Evidence map›Paper›PMID 42494517›Full record

ArticleGenetics in medicine open2026

Broadening the inherited

Emily Woods, Nicola Holmes, Catherine Gooch, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Marie Vincent, Efterpi Pavlidou, Athina Ververi, Virginie J M Verhoeven, Marjon A van Slegtenhorst and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 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

13 authors.

Emily WoodsSheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom.
Nicola HolmesSheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom.
Catherine GoochWashington University, St Louis, WA.
Anne-Sophie Denommé-PichonUniversité Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.
Antonio VitobelloUniversité Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.
Marie VincentCentre Hospitalier Regional Universitaire De Dijon, Dijon, France/Service de Génétique Médicale, CHU de Nantes, Nantes, France.
Efterpi PavlidouDepartment of Paediatric Speech and Language Therapy, University of Ionnina, Ionnina Greece.
Athina VerveriDepartment of Genetics for Rare Diseases, Papageorgiou General Hospital, Thessaloniki, Greece.
Virginie J M VerhoevenDepartment of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
Marjon A van SlegtenhorstDepartment of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
Abhijit DixitNottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, United Kingdom.
Ajoy SarkarNottingham Clinical Genetics Service, Nottingham City Hospital, Nottingham, United Kingdom.
Meena BalasubramanianSheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Methods: In this study, we conducted a detailed genotype-phenotype review of 204 individuals from the literature, including the International ASXL3 Natural History Study (IRAS: 316055). Statistical comparisons were made between individuals with variants leading to no protein product (nonsense-mediated messenger RNA decay [NMD], Results: Microcephaly, sleep apnea, hyperventilation, and feeding tube use had a statistically increased prevalence in the NMD and MCR1 groups. Intellectual disability and global developmental delay were more severe in the NMD and MCR1 groups and were significant for the MCR1/MCR2 comparison ( Conclusion: We describe extensive phenotypic variability through the largest-to-date series of families with inherited pathogenic or likely pathogenic

Indexed as

ASXL3Bainbridge-RopersGenotype-phenotypeMechanismsMolecular

Identifiers

PMID42494517
PMCPMC13393785

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.