Evidence map›Paper›PMID 40730689›Full record

ArticleEuropean journal of human genetics : EJHG2025

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Daphne J Smits, Christophe Debuy, Alice S Brooks, Rachel Schot, Federico Ferraro, Dmitrijs Rots, Arjan Bouman, Virginie J M Verhoeven, Laura Donker Kaat, Sarina G Kant and 24 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2025. 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
–field-weighted citation impact
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.

  1. Review
  2. To sign or not to sign: Is this still the question?European journal of human genetics : EJHG · 2026
    Article
  3. Uncertainty, ethics, and progress in genomic medicine.European journal of human genetics : EJHG · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

34 authors.

Daphne J Smits *Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. d.smits@erasmusmc.nl.
Christophe Debuy *Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Alice S BrooksDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Rachel SchotDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID 0000-0001-9578-4095
Federico FerraroDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID 0000-0003-1365-2529
Dmitrijs RotsDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Arjan BoumanDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Virginie J M VerhoevenDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID 0000-0001-7359-7862
Laura Donker KaatDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Sarina G KantDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Yolande van BeverDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Serwet DemirdasDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID 0000-0001-5496-4153
Shimriet ZeidlerDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Marieke F van DoorenDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Stephany H DonzeDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Lies H HoefslootDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID 0009-0000-3444-9955
Marjon A van SlegtenhorstDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Martina WilkeDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Frank SleutelsDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID 0000-0001-6813-5209
Mark DrostDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Hennie T BrüggenwirthDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID 0000-0003-4303-8896
Rick van MinkelenDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Anne GoverdeDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Janna A HolDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Ingrid M B H van de LaarDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Yvette van IerlandDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Anneke KievitDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Vyne van der SchootDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID 0000-0001-9829-9220
Kyra E StuurmanDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Grazia M S ManciniDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Marja W WesselsDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Tjakko J van HamDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.ORCID 0000-0002-2175-8713
Tjitske KleefstraDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.ORCID 0000-0003-1231-1562

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Disease-causing variants in chromatin regulator genes cause many developmental disorders. DNA methylation (DNAm) signatures are emerging as a diagnostic tool to identify disease causes and classify variants of uncertain significance (VUS). This study evaluates their diagnostic utility in a routine clinical setting. We retrospectively analyzed 298 patients from the Erasmus MC who underwent DNAm signature testing using the commercial Episign

Indexed as

DNA MethylationGenetic TestingNeurodevelopmental DisordersAdolescentChildChild, PreschoolFemaleHumansInfantMaleRetrospective Studies

Identifiers

PMID40730689
PMCPMC12480637

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.