Evidence map›Paper›PMID 40518603›Full record

ArticleClinical genetics2025

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling.

Mathis Hildonen, Marco Ferilli, Ilona Krey, Oona Kohnen, Camilla Cappelletti, Konrad Platzer, Andrea Ciolfi, Rami Abou Jamra, Marco Tartaglia, Zeynep Tümer

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

10 authors.

Mathis HildonenDepartment of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.ORCID https://orcid.org/0000-0002-2016-3670
Marco FerilliMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Ilona KreyInstitute of Human Genetics, University of Leipzig Medical Center, Germany.
Oona KohnenSwiss Epilepsy Center, Clinic Lengg AG, Zürich, Switzerland.
Camilla CappellettiMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, Germany.ORCID https://orcid.org/0000-0001-6127-6308
Andrea CiolfiMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Germany.
Marco TartagliaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0001-7736-9672
Zeynep TümerDepartment of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.ORCID https://orcid.org/0000-0002-4777-5802

Funding

Fonden for Neurologisk Forskning R90-A4422Italian Ministry of Health PNRR-MR1-2022-12376811Italian Ministry of Health RF-2021-12374963Italian Ministry of Research FOE_2020Region Hovedstadens Forskningsfond til Sundhedsforskning 2024-0059
6 · The paper itself

Abstract

Hypothesis-free DNA methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighting the diagnostic potential of single-patient epigenetic screening (right panel).

Indexed as

Angelman syndromearrayDNAm signatureepigeneticepisignaturemethylationundiagnosed

Identifiers

PMID40518603
PMCPMC12319138

What OpenQuestion holds

Textmetadata
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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.