Evidence map›Paper›PMID 36737482›Full record

ReviewMolecular psychiatry2023

The contribution of copy number variants to psychiatric symptoms and cognitive ability.

Josephine Mollon, Laura Almasy, Sebastien Jacquemont, David C Glahn

Open access · greenAbstract readReview
In one paragraph

Review in Molecular psychiatry, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
21.9field-weighted citation impact, top 1% 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

43 citing papers in PubMed, 71 citations in OpenAlex.

  1. Trial
  2. Article
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  4. Schizophrenia: from mechanism to therapy.Science China. Life sciences · 2026
    Review
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  11. Review
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  15. Review
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  19. Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative Modeling.medRxiv : the preprint server for health sciences · 2025
    Article
  20. Review
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

4 authors at 3 institutions in 2 countries.

Josephine MollonDepartment of Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. josephine.mollon@childrens.harvard.edu.ORCID 0000-0003-4557-1838
Laura AlmasyDepartment of Genetics, Perelman School of Medicine, Penn-CHOP Lifespan Brain Institute, University of Pennsylvania, Philadelphia, PA, USA.
Sebastien JacquemontDepartment of Pediatrics, Université de Montréal, Montreal, QC, Canada.ORCID 0000-0001-6838-8767
David C GlahnDepartment of Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Boston Children's Hospital · USCentre Hospitalier Universitaire Sainte-Justine · CALifespan · US

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
Large-Scale Evaluation of the Effect of Rare Genetic Variants on Psychiatric Symptoms and Cognitive AbilityU01MH119690 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI ALMASY, LAURA A., GLAHN, DAVID C · 2019 to 2023
$5.9M
6/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders.U01MH119739 · NIMH · SAINTE-JUSTINE UNIVERSITY HOSPITAL CTR · PI JACQUEMONT, SEBASTIEN · 2020 to 2024
$527k
NICHD NIH HHS P50 HD105351NIMH NIH HHS U01 MH119690NIMH NIH HHS U01 MH119739
6 · The paper itself

Abstract

Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most frequently studied CNVs, which are described in this review, are recurrent CNVs that occur in the same locations on the genome. These CNVs have been strongly implicated in neurodevelopmental disorders, namely autism spectrum disorder (ASD), intellectual disability (ID), and developmental delay (DD), but also in schizophrenia. More recent work has also shown that CNVs increase risk for other psychiatric disorders, namely, depression, bipolar disorder, and post-traumatic stress disorder. Many of the same CNVs are implicated across all of these disorders, and these neuropsychiatric CNVs are also associated with cognitive ability in the general population, as well as with structural and functional brain alterations. Neuropsychiatric CNVs also show incomplete penetrance, such that carriers do not always develop any psychiatric disorder, and may show only mild symptoms, if any. Variable expressivity, whereby the same CNVs are associated with many different phenotypes of varied severity, also points to highly complex mechanisms underlying disease risk in CNV carriers. Comprehensive and longitudinal phenotyping studies of individual CNVs have provided initial insights into these mechanisms. However, more work is needed to estimate and predict the effect of non-recurrent, ultra-rare CNVs, which also contribute to psychiatric and cognitive outcomes. Moreover, delineating the broader phenotypic landscape of neuropsychiatric CNVs in both clinical and general population cohorts may also offer important mechanistic insights.

Indexed as

Autism Spectrum DisorderIntellectual DisabilitySchizophreniaCognitionDNA Copy Number VariationsHumans

Identifiers

PMID36737482
PMCPMC10213133
OpenAlexW4319080486

What OpenQuestion holds

Textmetadata
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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.