Evidence map›Paper›PMID 37736297›Full record

ArticleCase reports in genetics2023

An Atypical 15q11.2 Microdeletion Not Involving

Molly M Crenshaw, Sharon L Graw, Dobromir Slavov, Theresa A Boyle, Daniel G Piqué, Matthew Taylor, Peter Baker

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

Article in Case reports in genetics, 2023. 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 15% 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, 5 citations in OpenAlex.

  1. Article
  2. Article
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  4. RNAi Knockdown ofGenes · 2024
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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 at 3 institutions in 1 country.

Molly M CrenshawUniversity of Colorado School of Medicine (CU-SOM), Department of Pediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA.ORCID https://orcid.org/0000-0002-0915-6154
Sharon L GrawColorado Genetics Laboratory, Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Dobromir SlavovDivision of Cardiology, Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Theresa A BoyleDepartment of Pathology, Stanford University, Palo Alto, California, USA.
Daniel G PiquéUniversity of Colorado School of Medicine (CU-SOM), Department of Pediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA.
Matthew TaylorAdult Medical Genetics Program, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.ORCID https://orcid.org/0000-0001-9043-0810
Peter BakerUniversity of Colorado School of Medicine (CU-SOM), Department of Pediatrics, Section of Genetics and Metabolism, Aurora, Colorado, USA.ORCID https://orcid.org/0000-0002-9170-9618
University of Colorado Anschutz Medical Campus · USUniversity of Colorado Denver · USPalo Alto University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Loss of expression of paternally imprinted genes in the 15q11.2-q13 chromosomal region leads to the neurodevelopmental disorder Prader-Willi Syndrome (PWS). The PWS critical region contains four paternally expressed protein-coding genes along with small nucleolar RNA (snoRNA) genes under the control of the

Identifiers

PMID37736297
PMCPMC10511293
OpenAlexW4386698499

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.