Evidence map›Paper›PMID 28555434›Full record

ArticleJournal of community genetics2017

With expanded carrier screening, founder populations run the risk of being overlooked.

Inge B Mathijssen, Merel C van Maarle, Iris I M Kleiss, Egbert J W Redeker, Leo P Ten Kate, Lidewij Henneman, Hanne Meijers-Heijboer

Abstract read
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In one paragraph

Article in Journal of community genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Article
  6. Article
  7. Genomics for all in the 21st century?Journal of community genetics · 2017
    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

7 authors.

Inge B MathijssenDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. i.b.mathijssen@amc.uva.nl.
Merel C van MaarleDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Iris I M KleissDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Egbert J W RedekerDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Leo P Ten KateDepartment of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Lidewij HennemanDepartment of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Hanne Meijers-HeijboerDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

Funding

ZonMw 209040001
6 · The paper itself

Abstract

Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations are covered in the (preconception) expanded carrier screening tests of five carrier screening providers. Our results show that the great majority of founder mutations are not covered in these screening panels, and these panels may thus not be appropriate for use in founder populations. It is therefore important to be aware of founder mutations in a population when offering carrier tests.

Indexed as

Autosomal recessiveCarrier screeningCommunityFounder populationNetherlands

Identifiers

PMID28555434
PMCPMC5614881

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Registered trials

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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.