Evidence map›Paper›PMID 31602191›Full record

ArticleMolecular syndromology2019

Novel

Joohyun Park, Roberto Colombo, Karin Schäferhoff, Luigi Janiri, Mona Grimmel, Marc Sturm, Ute Grasshoff, Andreas Dufke, Tobias B Haack, Martin Kehrer

Open access · bronzeAbstract read
In one paragraph

Article in Molecular syndromology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.9field-weighted citation impact, top 22% 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

8 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Parental gonadossomatic mosaicism inFrontiers in genetics · 2023
    Article
  5. Expanding the Phenotypic Spectrum ofMolecular syndromology · 2022
    Article
  6. Article
  7. Neurodevelopmental profile of HIVEP2-related disorder.Developmental medicine and child neurology · 2022
    Article
  8. 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

10 authors at 4 institutions in 3 countries.

Joohyun ParkInstitute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Roberto ColomboInstitute of Clinical Biochemistry, Faculty of Medicine, Catholic University, Rome, Italy.
Karin SchäferhoffInstitute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Luigi JaniriInstitute of Psychiatry and Psychology, Faculty of Medicine, Catholic University, Rome, Italy.
Mona GrimmelInstitute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Marc SturmInstitute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Ute GrasshoffInstitute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Andreas DufkeInstitute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Martin KehrerInstitute of Medical Genetics and Applied Genomics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
University of Tübingen · DECatholic University of America · USHertie Institute for Clinical Brain Research · DEUniversità Cattolica del Sacro Cuore · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intellectual disability (ID) occurs in approximately 1% of the population. Over the last years, broad sequencing approaches such as whole exome sequencing (WES) substantially contributed to the definition of the molecular defects underlying nonsyndromic ID. Pathogenic variants in

Indexed as

Exome sequencingHIVEP2Intellectual disabilityMRD43

Identifiers

PMID31602191
PMCPMC6738162
OpenAlexW2931211204

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.