Evidence map›Paper›PMID 40636818›Full record

ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2025

Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing.

Erika Uehara, Kazuhisa Akiba, Keiko Matsubara, Maki Fukami, Kanako Tanase-Nakao

Abstract read
In one paragraph

Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 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

5 authors.

Erika UeharaDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kazuhisa AkibaDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Keiko MatsubaraDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Maki FukamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kanako Tanase-NakaoDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rapid genetic diagnosis of differences/disorders of sex development (DSD) through minimally invasive testing is desirable. In this study, we performed PCR amplicon-based next-generation sequencing (NGS) targeting

Indexed as

46,XY differences/disorders of sex developmentdried blood spotnext-generation sequencing

Identifiers

PMID40636818
PMCPMC12236167

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.