Evidence map›Paper›PMID 34056838›Full record

ArticleAmerican journal of medical genetics. Part A2021

Behavioral and cognitive functioning in individuals with Cantú syndrome.

Helen I Roessler, Lieke M van der Heuvel, Kathleen Shields, Kristin P Guilliams, Nine V A M Knoers, Gijs van Haaften, Dorothy K Grange, Mieke M van Haelst

Open access · hybridAbstract read
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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 44% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Cantú Syndrome: A Poorly Understood Multi-Organ Disorder.International journal of molecular sciences · 2026
    Review
  2. Article
  3. Article
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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

8 authors at 4 institutions in 2 countries.

Helen I RoesslerDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0003-3409-0756
Lieke M van der HeuvelDepartment of Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Kathleen ShieldsDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Kristin P GuilliamsDivision of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Nine V A M KnoersDepartment of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
Gijs van HaaftenDepartment of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Dorothy K GrangeDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Mieke M van HaelstDepartment of Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Washington University in St. Louis · USAmsterdam University Medical Centers · NLUtrecht University · NLUniversity Medical Center Groningen · NL

Funding

Clinical Trial Readiness for K channel inhibitors in Cantu SyndromeR21HD103347 · NICHD · WASHINGTON UNIVERSITY · PI GRANGE, DOROTHY KATHERINE, NICHOLS, COLIN G · 2020 to 2021
$433k
NICHD NIH HHS R21 HD103347
6 · The paper itself

Abstract

Cantú syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore-forming subunits of ATP-sensitive potassium (K

Indexed as

BehaviorCognitionPhenotypeAdolescentAdultAgedAllelesCardiomegalyChildChild, PreschoolEmotionsFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansHypertrichosisABCC9 protein, humanSulfonylurea ReceptorsautismbehaviorCantú syndromeDSM Vintelligencepsychiatric symptoms

Identifiers

PMID34056838
PMCPMC8631004
OpenAlexW3164382700

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.