Evidence map›Paper›PMID 23352155›Full record

ArticleNeuron2013

Rare inherited variation in autism: beginning to see the forest and a few trees.

Jason L Stein, Neelroop N Parikshak, Daniel H Geschwind

Open access · bronzeAbstract readComment
In one paragraph

Article in Neuron, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
6.4field-weighted citation impact, top 3% 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

28 citing papers in PubMed, 66 citations in OpenAlex.

  1. Article
  2. Review
  3. iScience · 2022
    Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Frontiers in genetics · 2018
    Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Genetic research in autism spectrum disorders.Current opinion in pediatrics · 2015
    Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.Proceedings of the National Academy of Sciences of the United States of America · 2014
    Article
  19. Review
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Jason L SteinProgram in Neurogenetics, Department of Neurology and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
Neelroop N Parikshak
Daniel H Geschwind
University of California, Los Angeles · US

Funding

Understanding Repetitive Behavior in AutismP50HD055784 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BOOKHEIMER, SUSAN Y · 2007 to 2021
$32.0M
UCLA-Caltech Medical Scientist Training ProgramT32GM008042 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI AJIJOLA, OLUJIMI A, DAWSON, DAVID WAYNE · 1985 to 2023
$29.9M
A Comprehensive Approach to Identification of Autism Susceptibility GenesR01MH081754 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2008 to 2012
$14.6M
Transcriptional Regulators in Normal Human Brain Development and AutismF30MH099886 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI PARIKSHAK, NEELROOP NARENDRA · 2012 to 2015
$85k
NICHD NIH HHS P50 HD055784NIGMS NIH HHS T32 GM008042NIMH NIH HHS F30 MH099886NIMH NIH HHS R01 MH081754
6 · The paper itself

Abstract

In this issue of Neuron, two papers (Lim et al., 2013; Yu et al., 2013) use whole-exome sequencing (WES) to elucidate the contribution of inherited variation to the risk for autism by leveraging the increased penetrance of homozygous and compound heterozygous rare variants in autosomes and hemizygous rare variants in the X chromosome of males. Together, they expand our knowledge about the genetic architecture of ASD, verify previously identified genes, and identify novel mutations that will guide the discovery of the critical biological processes disrupted in autism.

Identifiers

PMID23352155
PMCPMC3691080
OpenAlexW2070888127

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.