Evidence map›Paper›PMID 40843169›Full record

ArticleFrontiers in cell and developmental biology2025

Haploinsufficiency of

Caroline M Kolvenbach, Öznur Yilmaz, Filipa M Lopes, Jeshurun C Kalanithy, Katharina Lemberg, Vineeta Sharma, Amar J Majmundar, Matthias Geyer, Adrian S Woolf, Friedhelm Hildebrandt and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in cell and developmental biology, 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

12 authors.

Caroline M KolvenbachDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Öznur YilmazMedical Faculty, Institute of Neuroanatomy, University of Bonn, Bonn, Germany.
Filipa M LopesDivision of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, MA, United Kingdom.
Jeshurun C KalanithyMedical Faculty, Institute of Anatomy and Cell Biology, University of Bonn, Bonn, Germany.
Katharina LembergDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Vineeta SharmaDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Amar J MajmundarDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Matthias GeyerMedical Faculty, Institute of Structural Biology, University of Bonn, Bonn, Germany.
Adrian S WoolfDivision of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, MA, United Kingdom.
Friedhelm HildebrandtDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Benjamin OdermattMedical Faculty, Institute of Anatomy and Cell Biology, University of Bonn, Bonn, Germany.
Heiko ReutterDivision of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.

Funding

Delineation of pathogenic mechanisms of NOS1AP and TRIM8 mutations in monogenic SRNS/FSGS.K08DK125768 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI MAJMUNDAR, AMAR J · 2021 to 2025
$841k
NIDDK NIH HHS K08 DK125768
6 · The paper itself

Abstract

Omphalocele is a rare birth defect of the abdominal wall that results in herniation of the visceral organs through the umbilicus. To date, there are no identified genetic causes for non-syndromic isolated omphalocele. Exome sequencing in a four-generation multiplex family with isolated dominant omphalocele revealed a novel extended splice site variant (c.310 + 3A>C; p.?) in

Indexed as

ABL1dominantexome sequencinghaploinsufficiencyomphalocele

Identifiers

PMID40843169
PMCPMC12365408

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.