Evidence map›Paper›PMID 32295219›Full record

ArticleGenes2020

The Connective Tissue Disorder Associated with Recessive Variants in the

Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, Carlo Marcelis, Marius Kraenzlin, Nicole Fleischer, Sheila Unger, Andrea Superti-Furga

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.6field-weighted citation impact, top 16% 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

10 citing papers in PubMed, 17 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Keratoconus.Nature reviews. Disease primers · 2024
    Article
  5. Article
  6. Systemic Associations with Keratoconus.Life (Basel, Switzerland) · 2023
    Review
  7. Article
  8. Review
  9. Review
  10. 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

8 authors at 3 institutions in 2 countries.

Camille KumpsDivision of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
Belinda Campos-XavierDivision of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
Yvonne Hilhorst-HofsteeDepartment of Clinical Genetics, Leiden University Medical Centre, 2333 ZA Leiden, The Netherlands.
Carlo MarcelisDepartment of Human Genetics, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, The Netherlands.
Marius KraenzlinClinic for Endocrinology, Diabetes & Metabolism, University Hospital Basel, 4031 Basel, Switzerland.
Nicole FleischerFDNA Inc., Boston, MA 02111, USA.
Sheila UngerDivision of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
Andrea Superti-FurgaDivision of Genetic Medicine, Lausanne University Hospital (CHUV), 1011 Lausanne, Switzerland.
Leiden University · NLRadboud University Nijmegen · NLUniversity Hospital of Basel · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recessive loss-of-function variants in

Indexed as

MutationAdolescentAdultCase-Control StudiesCation Transport ProteinsChildEhlers-Danlos SyndromeFemaleFollow-Up StudiesHumansMaleOsteochondrodysplasiasPrognosisYoung AdultCation Transport ProteinsSLC39A13 protein, humanconnective tissueDeepGestalt technologydysmorphologyEhlers–Danlos syndromeshort statureSLC39A13

Identifiers

PMID32295219
PMCPMC7231014
OpenAlexW3017221968

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.