Evidence map›Paper›PMID 40162297›Full record

ArticleJCEM case reports2025

A Novel De Novo Nonsense Pathogenic Variant in

James Blackburn, Banupriya Sivasanker, Shahida Ahmed, Birgit van Meijgaarden, Marta Korbonits, Evelien Gevers

Abstract readCase Reports
In one paragraph

Article in JCEM case reports, 2025. 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

6 authors.

James BlackburnDepartment of Paediatric Endocrinology and Diabetes, Barts Health NHS Trust, Royal London Hospital, Whitechapel, London E1 1BB, UK.ORCID https://orcid.org/0000-0003-0744-5275
Banupriya SivasankerDepartment of Paediatric Endocrinology and Diabetes, Barts Health NHS Trust, Royal London Hospital, Whitechapel, London E1 1BB, UK.
Shahida AhmedBasildon University Hospital, Mid and South Essex NHS Foundation Trust, Nethermayne, Basildon, Essex SS16 5NL, UK.
Birgit van MeijgaardenBasildon University Hospital, Mid and South Essex NHS Foundation Trust, Nethermayne, Basildon, Essex SS16 5NL, UK.
Marta KorbonitsCentre for Endocrinology, Queen Mary University of London, London EC1M 6BQ, UK.ORCID https://orcid.org/0000-0002-4101-9432
Evelien GeversDepartment of Paediatric Endocrinology and Diabetes, Barts Health NHS Trust, Royal London Hospital, Whitechapel, London E1 1BB, UK.ORCID https://orcid.org/0000-0002-4397-4126

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The main features of immunoglobulin superfamily, member 1 (

Indexed as

central hypothyroidismdelayed pubertyhypogonadismmacroorchidismobesitytall stature

Identifiers

PMID40162297
PMCPMC11952286

What Socratic 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 Socratic graph.