Evidence map›Paper›PMID 28796411›Full record

ReviewClinical and translational science2018

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Hugh J S Dawkins, Ruxandra Draghia-Akli, Paul Lasko, Lilian P L Lau, Anneliene H Jonker, Christine M Cutillo, Ana Rath, Kym M Boycott, Gareth Baynam, Hanns Lochmüller and 5 more

Abstract readHistorical ArticleReview
In one paragraph

Review in Clinical and translational science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
87citing papers in PubMed, 4 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

87 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Pooled it
  2. The Minimum Data Set for Rare Diseases: Systematic Review.Journal of medical Internet research · 2023
    Pooled it
  3. Pooled it
  4. Pooled it
  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Advances in Cell and Gene Therapy for Rare Disease Treatment.International journal of stem cells · 2025
    Review
  11. Review
  12. Article
  13. Article
  14. Review
  15. Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. Rare diseases: What rheumatologists need to know?Advances in rheumatology (London, England) · 2024
    Review

27 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

15 authors.

Hugh J S DawkinsOffice of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.
Ruxandra Draghia-AkliDirectorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).
Paul LaskoDepartment of Biology, McGill University, Montréal, Canada.
Lilian P L LauIRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.
Anneliene H JonkerIRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.
Christine M CutilloNational Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Ana RathIRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
Gareth BaynamGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
Hanns LochmüllerInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Petra KaufmannNational Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Yann Le CamEURORDIS-Rare Diseases Europe, Paris, France.
Virginie HivertEURORDIS-Rare Diseases Europe, Paris, France.
Christopher P AustinNational Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.
International Rare Diseases Research Consortium (IRDiRC)

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Intersectoral CollaborationAdvisory CommitteesClinical Trials as TopicGuidelines as TopicHistory, 21st CenturyHumansInternational CooperationPrevalenceRare DiseasesTranslational Research, Biomedical

Identifiers

PMID28796411
PMCPMC5759730

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.