Evidence map›Paper›PMID 41438488›Full record

ArticleHuman mutation2025

Homozygous Deletion of the Epigenetic Regulator

Shira Yanovsky Dagan, Hongwen Xuan, Jonathan Rips, Emuna Paz-Ebstein, Talia Baer, Shira Gross, Ayala Frumkin, Xiaobing Shi, Tamar Harel

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 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

9 authors.

Shira Yanovsky DaganDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel, hadassah.org.il.
Hongwen XuanDepartment of Epigenetics, Van Andel Institute, Grand Rapids, Michigan, USA, vai.org.
Jonathan RipsDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel, hadassah.org.il.ORCID https://orcid.org/0000-0002-9237-8929
Emuna Paz-EbsteinDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel, hadassah.org.il.
Talia BaerFaculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, huji.ac.il.
Shira GrossDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel, hadassah.org.il.
Ayala FrumkinDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel, hadassah.org.il.
Xiaobing ShiDepartment of Epigenetics, Van Andel Institute, Grand Rapids, Michigan, USA, vai.org.
Tamar HarelDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel, hadassah.org.il.ORCID https://orcid.org/0000-0003-3595-7075

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Epigenesis, GeneticHomozygoteNeurodevelopmental DisordersSequence DeletionChildChild, PreschoolExome SequencingFemaleHumansMalePedigreePhenotypeAlu–Alu-mediated deletionexome sequencingH4K16 acetylationneurodevelopmental syndromePHF20

Identifiers

PMID41438488
PMCPMC12721337

What Socratic 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 Socratic graph.