Evidence map›Paper›PMID 18840528›Full record

ReviewNeurobiology of disease2010

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.

Amber Hogart, David Wu, Janine M LaSalle, N Carolyn Schanen

Open access · greenAbstract readReview
In one paragraph

Review in Neurobiology of disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 162 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
162citing papers in PubMed, 2 pooled it
14.1field-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

162 citing papers in PubMed, 2 syntheses or guidelines pooled it, 354 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. Article
  6. Article
  7. Article
  8. A rareFrontiers in genetics · 2026
    Article
  9. Article
  10. Article
  11. Article
  12. The gain-of-function UBE3AScientific reports · 2025
    Article
  13. Unraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration.International journal of molecular sciences · 2025
    Review
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Emerging roles for E3 ubiquitin ligases in neural development and disease.Frontiers in cell and developmental biology · 2025
    Review
  20. Article

102 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

4 authors at 3 institutions in 1 country.

Amber HogartDepartment of Medical Microbiology and Immunology, University of California, Davis, CA 95616, USA.
David Wu
Janine M LaSalle
N Carolyn Schanen
University of Delaware · USAlfred I. duPont Hospital for Children · USUniversity of California Davis Medical Center · US

Funding

TRAJECTORIES OF CHANGE IN BMI STATUS IN EARLY CHILDHOODP20RR020173 · NCRR · NEMOURS CHILDREN'S HOSPITAL, DELAWARE · PI MASON, ROBERT · 2004 to 2011
$14.9M
TARGETED INVESTIGATION OF DISTAL XQ IN RETT SYNDROMER01HD037874 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SCHANEN, N. CAROLYN · 2000 to 2010
$2.3M
Epigenetic Etiologies of Autism-Spectrum DisordersR01HD048799 · NICHD · UNIVERSITY OF CALIFORNIA DAVIS · PI LASALLE, JANINE M · 2005 to 2009
$1.8M
FUNCTIONAL IMAGING OF SOCIAL COMMUNICATION IN AUTISMP01HD035470 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BOOKHEIMER, SUSAN Y · 1997 to 2001
$1.7M
Analysis of 15q11-13 GABA-A Receptor Defects in AutismF31MH078377 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HOGART, AMBER R · 2007 to 2008
$60k
NCRR NIH HHS P20 RR020173NCRR NIH HHS P20-RR020173NICHD NIH HHS P01 HD035470NICHD NIH HHS P3P01 HD35470NICHD NIH HHS R01 HD037874NICHD NIH HHS R01 HD048799NICHD NIH HHS R01 HD37874NICHD NIH HHS R01 HD48799NIMH NIH HHS F31 MH078377
6 · The paper itself

Abstract

A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders (ASD). The region is subject to genomic imprinting and the behavioral phenotypes associated with the chromosome 15q11.2-q13 disorders show a parent-of-origin specific effect that suggests that an increased copy number of maternally derived alleles contributes to autism susceptibility. Notably, nonimprinted, biallelically expressed genes within the interval also have been shown to be misexpressed in brains of patients with chromosome 15q11.2-q13 genomic disorders, indicating that they also likely play a role in the phenotypic outcome. This review provides an overview of the phenotypes of these disorders and their relationships with ASD and outlines the regional genes that may contribute to the autism susceptibility imparted by copy number variation of the region.

Indexed as

Angelman SyndromeAutistic DisorderChildChromosome AberrationsChromosomes, Human, Pair 15HumansPrader-Willi Syndrome

Identifiers

PMID18840528
PMCPMC2884398
OpenAlexW2005585817

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.