Evidence map›Paper›PMID 33571729›Full record

ReviewCurrent opinion in genetics & development2021

Pathways to understanding psychosis through rare - 22q11.2DS - and common variants.

Raquel E Gur, David R Roalf, Aaron Alexander-Bloch, Donna M McDonald-McGinn, Ruben C Gur

Open access · greenAbstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 37% 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

5 citing papers in PubMed, 12 citations in OpenAlex.

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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

5 authors at 1 institution in 1 country.

Raquel E GurLifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, the Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, and the Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address: raquel@pennmedicine.upenn.edu.
David R RoalfLifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, the Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, and the Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Aaron Alexander-BlochLifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, the Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, and the Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Donna M McDonald-McGinnDivision of Human Genetics and 22q and You Center, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ruben C GurLifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia, the Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, and the Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Children's Hospital of Philadelphia · US

Funding

Ultra-high field GluCEST MRI and MRS in youth at risk for psychosisR01MH120174 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI ROALF, DAVID R · 2020 to 2024
$3.8M
Evolution of Psychosis in Youth: Multimodal Risk and Resilience MarkersR01MH119219 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E, GUR, RUBEN C. · 2019 to 2023
$3.8M
Olfactory and facial markers of developmental risk for psychosis in 22q11 deletion syndromeR01MH119185 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI ROALF, DAVID R · 2019 to 2024
$3.5M
1/9: Dissecting the effects of genomic variants on nenriched for neuropsychiatric disorderseurobehavioral dimensions in CNVs U01MH119738 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2019 to 2023
$3.2M
Creating an adaptive screening tool for detecting neurocognitive deficits and psychopathology across the lifespanR01MH117014 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RUBEN C. · 2019 to 2022
$2.9M
1/5 International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeU01MH101719 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 2013 to 2016
$2.8M
"4/5 International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome"U01MH101722 · NIMH · KATHOLIEKE UNIVERSITEIT LEUVEN · PI SWILLEN, ANN · 2013 to 2016
$1.3M
Combined brain and gene network approaches to the developmental hypothesis of schizophreniaK08MH120564 · NIMH · YALE UNIVERSITY · PI ALEXANDER-BLOCH, AARON FELIX · 2019 to 2023
$923k
NIMH NIH HHS K08 MH120564NIMH NIH HHS R01 MH117014NIMH NIH HHS R01 MH119185NIMH NIH HHS R01 MH119219NIMH NIH HHS R01 MH120174NIMH NIH HHS U01 MH101719NIMH NIH HHS U01 MH101722NIMH NIH HHS U01 MH119738
6 · The paper itself

Abstract

The 22q11.2 Deletion Syndrome has significant impact on brain and behavior, with about 25% of individuals developing schizophrenia. The condition offers a model for prospective studies on the emergence of psychosis and advancing mechanistic hypotheses on gene-environment interactions, with magnified power for examining genome-phenome association. Here, we highlight findings that build on the International 22q11.2 Brain and Behavior Consortium and relate to several key domains in the study of psychosis-risk and schizophrenia. We examine neurocognition, olfaction and neuroimaging data that indicate similar impairment patterns in this rare syndrome and idiopathic presentation of schizophrenia. We conclude that the converging paradigms, studying psychosis dimensionally in rare and common variants samples, provide complementary approaches that will propel precision medicine in psychiatry.

Indexed as

Genetic Association StudiesGenetic VariationBrainChromosomes, Human, Pair 22DiGeorge SyndromeExecutive FunctionGene-Environment InteractionHumansNeurocognitive DisordersNeuroimagingPsychotic DisordersSchizophreniaSmell

Identifiers

PMID33571729
PMCPMC8728946
OpenAlexW3126522886

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.