Evidence map›Paper›PMID 24477430›Full record

ReviewBrain : a journal of neurology2014

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Timothy J Edwards, Elliott H Sherr, A James Barkovich, Linda J Richards

Registry-linked trialAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Brain : a journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00305305 (Disorders of Cerebral Development), which is not on this map. Cited by 149 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
149citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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.

NCT00305305 recruitingnot on this map

Disorders of Cerebral Development: A Phenotypic and Genetic Analysis

TypeobservationalSponsorUniversity of California, San FranciscoRan2003 to 2027Enrolled2,000ConditionsBrain Disorders, Aicardi Syndrome
3 · Its place in the literature

Who cites it

149 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
  3. Trial
  4. Journal of medical genetics · 2026
    Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. From Overgrowth to Complex Malformations: A NovelChildren (Basel, Switzerland) · 2025
    Article
  13. Visualization of the Fetal Corpus Callosum in Routine Second Trimester Screening Ultrasound Examinations.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2025
    Article
  14. Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2025
    Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

89 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

Timothy J Edwards1 Queensland Brain Institute, The University of Queensland, Brisbane, 4072, Australia2 Departments of Neurology and Pediatrics, The University of California and the Benioff Children's Hospital, CA, 94158, USA.
Elliott H Sherr3 Departments of Pediatrics and Neurosurgery, Radiology and Biomedical Imaging, The University of California Children's Hospital, CA 94143, USA.
A James Barkovich3 Departments of Pediatrics and Neurosurgery, Radiology and Biomedical Imaging, The University of California Children's Hospital, CA 94143, USA4 Departments of Paediatrics and Neurosurgery, Radiology and Biomedical Imaging, The University of California San Francisco and The Benioff Children's Hospital, CA 94143-0628 USA.
Linda J Richards1 Queensland Brain Institute, The University of Queensland, Brisbane, 4072, Australia5 School of Biomedical Sciences, The University of Queensland, Brisbane, 4072, Australia richards@uq.edu.au.

Funding

De novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9M
NINDS NIH HHS R01NS058721
6 · The paper itself

Abstract

The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral hemispheres, and thereby facilitating the integration of motor and sensory information from the two sides of the body as well as influencing higher cognition associated with executive function, social interaction and language. Agenesis of the corpus callosum is a common brain malformation that can occur either in isolation or in association with congenital syndromes. Understanding the causes of this condition will help improve our knowledge of the critical brain developmental mechanisms required for wiring the brain and provide potential avenues for therapies for callosal agenesis or related neurodevelopmental disorders. Improved genetic studies combined with mouse models and neuroimaging have rapidly expanded the diverse collection of copy number variations and single gene mutations associated with callosal agenesis. At the same time, advances in our understanding of the developmental mechanisms involved in corpus callosum formation have provided insights into the possible causes of these disorders. This review provides the first comprehensive classification of the clinical and genetic features of syndromes associated with callosal agenesis, and provides a genetic and developmental framework for the interpretation of future research that will guide the next advances in the field.

Indexed as

Agenesis of Corpus CallosumAnimalsCorpus CallosumDisease Models, AnimalGenetic Predisposition to DiseaseHumansMutationaxon guidancecorpus callosummidline patterningneurogenesisneuronal specification

Identifiers

PMID24477430
PMCPMC4032094

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.