Evidence map›Paper›PMID 34992252›Full record

ArticleEuropean journal of human genetics : EJHG2022

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J Curry, Patrick S Tarpey, Stephen P Robertson, Isabelle Maystadt and 13 more

Erratum issuedOpen access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

10 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. Identification of Novel Co-OccurringThe application of clinical genetics · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors at 12 institutions in 8 countries.

Jiyong Wang *Greenwood Genetic Center, Greenwood, SC, USA.
Aidin Foroutan *Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
Ellen Richardson *Greenwood Genetic Center, Greenwood, SC, USA.
Steven A SkinnerGreenwood Genetic Center, Greenwood, SC, USA.
Jack ReillyDepartment of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
Jennifer KerkhofVerspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.ORCID http://orcid.org/0000-0003-1245-6606
Cynthia J CurryGenetic Medicine, University of California, San Francisco/Fresno, Fresno, CA, USA.
Patrick S TarpeyWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Stephen P RobertsonDepartment of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.ORCID http://orcid.org/0000-0002-5181-7809
Isabelle MaystadtCentre de Génétique Humaine, Institute de Pathologie et de Génétique, Gosselies, BE, Charleroi, Belgium.
Boris KerenGenetic Department, La Pitie-Salpetriere Hospital, APHP.Sorbonne Universite, Paris, France.
Joanne W DixonGenetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand.
Cindy SkinnerGreenwood Genetic Center, Greenwood, SC, USA.
Rachel StapletonGenetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand.
Lyse RuaudDepartment of Genetics, APHP.Nord, Robert Debré Hospital, Paris, FR and University of Paris, UMR 1141NEURODIDEROT, INSERM, Paris, France.
Evren GumusMedical Genetics Department, Mugla Sitki Kocman University, Mugla, Turkey.ORCID http://orcid.org/0000-0001-9932-0730
Phillis LakemanDepartment of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.ORCID http://orcid.org/0000-0001-6385-1804
Mariëlle AldersDepartment of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.
Matthew L TedderGreenwood Genetic Center, Greenwood, SC, USA.ORCID http://orcid.org/0000-0003-0613-6702
Charles E SchwartzGreenwood Genetic Center, Greenwood, SC, USA.ORCID http://orcid.org/0000-0002-7770-1943
Michael J FriezGreenwood Genetic Center, Greenwood, SC, USA.
Bekim SadikovicDepartment of Pathology and Laboratory Medicine, Western University, London, ON, Canada.
Roger E StevensonGreenwood Genetic Center, Greenwood, SC, USA. res@ggc.org.ORCID http://orcid.org/0000-0002-1806-6345
Greenwood Genetic Center · USWestern University · CAAmsterdam University Medical Centers · NLChristchurch Hospital · NZInserm · FRInstitute of Pathology and Genetics · BELondon Health Sciences Centre · CAMuğla University · TRSorbonne Université · FRUniversity of California, San Francisco · USUniversity of Otago · NZWellcome Sanger Institute · GB

Funding

X-LINKED MENTAL RETARDATION: LINKAGE &CLINICAL STUDIESR01HD026202 · NICHD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI SCHWARTZ, CHARLES E · 1990 to 2006
$7.9M
NICHD NIH HHS R01 HD026202Wellcome Trust
6 · The paper itself

Abstract

ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711. The intellectual disability is typically mild and coexisting autism occurs in half of the cases. Carrier females show no manifestations. A ZNF711-specific methylation signature has been identified which can assist in identifying new cases and in confirming the pathogenicity of variants in the gene.

Indexed as

Autistic DisorderIntellectual DisabilityDNA-Binding ProteinsDNA MethylationFemaleGenes, X-LinkedHumansDNA-Binding ProteinsZNF711 protein, human

Identifiers

PMID34992252
PMCPMC8990020
OpenAlexW4206389064

What Socratic holds

Textmetadata
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 Socratic graph.