Evidence map›Paper›PMID 18728070›Full record

ReviewJournal of medical genetics2009

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.

C Lintas, A M Persico

Abstract readReview
In one paragraph

Review in Journal of medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 2 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.

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

59 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Perceptions of Autism Spectrum Disorder (ASD) Etiology among Parents of Children with ASD.International journal of environmental research and public health · 2021
    Article
  11. Article
  12. Review
  13. Blood platelet research in autism spectrum disorders: In search of biomarkers.Research and practice in thrombosis and haemostasis · 2019
    Review
  14. Family Physicians' Awareness of Autism Spectrum Disorder: Results from a Survey Study.Open access Macedonian journal of medical sciences · 2019
    Article
  15. Review
  16. Review
  17. Whole-Exome Sequencing Identifies One De Novo Variant in theInternational journal of genomics · 2018
    Article
  18. Review
  19. 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

2 authors.

C LintasLaboratory of Molecular Psychiatry and Neurogenetics, University Campus Bio-Medico, Via Alvaro del Portillo 21, I-00128 Rome, Italy.
A M Persico

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype-phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.

Indexed as

Genetic TestingAutistic DisorderCarrier ProteinsCell Adhesion Molecules, NeuronalGenetic CounselingGenetics, MedicalHumansMembrane ProteinsMethyl-CpG-Binding Protein 2Microfilament ProteinsMSX1 Transcription FactorNerve Tissue ProteinsPhenotypePTEN PhosphohydrolaseTensinsCarrier ProteinsCell Adhesion Molecules, NeuronalMembrane ProteinsMethyl-CpG-Binding Protein 2Microfilament ProteinsMSX1 Transcription FactorNerve Tissue Proteinsneuroligin 3PTEN PhosphohydrolaseSHANK3 protein, humanTensins

Identifiers

PMID18728070
PMCPMC2603481

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.