Evidence map›Paper›PMID 42591937›Full record

ArticleJCEM case reports2026

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies.

Marwa Daghsni, Fen Guo, RaeLynn Forsyth, Miguel Reyes-Múgica, Svetlana A Yatsenko, Selma Feldman Witchel

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in JCEM case reports, 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

6 authors.

Marwa DaghsniDepartment of Pathology, University of Pittsburgh, Pittsburgh, PA 15213, USA.
Fen GuoDepartment of Obstetrics Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA 15213, USA.
RaeLynn ForsythDivision of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.ORCID https://orcid.org/0000-0001-8264-6240
Miguel Reyes-MúgicaDivision of Pediatric and Perinatal Pathology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.ORCID https://orcid.org/0000-0001-5698-3702
Svetlana A YatsenkoDepartment of Pathology, Stanford University, Stanford, CA 94303, USA.ORCID https://orcid.org/0000-0003-4809-8601
Selma Feldman WitchelDivision of Pediatric Endocrinology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.ORCID https://orcid.org/0000-0001-5178-5897

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In individuals with a 46,XY karyotype, heterozygous

Indexed as

campomelic dysplasiaDSDgenome sequencingOGMsex reversalSOX9 regulatory sequencesstructural rearrangement

Identifiers

PMID42591937
PMCPMC13462788

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.