Evidence map›Paper›PMID 39479520›Full record

ArticleJournal of the Endocrine Society2024

Population-Based Study of Rare Coding Variants in

Chrysanthi Kouri, Raina Y Jia, Katherine A Kentistou, Eugene J Gardner, John R B Perry, Christa E Flück, Ken K Ong

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of the Endocrine Society, 2024. 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. Population-Based Study of Rare Coding Variants inJournal of the Endocrine Society · 2024
    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

7 authors.

Chrysanthi KouriDepartment of Pediatrics, Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.ORCID https://orcid.org/0000-0002-7225-593X
Raina Y JiaMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
Katherine A KentistouMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
Eugene J GardnerMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
John R B PerryMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
Christa E FlückDepartment of Pediatrics, Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.ORCID https://orcid.org/0000-0002-4568-5504
Ken K OngMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.ORCID https://orcid.org/0000-0003-4689-7530

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Steroidogenic Factor 1/Nuclear Receptor Subfamily 5 Group A Member 1 (SF-1/ Methods: We analyzed health records and exome sequencing data from up to 420 162 individuals (227 858 women) from the UK Biobank study to assess the impact of rare (frequency < 0.1%) predicted deleterious Results: No carriers of rare protein truncating variants in Conclusion: Deleterious missense variants in the DBD and LBD likely disrupt

Indexed as

differences of sex development (DSD)obesitysteroidogenic factor 1 (SF-1/NR5A1)UK Biobank (UKBB)whole exome sequencing (WES)

Identifiers

PMID39479520
PMCPMC11521259

What OpenQuestion holds

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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.