Evidence map›Paper›PMID 37997544›Full record

ArticleAutism research : official journal of the International Society for Autism Research2023

Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.

Kathleen P O'Hora, Leila Kushan-Wells, Charles H Schleifer, Shayne Cruz, Gil D Hoftman, Maria Jalbrzikowski, Raquel E Gur, Ruben C Gur, Carrie E Bearden

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

Article in Autism research : official journal of the International Society for Autism Research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.4field-weighted citation impact, top 18% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 1 country.

Kathleen P O'HoraDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California, USA.ORCID 0000-0002-2556-6444
Leila Kushan-WellsDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California, USA.
Charles H SchleiferDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California, USA.
Shayne CruzCollege of Natural and Agricultural Science, University of California, Riverside, California, USA.
Gil D HoftmanDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California, USA.
Maria JalbrzikowskiDepartment of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, Massachusetts, USA.
Raquel E GurDepartment of Psychiatry, University of Pennsylvania and the Penn-CHOP Lifespan and Brain Institute, Philadelphia, Pennsylvania, USA.
Ruben C GurDepartment of Psychiatry, University of Pennsylvania and the Penn-CHOP Lifespan and Brain Institute, Philadelphia, Pennsylvania, USA.
Carrie E BeardenDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California, USA.
University of California, Los Angeles · USLifespan · USBoston Children's Hospital · USUniversity of California, Riverside · US

Funding

Neurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2M
Training Grant in Neurobehavioral GeneticsT32NS048004 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E, OPHOFF, ROEL A · 2004 to 2025
$5.8M
Neurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9M
Understanding Rare Genetic Variation and Disease Risk: A Global Neurogenetics InitiativeR01MH129858 · NIMH · SAINTE-JUSTINE UNIVERSITY HOSPITAL CTR · PI CARRIE E BEARDEN, Sebastien Jacquemont · 2023 to 2026
$2.4M
MARC at University of California RiversideT34GM149470 · NIGMS · UNIVERSITY OF CALIFORNIA RIVERSIDE · PI ERNEST MARTINEZ · 2023 to 2026
$2.1M
Genetic Risk for Developmental Expression of Neuropsychiatric Intermediate TraitsR01MH107250 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E, OPHOFF, ROEL A · 2015 to 2017
$1.7M
3/9 Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119736 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2019 to 2024
$1.2M
Autism Speaks #13530NIGMS NIH HHS T34 GM149470NIMH NIH HHS R01 MH085953NIMH NIH HHS R01MH085953NIMH NIH HHS R01 MH107250NIMH NIH HHS R01 MH129858NIMH NIH HHS R37 MH085953NIMH NIH HHS T32NS048004NIMH NIH HHS U01MH101779NIMH NIH HHS U01 MH119736NINDS NIH HHS T32 NS048004
6 · The paper itself

Abstract

Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers increased psychosis risk. Here, we used the Penn Computerized Neurocognitive Battery (Penn-CNB) to characterized neurocognitive profiles of 126 individuals: 55 22qDel carriers (M

Indexed as

Autism Spectrum DisorderDiGeorge SyndromePsychotic DisordersAdolescentAdultDNA Copy Number VariationsFemaleHumansMalePhenotypeYoung Adult22q.11.2 deletion syndrome22q11.2 duplicationcognitioncopy number variationintellectual abilitymemorypsychopathologypsychosissocial functionVelocardiofacial syndrome

Identifiers

PMID37997544
PMCPMC10872774
OpenAlexW4388982485

What OpenQuestion holds

Textmetadata
LicenceTDM
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.