Evidence map›Paper›PMID 21701786›Full record

ReviewHuman genetics2011

Risk factors for autism: translating genomic discoveries into diagnostics.

Stephen W Scherer, Geraldine Dawson

Abstract readReview
PubMed Publisher
In one paragraph

Review in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed
8.9field-weighted citation impact, top 2% 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

53 citing papers in PubMed, 125 citations in OpenAlex.

  1. Article
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  8. Review
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  12. Review
  13. A Low Rank Model for Phenotype Imputation in Autism Spectrum Disorder.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2018
    Article
  14. Article
  15. A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2017
    Article
  16. Article
  17. Article
  18. Article
  19. Article
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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 2 institutions in 2 countries.

Stephen W SchererMcLaughlin Centre and The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada. stephen.scherer@sickkids.ca
Geraldine Dawson
University of North Carolina at Chapel Hill · USUniversity of Toronto · CA

Funding

Canadian Institutes of Health ResearchMedical Research Council
6 · The paper itself

Abstract

Autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in communication and reciprocal social interaction, and the presence of restricted and repetitive behaviors. The spectrum of autistic features is variable, with severity of symptoms ranging from mild to severe, sometimes with poor clinical outcomes. Twin and family studies indicate a strong genetic basis for ASD susceptibility. Recent progress in defining rare highly penetrant mutations and copy number variations as ASD risk factors has prompted early uptake of these research findings into clinical diagnostics, with microarrays becoming a 'standard of care' test for any ASD diagnostic work-up. The ever-changing landscape of the generation of genomic data coupled with the vast heterogeneity in cause and expression of ASDs (further influenced by issues of penetrance, variable expressivity, multigenic inheritance and ascertainment) creates complexity that demands careful consideration of how to apply this knowledge. Here, we discuss the scientific, ethical, policy and communication aspects of translating the new discoveries into clinical and diagnostic tools for promoting the well-being of individuals and families with ASDs.

Indexed as

DNA Copy Number VariationsHealth PolicyInterdisciplinary CommunicationAutistic DisorderChildChild Development Disorders, PervasiveEnvironmentHumansMutationRisk FactorsStandard of CareTranslational Research, Biomedical

Identifiers

PMID21701786
OpenAlexW1972501089

What Socratic 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 Socratic graph.