Evidence map›Paper›PMID 31824402›Full record

ArticleFrontiers in neurology2019

Novel Pathogenic Variants in a Cassette Exon of

Christiane D Much, Konrad Schwefel, Dariush Skowronek, Loay Shoubash, Felix von Podewils, Miriam Elbracht, Stefanie Spiegler, Ingo Kurth, Agnes Flöel, Henry W S Schroeder and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2019. 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
1.6field-weighted citation impact, top 17% 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

5 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Biochemistry and biophysics reports · 2022
    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

12 authors at 3 institutions in 1 country.

Christiane D MuchDepartment of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Konrad SchwefelDepartment of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Dariush SkowronekDepartment of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Loay ShoubashDepartment of Neurosurgery, University Medicine Greifswald, Greifswald, Germany.
Felix von PodewilsDepartment of Neurology, University Medicine Greifswald, Greifswald, Germany.
Miriam ElbrachtInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Stefanie SpieglerDepartment of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Ingo KurthInstitute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Agnes FlöelDepartment of Neurology, University Medicine Greifswald, Greifswald, Germany.
Henry W S SchroederDepartment of Neurosurgery, University Medicine Greifswald, Greifswald, Germany.
Ute FelborDepartment of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Matthias RathDepartment of Human Genetics, University Medicine Greifswald and Interfaculty Institute for Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
Universitätsmedizin Greifswald · DEUniversität Greifswald · DERWTH Aachen University · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic variants in either

Indexed as

CCM2 transcript analysescerebral cavernous malformationscerebral hemorrhageCNV analysesnovel CCM2 mutationsseizures

Identifiers

PMID31824402
PMCPMC6879547
OpenAlexW2989700010

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.