Evidence map›Paper›PMID 24468882›Full record

ReviewNature reviews. Neurology2014

Disentangling the heterogeneity of autism spectrum disorder through genetic findings.

Shafali S Jeste, Daniel H Geschwind

Abstract readReview
In one paragraph

Review in Nature reviews. Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 342 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
342citing papers in PubMed, 4 pooled it
32.9field-weighted citation impact, top 1% 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

342 citing papers in PubMed, 4 syntheses or guidelines pooled it, 662 citations in OpenAlex.

  1. Pooled it
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  5. Trial
  6. Network Analysis of Anxiety in the Autism Realm.Journal of autism and developmental disorders · 2019
    Trial
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282 more citing papers are in PubMed but not listed here.

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.

Shafali S JesteSemel Institute for Neuroscience and Human Behavior, 760 Westwood Plaza, Suite 68-237, Los Angeles, CA 90064, USA.
Daniel H GeschwindUniversity of California Los Angeles, Los Angeles, CA 90095, USA.
University of California, Los Angeles · US

Funding

Epigenetic and Transcriptional Dysregulation in Autism Spectrum DisorderR01MH094714 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2011 to 2015
$2.8M
Neural Predictors of Language Function After Intervention in Children with AutismK23MH094517 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI JESTE, SHAFALI SPURLING · 2011 to 2015
$906k
NIMH NIH HHS K23 MH094517NIMH NIH HHS R01 MH094714
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which presents a substantial challenge to diagnosis and treatment. Over the past decade, considerable progress has been made in the identification of genetic risk factors for ASD that define specific mechanisms and pathways underlying the associated behavioural deficits. In this Review, we discuss how some of the latest advances in the genetics of ASD have facilitated parsing of the phenotypic heterogeneity of this disorder. We argue that only through such advances will we begin to define endophenotypes that can benefit from targeted, hypothesis-driven treatments. We review the latest technologies used to identify and characterize the genetics underlying ASD and then consider three themes-single-gene disorders, the gender bias in ASD, and the genetics of neurological comorbidities-that highlight ways in which we can use genetics to define the many phenotypes within the autism spectrum. We also present current clinical guidelines for genetic testing in ASD and their implications for prognosis and treatment.

Indexed as

Child Development Disorders, PervasiveAnimalsBrainGenetic Predisposition to DiseaseGenetic TestingHumansMethyl-CpG-Binding Protein 2MutationMECP2 protein, humanMethyl-CpG-Binding Protein 2

Identifiers

PMID24468882
PMCPMC4125617
OpenAlexW1984331840

What OpenQuestion holds

Textmetadata
LicenceTDM
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.