Evidence map›Paper›PMID 27766162›Full record

ArticleHuman genome variation2016

Maternal mosaicism for

Catherine Breen, Jean Mercer, Simon A Jones, Amir Jahic, Lesley Heptinstall, Karen Tylee, William G Newman, Christian Beetz

Open access · goldAbstract read
In one paragraph

Article in Human genome variation, 2016. 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
0.8field-weighted citation impact, top 25% 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, 9 citations in OpenAlex.

  1. Trial
  2. Article
  3. Review
  4. Article
  5. Mucopolysaccharidosis Type I.Diagnostics (Basel, Switzerland) · 2020
    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

8 authors at 2 institutions in 2 countries.

Catherine BreenManchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
Jean MercerManchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
Simon A JonesManchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
Amir JahicDepartment of Clinical Chemistry and Laboratory Medicine, Jena University Hospital , Jena, Germany.
Lesley HeptinstallManchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
Karen TyleeManchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
William G NewmanManchester Centre for Genomic Medicine, University of Manchester and Central Manchester Foundation Trust , Manchester, UK.
Christian BeetzDepartment of Clinical Chemistry and Laboratory Medicine, Jena University Hospital , Jena, Germany.ORCID 0000-0001-7061-2895
University of Manchester · GBJena University Hospital · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mucopolysaccharidosis I (MPS I) is a rare autosomal recessive multisystem lysosomal storage disorder. It is caused by biallelic loss-of-function variants in

Identifiers

PMID27766162
PMCPMC5052355
OpenAlexW2529112116

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.