Evidence map›Paper›PMID 34946839›Full record

ArticleGenes2021

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.

Luigia De Falco, Carmelo Piscopo, Rossana D'Angelo, Eloisa Evangelista, Teresa Suero, Roberto Sirica, Raffaella Ruggiero, Giovanni Savarese, Antonella Di Carlo, Giulia Furino and 2 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Review
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

12 authors at 1 institution in 1 country.

Luigia De FalcoAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.ORCID 0000-0002-0553-2087
Carmelo PiscopoMedical and Laboratory Genetic Unit, A. Cardarelli Hospital, 80131 Naples, Italy.
Rossana D'AngeloAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Eloisa EvangelistaAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Teresa SueroAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Roberto SiricaAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Raffaella RuggieroAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Giovanni SavareseAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Antonella Di CarloAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Giulia FurinoAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Ciro ScarpatoAmbulatorio Medicina Prenatale, PO S. Giuliano, 80014 Naples, Italy.
Antonio FicoAMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.
Fatebenefratelli Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the

Indexed as

17-Hydroxysteroid DehydrogenasesAdultCell-Free Nucleic AcidsDisorder of Sex Development, 46,XYExome SequencingFemaleGenetic TestingGonadal Dysgenesis, 46,XYHigh-Throughput Nucleotide SequencingHomozygoteHumansMutationPhenotypePregnancyPrenatal DiagnosisSexual Development17-Hydroxysteroid DehydrogenasesCell-Free Nucleic Acids17β-hydroxysteroid dehydrogenase deficiencyHSD17B3 genenon-invasive prenatal testing (NIPT)sex discordancewhole exome sequencing (WES)

Identifiers

PMID34946839
PMCPMC8700836
OpenAlexW3215059746

What OpenQuestion 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 OpenQuestion graph.