Evidence map›Paper›PMID 30459321›Full record

ArticleNature communications2018

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, Laila C Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C S Nagamani, Sau Wai Cheung, Philippe M Campeau, Chitra Prasad and 17 more

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

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed
4.8field-weighted citation impact, top 4% 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

70 citing papers in PubMed, 121 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. FamilialGenes · 2025
    Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

10 more citing papers are in PubMed but not listed here.

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

27 authors at 12 institutions in 4 countries.

Erfan Aref-EshghiDepartment of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.
Eric G BendPrevention Genetics, Marshfield, 54449, WI, USA.
Rebecca L HoodChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada.
Laila C SchenkelDepartment of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.
Deanna Alexis CarereMolecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada.
Rana ChakrabartiChildren's Health Research Institute, London, N6A 5W9, ON, Canada.
Sandesh C S NagamaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, TX, USA.
Sau Wai CheungDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, TX, USA.ORCID http://orcid.org/0000-0002-3813-5256
Philippe M CampeauDepartment of Pediatrics, University of Montreal, Montreal, H3C 3J7, QC, Canada.ORCID http://orcid.org/0000-0001-9713-7107
Chitra PrasadChildren's Health Research Institute, London, N6A 5W9, ON, Canada.
Victoria Mok SiuChildren's Health Research Institute, London, N6A 5W9, ON, Canada.
Lauren BradyDepartment of Pediatrics, McMaster University, Hamilton, L8P 1A2, ON, Canada.
Mark A TarnopolskyDepartment of Pediatrics, McMaster University, Hamilton, L8P 1A2, ON, Canada.
David J CallenDepartment of Pediatrics, McMaster University, Hamilton, L8P 1A2, ON, Canada.
A Micheil InnesDepartment of Medical Genetics, Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, T3B 6A8, AB, Canada.ORCID http://orcid.org/0000-0001-9881-5467
Susan M WhiteDepartment of Paediatrics, University of Melbourne, Melbourne, 3052, VIC, Australia.
Wendy S MeschinoGenetics Program, North York General Hospital, Toronto, M2K 1E1, ON, Canada.
Andrew Y ShuenChildren's Health Research Institute, London, N6A 5W9, ON, Canada.
Guillaume ParéDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, L8P 1A2, ON, Canada.
Dennis E BulmanChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada.
Peter J AinsworthDepartment of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.
Hanxin LinDepartment of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.
David I RodenhiserChildren's Health Research Institute, London, N6A 5W9, ON, Canada.
Raoul C HennekamDepartment of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, 1012 WX, The Netherlands.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada.
Charles E SchwartzGreenwood Genetic Center, Greenwood, 29646, SC, USA.
Bekim SadikovicDepartment of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada. Bekim.Sadikovic@lhsc.on.ca.
Western University · CAChildren’s Health Research Institute · CAMcMaster University · CAUniversity of Ottawa · CABaylor College of Medicine · USAmsterdam UMC Location University of Amsterdam · NLGreenwood Genetic Center · USLondon Health Sciences Centre · CANorth York General Hospital · CAThe University of Melbourne · AUUniversité de Montréal · CAUniversity of Calgary · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Coffin-Siris and Nicolaides-Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures in individuals with various subtypes of CSS (ARID1B, SMARCB1, and SMARCA4) and NCBRS (SMARCA2). We demonstrate that the degree of similarity in the epi-signatures of some CSS subtypes and NCBRS can be greater than that within CSS, indicating a link in the functional basis of the two syndromes. We show that chromosome 6q25 microdeletion syndrome, harboring ARID1B deletions, exhibits a similar CSS/NCBRS methylation profile. Specificity of this epi-signature was confirmed across a wide range of neurodevelopmental conditions including other chromatin remodeling and epigenetic machinery disorders. We demonstrate that a machine-learning model trained on this DNA methylation profile can resolve ambiguous clinical cases, reclassify those with variants of unknown significance, and identify previously undiagnosed subjects through targeted population screening.

Indexed as

DNA MethylationAbnormalities, MultipleChromatin Assembly and DisassemblyChromosomal Proteins, Non-HistoneDNA-Binding ProteinsDNA HelicasesEpigenesis, GeneticEpigenomicsFaceFaciesFoot Deformities, CongenitalHand Deformities, CongenitalHumansHypotrichosisIntellectual DisabilityMicrognathismARID1B protein, humanChromosomal Proteins, Non-HistoneDNA-Binding ProteinsDNA HelicasesNuclear ProteinsSMARCA2 protein, humanSMARCA4 protein, humanSMARCB1 ProteinSMARCB1 protein, humanSWI-SNF-B chromatin-remodeling complexTranscription Factors

Identifiers

PMID30459321
PMCPMC6244416
OpenAlexW2900595482

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.