Evidence map›Paper›PMID 37292882›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Distinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus.

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

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed, 3 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 3 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, CA, USA.
Leila Kushan-WellsDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
Gil D HoftmanDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
Maria JalbrzikowskiDepartment of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, MA, USA.
Raquel C GurDepartment of Psychiatry, University of Pennsylvania and the Penn-CHOP Lifespan and Brain Institute, Philadelphia, PA, USA.
Ruben GurDepartment of Psychiatry, University of Pennsylvania and the Penn-CHOP Lifespan and Brain Institute, Philadelphia, PA, USA.
Carrie E BeardenDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
University of California, Los Angeles · USLifespan · USBoston Children's Hospital · 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
Imaging transcriptomics across developmental stages of early psychotic illnessK23MH129826 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI HOFTMAN, GIL D · 2023 to 2024
$393k
NIMH NIH HHS K23 MH129826NIMH NIH HHS R01 MH085953
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

22q11.2 deletion syndrome22q11.2 duplicationcognitioncopy number variationintellectual abilitymemorypsychopathologypsychosissocial functionvelocardiofacial syndrome

Identifiers

PMID37292882
PMCPMC10246073
OpenAlexW4376636701

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.