Evidence map›Paper›PMID 28649445›Full record

ArticleNPJ genomic medicine2017

Variable phenotype expression in a family segregating microdeletions of the

Marc Woodbury-Smith, Rob Nicolson, Mehdi Zarrei, Ryan K C Yuen, Susan Walker, Jennifer Howe, Mohammed Uddin, Ny Hoang, Janet A Buchanan, Christina Chrysler and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in NPJ genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
2.6field-weighted citation impact, top 10% 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

25 citing papers in PubMed, 47 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Oligogenic inheritance in severe adult obesity.International journal of obesity (2005) · 2024
    Article
  6. Article
  7. Article
  8. Article
  9. A Novel Genetic Variant inInternational journal of molecular sciences · 2023
    Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Genetic Advances in Autism.Journal of autism and developmental disorders · 2021
    Review
  16. Article
  17. Review
  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

13 authors at 5 institutions in 2 countries.

Marc Woodbury-SmithDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON, Canada.
Rob NicolsonDepartment of Psychiatry, University of Western Ontario, London, ON, Canada.
Mehdi ZarreiProgram in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Ryan K C YuenProgram in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Susan WalkerProgram in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Jennifer HoweProgram in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Mohammed UddinProgram in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Ny HoangAutism Research Unit, The Hospital for Sick Children, Toronto, ON, Canada.
Janet A BuchananProgram in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Christina ChryslerDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON, Canada.
Ann ThompsonDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, ON, Canada.
Peter SzatmariCentre for Addiction and Mental Health, The Hospital for Sick Children & University of Toronto, Toronto, ON, Canada.
Stephen W SchererProgram in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Hospital for Sick Children · CAMcMaster University · CACentre for Addiction and Mental Health · CAUniversity of Toronto · CAWestern University · CA

Funding

CIHR 125818-1CIHR 129338-1CIHR 140849-1CIHR 143295-1Wellcome Trust
6 · The paper itself

Abstract

Autism Spectrum Disorder (ASD) is a developmental condition of early childhood onset, which impacts socio-communicative functioning and is principally genetic in etiology. Currently, more than 50 genomic loci are deemed to be associated with susceptibility to ASD, showing

Indexed as

Autism spectrum disorder (ASD)MBD5NRXN1penetrancephenotype

Identifiers

PMID28649445
PMCPMC5482711
OpenAlexW2608197006

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.