Evidence map›Paper›PMID 19778709›Full record

ReviewSeminars in pediatric neurology2009

Genetics and biology of microcephaly and lissencephaly.

Ganeshwaran H Mochida

Abstract readReview
In one paragraph

Review in Seminars in pediatric neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
3.5field-weighted citation impact, top 7% 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

43 citing papers in PubMed, 102 citations in OpenAlex.

  1. Article
  2. Drospondin, a glial glycoprotein with similarities to human Reelin/F-spondin, contributes toProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  3. Article
  4. Article
  5. A novelFly · 2024
    Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. AFrontiers in pediatrics · 2022
    Article
  12. Article
  13. Article
  14. A novelClinical case reports · 2021
    Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Fetal and neonatal MRI features ofQuantitative imaging in medicine and surgery · 2019
    Article
  20. Article
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

1 author at 1 institution in 1 country.

Ganeshwaran H MochidaDepartment of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA. gmochida@bidmc.harvard.edu
Massachusetts General Hospital · US

Funding

HUMAN EPILEPSY GENETICS--NEURONAL MIGRATION DISORDERSR01NS035129 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 1997 to 2023
$9.5M
Human Epilepsy Genetics Neuronal Migration DisordersR37NS035129 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Christopher A. Walsh · 2002 to 2026
$6.5M
Howard Hughes Medical InstituteNINDS NIH HHS R01 NS035129NINDS NIH HHS R37 NS035129NINDS NIH HHS R37NS35129
6 · The paper itself

Abstract

Genetic microcephaly and lissencephaly are 2 of the most common brain malformations. Each of them is a heterogeneous group of disorders caused by mutations of many different genes. They are a significant cause of neurological morbidity in children worldwide, responsible for many cases of mental retardation, cerebral palsy, and epilepsy. Recent advances in molecular genetics have led to the identification of several genes causing these disorders, and thus accurate molecular diagnosis and improved genetic counseling has become available for many patients and their families. More recently identified genes include STIL, causing primary autosomal recessive microcephaly (microcephaly vera), and TUBA1A, causing lissencephaly. Numerous other disease genes are likely still to be identified. Functional studies of genes that cause microcephaly and lissencephaly have provided valuable insight into the molecular mechanisms of human brain development.

Indexed as

AnimalsHumansLissencephalyMagnetic Resonance ImagingMicrocephaly

Identifiers

PMID19778709
PMCPMC3565221
OpenAlexW2143156884

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.