Evidence map›Paper›PMID 20955932›Full record

ReviewNeuron2010

Allelic diversity in human developmental neurogenetics: insights into biology and disease.

Christopher A Walsh, Elizabeth C Engle

Open access · bronzeAbstract readReview
In one paragraph

Review in Neuron, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
4.9field-weighted citation impact, top 4% 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

24 citing papers in PubMed, 61 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Article
  5. Review
  6. Canonical TGF-β Signaling Negatively Regulates Neuronal Morphogenesis through TGIF/Smad Complex-Mediated CRMP2 Suppression.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. The diverse genetic landscape of neurodevelopmental disorders.Annual review of genomics and human genetics · 2014
    Review
  12. X11/Mint genes control polarized localization of axonal membrane proteins in vivo.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013
    Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Review
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

2 authors at 1 institution in 1 country.

Christopher A WalshDivision of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA. christopher.walsh@childrens.harvard.edu
Elizabeth C Engle
Howard Hughes Medical Institute · US

Funding

HUMAN EPILEPSY GENETICS--NEURONAL MIGRATION DISORDERSR01NS035129 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 1997 to 2023
$9.5M
Human autism genetics and activity dependent gene activationRC2MH089952 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 2009 to 2010
$5.1M
Genetic Analysis of Microcephaly in Tunisian PopulationR21TW008223 · FIC · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 2008 to 2009
$190k
FIC NIH HHS R21 TW008223Howard Hughes Medical InstituteNIMH NIH HHS RC2 MH089952NINDS NIH HHS R01 NS035129
6 · The paper itself

Abstract

One of the biggest challenges in neuroscience is illuminating the architecture of developmental brain disorders, which include structural malformations of the brain and nerves, intellectual disability, epilepsy, and some psychiatric conditions like autism and potentially schizophrenia. Ongoing gene identification reveals a great diversity of genetic causes underlying abnormal brain development, illuminating new biochemical pathways often not suspected based on genetic studies in other organisms. Our greater understanding of genetic disease also shows the complexity of allelic diversity, in which distinct mutations in a given gene can cause a wide range of distinct diseases or other phenotypes. These diverse alleles not only provide a platform for discovery of critical protein-protein interactions in a genetic fashion, but also illuminate the likely genetic architecture of as yet poorly characterized neurological disorders.

Indexed as

AllelesGenetic Predisposition to DiseaseNeurosciencesAnimalsBrain DiseasesHumansMutation

Identifiers

PMID20955932
PMCPMC3010396
OpenAlexW2006827717

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.