Evidence map›Paper›PMID 41803176›Full record

ArticleNPJ genomic medicine2026

Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.

Michal Stawarski, Noa Bielopolski, Ilana Roitman, Karen Fridman, Shane Wald-Altman, Megan Eitel, Benedict Hui, Anneke Vulto-van Silfhout, Alexander P A Stegmann, Adela Chirita-Emandi and 10 more

Abstract read
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In one paragraph

Article in NPJ genomic medicine, 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.

Michal StawarskiDepartment of Biomedicine, University of Basel, Basel, Switzerland.
Noa BielopolskiQR Genetics, Tel Aviv, Israel.
Ilana RoitmanQR Genetics, Tel Aviv, Israel.
Karen FridmanQR Genetics, Tel Aviv, Israel.
Shane Wald-AltmanQR Genetics, Tel Aviv, Israel.
Megan EitelValley Children's Clinic, Renton, WA, USA.
Benedict HuiMultiCare Center for Weight Loss & Wellness, Covington, WA, USA.
Anneke Vulto-van SilfhoutDepartment of Clinical Genetics, Maastricht UMC+, Maastricht, the Netherlands.
Alexander P A StegmannDepartment of Clinical Genetics, Maastricht UMC+, Maastricht, the Netherlands.
Adela Chirita-EmandiCenter of Genomic Medicine, University of Medicine and Pharmacy "Victor Babes", Timisoara, Romania.
Jacqueline EasonDepartment of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, England.
Kirsty BradshawEast Midlands Regional Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, England.
Lewis DarnellEast Midlands Regional Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, England.
Grażyna KostrzewaDepartment of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Rafal PloskiDepartment of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Romane MeursMedigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
Amandine BattéMedigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
Stylianos E AntonarakisMedigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
Martin GassmannDepartment of Biomedicine, University of Basel, Basel, Switzerland.
Bernhard BettlerDepartment of Biomedicine, University of Basel, Basel, Switzerland. bernhard.bettler@unibas.ch.

Funding

Health Innovation Challenge Fund HICF-1009-003Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung 31003A-152970
6 · The paper itself

Abstract

GABA

Identifiers

PMID41803176
PMCPMC13103378

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.