Evidence map›Paper›PMID 26955491›Full record

ArticleCase reports in genetics2016

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.

Jennifer Carter, Melinda Zombor, Adrienn Máté, László Sztriha, Jonathan J Waters

Open access · goldAbstract read
In one paragraph

Article in Case reports in genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 23% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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

5 authors at 2 institutions in 2 countries.

Jennifer CarterNE Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Barclay House Levels 5&6, 37 Queen Square, London WC1N 3BG, UK.
Melinda ZomborDivision B, Department of Paediatrics, University of Szeged, Temesvári Körút 35-37, Szeged 6726, Hungary.
Adrienn MátéDivision B, Department of Paediatrics, University of Szeged, Temesvári Körút 35-37, Szeged 6726, Hungary.
László SztrihaDivision B, Department of Paediatrics, University of Szeged, Temesvári Körút 35-37, Szeged 6726, Hungary.
Jonathan J WatersNE Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Barclay House Levels 5&6, 37 Queen Square, London WC1N 3BG, UK.
University of Szeged · HUUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development. This is consistent with previously reported duplications of this region in patients with a similar phenotype.

Identifiers

PMID26955491
PMCPMC4756132
OpenAlexW2262918340

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.