Evidence map›Paper›PMID 32382505›Full record

ArticleMolecular genetics and metabolism reports2020

Whole genome investigation of an atypical autism case identifies a novel

Paul A Dawson, Soohyun Lee, Adam D Ewing, Johannes B Prins, Helen S Heussler

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

Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 51% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Disorders of puberty and neurodevelopment: A shared etiology?Annals of the New York Academy of Sciences · 2024
    Review
  2. Incidental finding of aBMJ case reports · 2024
    Article
  3. Article
  4. The Olfactory System as Marker of Neurodegeneration in Aging, Neurological and Neuropsychiatric Disorders.International journal of environmental research and public health · 2021
    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 1 country.

Paul A DawsonMater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia.
Soohyun LeeMater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia.
Adam D EwingMater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia.
Johannes B PrinsMater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia.
Helen S HeusslerMater Research Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia.
University of Queensland · AUMater Research · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report an actionable secondary finding from whole-genome sequencing (WGS) of a 10-year-old boy with autism. WGS identified non-synonymous variants in several genes, including a nonsense mutation in the

Indexed as

AutismKallmann syndromeSecondary findingsWhole-genome sequencing

Identifiers

PMID32382505
PMCPMC7200310
OpenAlexW3020975304

What Socratic 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 Socratic graph.