Evidence map›Paper›PMID 41799441›Full record

ArticleFrontiers in cell and developmental biology2026

Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome.

Liselot van der Laan, Rob Zwart, Andrea Venema, Adri N Mul, Martin A Haagmans, Bart Hulsbosch, David Dyment, Irene Valenzuela, Pilar Caro, Sebastian Sailer and 6 more

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Article in Frontiers in cell and developmental biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

16 authors.

Liselot van der LaanDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Rob ZwartDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Andrea VenemaDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Adri N MulDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Martin A HaagmansDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Bart HulsboschDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
David DymentChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Irene ValenzuelaÀrea de Genètica Clínica i Malalties Minoritàries, Hospital Vall d'Hebron, Barcelona, Spain.
Pilar CaroInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Sebastian SailerInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Christian P SchaafInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Bekim SadikovicLondon Health Science Centre, Verspeeten Clinical Genome Centre, London, ON, Canada.
Marcel M A M MannensDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Mieke M van HaelstDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Manasa Kalya Purushothama *Department of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.
Peter HennemanDepartment of Human Genetics, Amsterdam UMC, Amsterdam, Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hao-Fountain syndrome (HAFOUS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic Methods: We performed genome-wide DNA methylation profiling, RNA sequencing, and cis expression quantitative trait methylation (eQTM) analysis in whole blood (n = 9) and patient-derived skin fibroblasts (n = 4). Differential methylation was assessed and methylation-expression coupling within ±250 kb of each DMR. DMRs were further interpreted using BCOR, H2AK119ub1, and H3K27me3 ChIP-Rx datasets from neural models. Results: Blood reproduced the established Conclusion:

Indexed as

BCORDNA methylationeQTMgene expressionH2AK119ub1Hao–Fountain syndromehox genesPRC1.1

Identifiers

PMID41799441
PMCPMC12963275

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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.