövde, Sweden.
Tracy LesterOxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.
Reza MaroofianDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, UCL, London, UK.
Karen E HeathINGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0002-5816-7044
Homa TajsharghiSchool of Health Sciences, Translational Medicine, University of Skövde, Skövde, Sweden.
Deborah ShearsOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK debbie.shears@ouh.nhs.uk jenny@well.ox.ac.uk.
Jenny C TaylorNIHR Biomedical Research Centre, Oxford, Oxfordshire, UK debbie.shears@ouh.nhs.uk jenny@well.ox.ac.uk.
Genomics England Research Consortium

Funding

Medical Research Council MR/S006753/1Medical Research Council MR/W01761X/1Wellcome TrustWellcome Trust 203141/Z/16/Z
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AllelesCyclic GMP-Dependent Protein Kinase Type IIBone and BonesHumansMutationPhenotypeCyclic GMP-Dependent Protein Kinase Type IIPRKG2 protein, humancodonframeshift mutationgenomicsmusculoskeletal diseasesnonsensephenotype

Identifiers

PMID34782440
PMCPMC9554069

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.