Evidence map›Paper›PMID 31546637›Full record

ArticleGenes2019

Identification of Two Independent

Anina Bauer, John F Bateman, Shireen R Lamandé, Eric Hanssen, Shannon G M Kirejczyk, Mark Yee, Ali Ramiche, Vidyha Jagannathan, Monika Welle, Tosso Leeb and 1 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.0field-weighted citation impact, top 13% 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, 21 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Novel HomozygousGenes · 2022
    Article
  8. AGenes · 2022
    Article
  9. IndependentGenes · 2022
    Article
  10. Factors associated with canine skin extensibility in toy poodles.The Journal of veterinary medical science · 2022
    Article
  11. Review
  12. A Heterozygous Missense Variant in theAnimals : an open access journal from MDPI · 2020
    Article
  13. Article
  14. 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

11 authors at 4 institutions in 4 countries.

Anina BauerInstitute of Genetics, University of Bern, 3012 Bern, Switzerland. anina.bauer@vetsuisse.unibe.ch.
John F BatemanMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia. john.bateman@mcri.edu.au.ORCID 0000-0001-8542-0730
Shireen R LamandéMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia. shireen.lamande@mcri.edu.au.
Eric HanssenDepartment of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3010, Australia. ehanssen@unimelb.edu.au.
Shannon G M KirejczykCollege of Veterinary Medicine, Department of Pathology, The University of Georgia, Athens, GA 30602, USA. skirejc@emory.edu.ORCID 0000-0002-5900-4239
Mark YeeTorquay Animal Hospital, Torquay, Victoria 3228, Australia. info@torquayvets.com.au.
Ali RamicheVeterinary Practice, Agadir 86603, Morocco. ali.ramiche@umontreal.ca.
Vidyha JagannathanInstitute of Genetics, University of Bern, 3012 Bern, Switzerland. vidhya.jagannathan@vetsuisse.unibe.ch.ORCID 0000-0002-8155-0041
Monika WelleDepartment of Biochemistry and Molecular Biology, University of Melbourne, Parkville, Victoria 3010, Australia. monika.welle@vetsuisse.unibe.ch.
Tosso LeebInstitute of Genetics, University of Bern, 3012 Bern, Switzerland. tosso.leeb@vetsuisse.unibe.ch.ORCID 0000-0003-0553-4880
Fiona L BatemanMurdoch Children's Research Institute, Parkville, Victoria 3052, Australia. fibatema@gmail.com.
University of Bern · CHThe University of Melbourne · AUUniversity of Georgia · USRégie Autonome Multi Services D'Agadir · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable disorders affecting connective tissues. The mutations causing the various forms of EDS in humans are well characterized, but the genetic mutations causing EDS-like clinical pathology in dogs are not known, thus hampering accurate clinical diagnosis. Clinical analysis of two independent cases of skin hyperextensibility and fragility, one with pronounced joint hypermobility was suggestive of EDS. Whole-genome sequencing revealed de novo mutations of

Indexed as

AnimalsCollagen Type VDog DiseasesDogsEhlers-Danlos SyndromeGenetic VariationMaleMicroscopy, Electron, TransmissionMutationSkinCollagen Type VCanis familiarisCollagenCutaneous astheniaDermatologyDogGenodermatosisPrecision medicineRare diseaseSkinWhole-genome sequencing

Identifiers

PMID31546637
PMCPMC6826881
OpenAlexW2974119165

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.