Evidence map›Paper›PMID 40225144›Full record

ArticleHuman mutation2023

A Novel

Janin Klein, Aldrige B Allister, Gunnar Schmidt, Annette Otto, Kai Heinecke, Jördis Bax-Knoche, Carmela Beger, Sarah Becker, Stephan Bartels, Tim Ripperger and 5 more

Abstract read
In one paragraph

Article in Human mutation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
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.

Janin KleinDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Aldrige B AllisterDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Gunnar SchmidtDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Annette OttoDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Kai HeineckeMVZ Labor Krone GbR, Bad Salzuflen, Bielefeld, Germany.
Jördis Bax-KnocheMVZ Labor Krone GbR, Bad Salzuflen, Bielefeld, Germany.
Carmela BegerMVZ Labor Krone GbR, Bad Salzuflen, Bielefeld, Germany.
Sarah BeckerMVZ Labor Krone GbR, Bad Salzuflen, Bielefeld, Germany.
Stephan BartelsDepartment of Pathology, Hannover Medical School, Hannover, Germany.
Tim RippergerDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.ORCID 0000-0001-6470-8612
Jens BohneDepartment of Virology, Hannover Medical School, Hannover, Germany.
Thilo DörkDepartment of Gynaecology and Obstetrics, Hannover Medical School, Hannover, Germany.ORCID 0000-0002-9458-0282
Brigitte SchlegelbergerDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.
Winfried HofmannDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.ORCID 0000-0001-6658-3366
Doris SteinemannDepartment of Human Genetics, Hannover Medical School, Hannover, Germany.ORCID 0000-0001-8797-0816

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The vast majority of patients at risk of hereditary breast and/or ovarian cancer (HBOC) syndrome remain without a molecular diagnosis after routine genetic testing. One type of genomic alteration that is commonly missed by diagnostic pipelines is mobile element insertions (MEIs). Here, we reanalyzed multigene panel data from suspected HBOC patients using the MEI detection tool

Indexed as

Alu ElementsAtaxia Telangiectasia Mutated ProteinsExonsHereditary Breast and Ovarian Cancer SyndromeMutagenesis, InsertionalFemaleGenetic Predisposition to DiseaseHEK293 CellsHumansIntronsMCF-7 CellsRNA SplicingAtaxia Telangiectasia Mutated ProteinsATM protein, human

Identifiers

PMID40225144
PMCPMC11919196

What OpenQuestion holds

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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.