Evidence map›Paper›PMID 41438615›Full record

ArticleGenetics research2025

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.

Matthias Begemann, Johannes Alexander Tobias Boy, Florian Kraft, Hendrik Vossschulte, Winfried Barthlen, Sebastian Kummer, Thorsten Orlikowsky, Adrin Torosoglu, Thomas Eggermann, Ingo Kurth and 2 more

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

Article in Genetics research, 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.

Matthias BegemannCenter for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.ORCID 0000-0002-4659-8437
Johannes Alexander Tobias BoyDepartment of Pediatrics, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.
Florian KraftCenter for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.
Hendrik VossschultePediatric Surgery and Urology, Children's and Youth Hospital Auf der Bult, Hannover, Germany.
Winfried BarthlenDepartment of Pediatric Surgery, Protestant Hospital of Bethel Foundation, University Hospital OWL, Campus Bielefeld Bethel, University of Bielefeld, Bielefeld, Germany, uni-bielefeld.de.
Sebastian KummerDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany, uni-duesseldorf.de.
Thorsten OrlikowskyDepartment of Pediatrics, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.
Adrin TorosogluSt. Josef-Stift Hospital Sendenhorst, Sendenhorst, Germany.
Thomas EggermannCenter for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.ORCID 0000-0002-8419-0264
Ingo KurthCenter for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.
Miriam ElbrachtCenter for Human Genetics and Genomic Medicine, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.ORCID 0000-0001-5088-1369
Angeliki PappaDepartment of Pediatrics, Faculty of Medicine, RWTH Aachen University, Aachen, Germany, rwth-aachen.de.ORCID 0000-0002-6006-0326

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This case study examines a preterm newborn with autosomal recessive

Indexed as

Clinical Decision-MakingCongenital HyperinsulinismGenetic TestingSulfonylurea ReceptorsFemaleHumansInfant, NewbornMaleMutationABCC8 protein, humanSulfonylurea Receptorscomprehensive geneticcongenital hyperinsulinismlong-read sequencingneonatal hypoglycemiatherapeutic algorithm in CHI

Identifiers

PMID41438615
PMCPMC12721746

What OpenQuestion holds

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Registered trials

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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.