Evidence map›Paper›PMID 42434347›Full record

ArticleFrontiers in genetics2026

A role for

Dmitrijs Rots, Beatriz Cristina de Oliveira, Laura Machado Lara Carvalho, Xiaonan Zhao, Bekim Sadikovic, Teresa Sim, Robert Rigobello, Matthew Tedder, Sarah Donoghue, Devi Priyanka Maripuri and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2026. 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

20 authors.

Dmitrijs Rots *Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands.
Beatriz Cristina de Oliveira *Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil.
Laura Machado Lara CarvalhoDepartment of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil.
Xiaonan ZhaoBaylor Genetics, Houston, TX, United States.
Bekim SadikovicVerspeeten Clinical Genome Center, London Health Sciences Center, London, ON, Canada.
Teresa SimBaylor Genetics, Houston, TX, United States.
Robert RigobelloBaylor Genetics, Houston, TX, United States.
Matthew TedderGreenwood Genetic Center, Greenwood, SC, United States.
Sarah DonoghueDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Devi Priyanka MaripuriDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Ales HnizdaResearch Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czechia.
Eileen BarrBaylor Genetics, Houston, TX, United States.
Robin FletcherGreenwood Genetic Center, Greenwood, SC, United States.
Lenka NoskovaResearch Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czechia.
Dong LiDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Tjitske KleefstraDepartment of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands.
Elaine H ZackaiDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Maria J BarreroInstitute of Rare Diseases Research (IIER), Spanish National Institute of Health Carlos III (ISCIII), Madrid, Spain.
Ana Cristina Victorino Krepischi *Department of Genetics and Evolutionary Biology, Institute of Biosciences, Human Genome and Stem Cell Research Center, University of Sao Paulo (USP), Sao Paulo, Brazil.
Alanna Strong *Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

Funding

Novel gene discovery in disorders of the liver and biliary treeK08DK128606 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI Alanna Strong · 2022 to 2026
$821k
NIDDK NIH HHS K08 DK128606
6 · The paper itself

Abstract

Background: Methods: A male proband was referred for Genetics evaluation due to global developmental delay, autism spectrum disorder, hypotonia, dysmorphisms, posterior fossa malformation, congenital heart disease, umbilical hernia, and genitourinary anomalies. Trio genome sequencing identified compound heterozygous variants in Results: Proband phenotype strongly overlapped with that of KS1 and previously reported individuals with autosomal dominant and recessive Conclusion: Our findings support a role for

Indexed as

candidate genecase reportEHMT2Kleefstra syndromemulti-omics

Identifiers

PMID42434347
PMCPMC13350482

What OpenQuestion 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 OpenQuestion graph.