Evidence map›Paper›PMID 41153407›Full record

ArticleGenes2025

Familial

Sunwoo Liv Lee, Alison Foster, Dalit May, Ciara Batterton, Eguzkine Ochoa, Bryndis Yngvadottir, Ruth Armstrong, Meena Balasubramanian, Mary O'Driscoll, Marc Tischkowitz and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Sunwoo Liv LeeDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID 0000-0003-2806-3268
Alison FosterClinical Genetics Unit, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.
Dalit MayDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID 0009-0003-1850-6595
Ciara BattertonWest Midlands Genomics Laboratory, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.
Eguzkine OchoaDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
Bryndis YngvadottirDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID 0000-0002-7429-2961
Ruth ArmstrongDepartment of Clinical Genetics, Cambridge University Hospitals NHS Trust, Cambridge CB2 0QQ, UK.
Meena BalasubramanianDivision of Clinical Medicine, University of Sheffield, Sheffield S10 2RX, UK.ORCID 0000-0003-1488-3695
Mary O'DriscollClinical Genetics Unit, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.
Marc TischkowitzDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID 0000-0002-7880-0628
France DocquierDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
Fay RodgerDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
Ezequiel MartinDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
Ana ToribioDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID 0009-0004-4893-2584
Eamonn R MaherDepartment of Genomic Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID 0000-0002-6226-6918

Funding

EpiGenRare MRC Rare Diseases Node MR/Y008170/1NIHR Cambridge Biomedical Research Centre BRC-1215-20014NIHR Rare Disease Translational Research Collaboration Award to Alison FosterRosetrees Trust PhDplus award
6 · The paper itself

Abstract

backgroundGermline pathogenic variants in

methodsDNA episignature profiling was undertaken with a next generation sequencing-based approach.

resultsWithin the family, the three affected individuals showed clinical variability with the proband being most severely affected, although none showed unequivocal macrocephaly or the characteristic facial features of Sotos syndrome. DNA methylation profiling was performed in the three affected family members, eight individuals with Sotos syndrome, and compared to control samples. The eight individuals with Sotos syndrome displayed genome-wide hypomethylation as previously described. DNA hypomethylation was also apparent in the three family members with the

conclusionsA familial germline exon 3

Indexed as

Epigenesis, GeneticHistone-Lysine N-MethyltransferaseSequence DeletionSotos SyndromeAdolescentAdultChildChild, PreschoolDNA MethylationExonsFemaleHumansMalePedigreePhenotypeHistone-Lysine N-MethyltransferaseNSD1 protein, humanatypical sotos syndromedevelopmental disorderDNA methylationepisignatureNSD1sotos syndrome

Identifiers

PMID41153407
PMCPMC12563888

What OpenQuestion holds

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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.