Evidence map›Paper›PMID 34440449›Full record

ArticleGenes2021

A Case Series of Familial

Pleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, Kareesma Parbhoo, Bregje W van Bon, Jennifer C Dempsey, Dan Doherty, Johan T den Dunnen, Erica H Gerkes, Ilana M Milller and 13 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.7field-weighted citation impact, top 31% 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

8 citing papers in PubMed, 10 citations in OpenAlex.

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  5. Genetics in medicine open · 2024
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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

23 authors at 13 institutions in 5 countries.

Pleuntje J van der SluijsDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.ORCID 0000-0002-1174-2806
Mariëlle AldersDepartment of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Alexander J M DingemansDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Kareesma ParbhooDivision of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.ORCID 0000-0002-4806-9571
Bregje W van BonDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Jennifer C DempseyDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Dan DohertyDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.ORCID 0000-0001-9377-028X
Johan T den DunnenHuman Genetics and Clinical Genetics, Leiden University Medical Centre, 2333 ZA Leiden, The Netherlands.ORCID 0000-0002-6304-1710
Erica H GerkesDepartment of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.
Ilana M MilllerRare Disease Institute, Children's National Hospital, Washington, DC 20010, USA.
Stephanie MoortgatCentre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.ORCID 0000-0002-4783-8674
Debra S RegierRare Disease Institute, Children's National Hospital, Washington, DC 20010, USA.
Claudia A L RuivenkampDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Betsy SchmalzDivision of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Thomas SmolEA7364 RADEME, Institut de Génétique Médicale, Université de Lille, CHU de Lille, F-59000 Lille, France.ORCID 0000-0002-0119-5896
Kyra E StuurmanErasmus MC, Department of Clinical Genetics, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands.
Catherine Vincent-DelormeEA7364 RADEME, Université de Lille, Clinique de Génétique, CHU de Lille, F-59000 Lille, France.
Bert B A de VriesDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Bekim SadikovicVerspeeten Clinical Genome Centre and London Health Sciences Centre, Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Scott E HickeyDivision of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-5664-7987
Isabelle MaystadtCentre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.ORCID 0000-0001-7170-8186
Gijs W E SantenDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Leiden University Medical Center · NLNationwide Children's Hospital · USRadboud University Nijmegen · NLChildren's National · USInstitute of Pathology and Genetics · BEUniversité de Lille · FRUniversity of Washington · USAmsterdam University Medical Centers · NLBaylor College of Medicine · USErasmus MC · NLLeiden University · NLUniversity Medical Center Groningen · NLWestern University · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic Predisposition to DiseaseAbnormalities, MultipleAdolescentAdultChildDNA-Binding ProteinsDNA MethylationFaceFemaleGene Expression RegulationHand Deformities, CongenitalHumansIntellectual DisabilityLoss of Function MutationMaleMiddle AgedARID1B protein, humanDNA-Binding ProteinsTranscription FactorsACMG guidelinesARID1BCoffin–Siris syndromefamilialinheritedintellectual disabilitynon-pathogenicvariable expression

Identifiers

PMID34440449
PMCPMC8393241
OpenAlexW3196008066

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.