Evidence map›Paper›PMID 29904576›Full record

ReviewF1000Research2018

Genomics of autism spectrum disorder: approach to therapy.

Fatma Ayhan, Genevieve Konopka

Open access · goldAbstract readReview
In one paragraph

Review in F1000Research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.1field-weighted citation impact, top 20% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Regulatory genes and pathways disrupted in autism spectrum disorders.Progress in neuro-psychopharmacology & biological psychiatry · 2019
    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

2 authors at 1 institution in 1 country.

Fatma AyhanDepartment of Neuroscience, UT Southwestern Medical Center, Dallas, 75390-9111 TX, USA.
Genevieve KonopkaDepartment of Neuroscience, UT Southwestern Medical Center, Dallas, 75390-9111 TX, USA.
Southwestern Medical Center · US

Funding

Basic Science Training Program in Drug Abuse ResearchT32DA007290 · NIDA · YALE UNIVERSITY · PI SELF, DAVID W · 1992 to 2017
$6.7M
The role of Foxp1-regulated signaling pathways in brain development and behaviorR01MH102603 · NIMH · UT SOUTHWESTERN MEDICAL CENTER · PI KONOPKA, GENEVIEVE · 2015 to 2019
$2.2M
Functional dissection of mammalian vocal communicationR01DC014702 · NIDCD · UT SOUTHWESTERN MEDICAL CENTER · PI KONOPKA, GENEVIEVE · 2016 to 2020
$1.7M
NIDA NIH HHS T32 DA007290NIDCD NIH HHS R01 DC014702NIMH NIH HHS R01 MH102603
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition with no current treatment available. Although advances in genetics and genomics have identified hundreds of genes associated with ASD, very little is known about the pathophysiology of ASD and the functional contribution of specific genes to ASD phenotypes. Improved understanding of the biological function of ASD-associated genes and how this heterogeneous group of genetic variants leads to the disease is needed in order to develop therapeutic strategies. Here, we review the current state of ASD research related to gene discovery and examples of emerging molecular mechanisms (protein translation and alternative splicing). In addition, we discuss how patient-derived three-dimensional brain organoids might provide an opportunity to model specific genetic variants in order to define molecular and cellular defects that could be amenable for developing and screening personalized therapies related to ASD.

Indexed as

autismgeneticsgenomicsiPSCsorganoidssingle-cell RNA-sequencing

Identifiers

PMID29904576
PMCPMC5964630
OpenAlexW2804396535

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.