Evidence map›Paper›PMID 37154571›Full record

ArticleHuman molecular genetics2023

Gene copy number variation and pediatric mental health/neurodevelopment in a general population.

Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, Edward J Higginbotham, John Wei, Sabah Shaikh, Nicole M Roslin, Jeffrey R MacDonald, Giovanna Pellecchia, Thomas Nalpathamkalam and 17 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human molecular genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
6.3field-weighted citation impact, top 3% 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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Review
  8. Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025
    Review
  9. Article
  10. Article
  11. Article
  12. Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors at 5 institutions in 2 countries.

Mehdi ZarreiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Christie L BurtonNeurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Worrawat EngchuanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Edward J HigginbothamThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
John WeiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Sabah ShaikhNeurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Nicole M RoslinThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jeffrey R MacDonaldThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Giovanna PellecchiaThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Thomas NalpathamkalamThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Sylvia LamoureuxThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Roozbeh ManshaeiThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jennifer HoweThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Brett TrostThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Christian R MarshallThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Ryan K C YuenThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Richard F WintleThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Lisa J StrugThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Dimitri J StavropoulosGenome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jacob A S VorstmanThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Paul ArnoldProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.
Daniele MericoThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Marc Woodbury-SmithThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Jennifer CrosbieNeurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Russell J SchacharNeurosciences and Mental Health Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Stephen W SchererThe Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
SickKids Foundation · CAHospital for Sick Children · CAUniversity of Toronto · CATed Rogers Centre for Heart Research · CAUniversity of Calgary · CA

Funding

Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_PC_19009Wellcome TrustWellcome Trust 217065/Z/19/Z
6 · The paper itself

Abstract

We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health and cognition in a community sample of 7100 unrelated children and youth of European or East Asian ancestry (Spit for Science). Clinically significant or susceptibility CNVs were present in 3.9% of participants and were associated with elevated scores on a continuous measure of attention-deficit/hyperactivity disorder (ADHD) traits (P = 5.0 × 10-3), longer response inhibition (a cognitive deficit found in several mental health and neurodevelopmental disorders; P = 1.0 × 10-2) and increased prevalence of mental health diagnoses (P = 1.9 × 10-6, odds ratio: 3.09), specifically ADHD, autism spectrum disorder anxiety and learning problems/learning disorder (P's < 0.01). There was an increased burden of rare deletions in gene-sets related to brain function or expression in brain associated with more ADHD traits. With the current mental health crisis, our data established a baseline for delineating genetic contributors in pediatric-onset conditions.

Indexed as

Attention Deficit Disorder with HyperactivityAutism Spectrum DisorderAdolescentChildDNA Copy Number VariationsGene DosageGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMental Health

Identifiers

PMID37154571
PMCPMC10360394
OpenAlexW4375861477

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.