Evidence map›Paper›PMID 27781032›Full record

ReviewMolecular syndromology2016

Genetic Basis of Brain Malformations.

Elena Parrini, Valerio Conti, William B Dobyns, Renzo Guerrini

Open access · bronzeAbstract readReview
In one paragraph

Review in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 106 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
106citing papers in PubMed, 3 pooled it
32.7field-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

106 citing papers in PubMed, 3 syntheses or guidelines pooled it, 213 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Review
  5. Defining a Midgestational Window forbioRxiv : the preprint server for biology · 2026
    Article
  6. Article
  7. Article
  8. A novel homozygousFrontiers in pediatrics · 2026
    Article
  9. Article
  10. Review
  11. Article
  12. Multiple steps of dynein activation by Lis1 visualized by cryo-EM.Nature structural & molecular biology · 2025
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Women With Genetic Epilepsies.Neurology. Genetics · 2025
    Review
  18. Article
  19. Article
  20. Article

46 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 2 countries.

Elena ParriniPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
Valerio ContiPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
William B DobynsDivision of Genetic Medicine, Department of Pediatrics, University of Washington, and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Wash., USA.
Renzo GuerriniPediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
Meyer Children's Hospital · ITSeattle Children's Hospital · USUniversity of Florence · IT

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
SIGNAL TRANSDUCTION PATHWAYS FOR NEURONAL MIGRATIONP01NS039404 · NINDS · UNIVERSITY OF CHICAGO · PI DOBYNS, WILLIAM B · 1999 to 2003
$4.9M
Megalencephaly and segmental brain overgrowth in humansR01NS092772 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MILLEN, KATHLEEN JOYCE · 2015 to 2019
$3.3M
NINDS NIH HHS P01 NS039404NINDS NIH HHS R01 NS058721NINDS NIH HHS R01 NS092772
6 · The paper itself

Abstract

Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the

Indexed as

Cortical developmentLissencephalyMalformation

Identifiers

PMID27781032
PMCPMC5073505
OpenAlexW2511110663

What OpenQuestion holds

Textmetadata
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.