Evidence map›Paper›PMID 39567701›Full record

ArticleNature2024

Examining the role of common variants in rare neurodevelopmental conditions.

Qin Qin Huang, Emilie M Wigdor, Daniel S Malawsky, Patrick Campbell, Kaitlin E Samocha, V Kartik Chundru, Petr Danecek, Sarah Lindsay, Thomas Marchant, Mahmoud Koko and 11 more

Abstract read
In one paragraph

Article in Nature, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed, 1 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

47 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Molecular genetics and metabolism reports · 2026
    Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Polygenic scores as modifiers in Mendelian diseases.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026
    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

21 authors.

Qin Qin Huang *Wellcome Sanger Institute, Hinxton, UK.ORCID 0000-0003-3073-717X
Emilie M Wigdor *Wellcome Sanger Institute, Hinxton, UK.
Daniel S MalawskyWellcome Sanger Institute, Hinxton, UK.
Patrick CampbellWellcome Sanger Institute, Hinxton, UK.
Kaitlin E SamochaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-1704-3352
V Kartik ChundruWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-6348-5565
Petr DanecekWellcome Sanger Institute, Hinxton, UK.
Sarah LindsayWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-0965-3070
Thomas MarchantWellcome Sanger Institute, Hinxton, UK.
Mahmoud KokoWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0001-9512-0184
Sana AmanatWellcome Sanger Institute, Hinxton, UK.
Davide BonfantiWellcome Sanger Institute, Hinxton, UK.
Eamonn SheridanWellcome Sanger Institute, Hinxton, UK.
Elizabeth J RadfordWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-7829-5422
Jeffrey C BarrettWellcome Sanger Institute, Hinxton, UK.
Caroline F WrightInstitute of Biomedical and Clinical Science, University of Exeter, Exeter, UK.ORCID 0000-0003-2958-5076
Helen V FirthWellcome Sanger Institute, Hinxton, UK.
Varun WarrierDepartment of Psychiatry, University of Cambridge, Cambridge, UK.ORCID 0000-0003-4532-8571
Alexander Strudwick YoungUniversity of California Los Angeles Anderson School of Management, Los Angeles, CA, USA.
Matthew E HurlesWellcome Sanger Institute, Hinxton, UK.ORCID 0000-0002-2333-7015
Hilary C MartinWellcome Sanger Institute, Hinxton, UK. hcm@sanger.ac.uk.ORCID 0000-0002-4454-9084

Funding

Medical Research Council MR/N01104X/1Wellcome Trust
6 · The paper itself

Abstract

Although rare neurodevelopmental conditions have a large Mendelian component

Indexed as

AllelesGenetic Risk ScoreGenetic VariationNeurodevelopmental DisordersRare DiseasesCase-Control StudiesChildCognitionEducational StatusFemaleHumansMaleParents

Identifiers

PMID39567701
PMCPMC11634775

What Socratic 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 Socratic graph.