Evidence map›Paper›PMID 34423884›Full record

ArticleAmerican journal of medical genetics. Part A2021

Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations.

Mirko Uljarević, Thomas W Frazier, Gaëlle Rached, Robyn M Busch, Patricia Klaas, Siddharth Srivastava, Julian A Martinez-Agosto, Mustafa Sahin, Charis Eng, Antonio Y Hardan and 1 more

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

Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 41% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Altered Primary Somatosensory Neuron Development in a Pten Heterozygous Model for Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2025
    Article
  2. Review
  3. Article
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

11 authors at 8 institutions in 3 countries.

Mirko UljarevićFaculty of Medicine, Dentistry, and Health Sciences, Melbourne School of Psychological Sciences, The University of Melbourne, Melbourne, Victoria, Australia.ORCID 0000-0002-7481-3923
Thomas W FrazierDepartment of Psychology, John Carroll University, University Heights, Ohio, USA.
Gaëlle RachedUniversité Saint Joseph, Beirut, Lebanon.
Robyn M BuschDepartment of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Patricia KlaasDepartment of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Siddharth SrivastavaDepartment of Neurology, Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0001-7008-1879
Julian A Martinez-AgostoDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.ORCID 0000-0001-6776-6949
Mustafa SahinDepartment of Neurology, Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Charis EngGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Antonio Y HardanDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.
Developmental Synaptopathies Consortium
Boston Children's Hospital · USCleveland Clinic · USAutism Speaks · USCleveland Clinic Lerner College of Medicine · USSaint Joseph University · LBStanford University · USThe University of Melbourne · AUUniversity of California, Los Angeles · US

Funding

The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso · 2019 to 2026
$51.2M
Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI M. Pilar Trelles · 2014 to 2026
$20.1M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
NCATS NIH HHS U2C TR002818NICHD NIH HHS P50 HD105351NINDS NIH HHS U54 NS092090
6 · The paper itself

Abstract

This study aimed to further our understanding of restricted and repetitive behaviors (RRB) among individuals with germline pathogenic mutations in PTEN by providing multimethod characterization and comparison of key RRB subdomains across individuals with PTEN mutations with autism spectrum disorder (ASD) (PTEN-ASD), with PTEN mutations without ASD (PTEN-No ASD) and with ASD and macrocephaly but without PTEN mutations (Macro-ASD). Of 86 total research participants, 38 had PTEN-ASD (M

Indexed as

Genetic Predisposition to DiseaseAutism Spectrum DisorderChildChild, PreschoolCognitionFemaleGerm-Line MutationHeterozygoteHumansIntelligence TestsMaleMegalencephalyPTEN PhosphohydrolaseStereotyped BehaviorPTEN PhosphohydrolasePTEN protein, humanautismmacrocephalyPTENrepetitive behaviors

Identifiers

PMID34423884
PMCPMC8530948
OpenAlexW3193701879

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.