Human sex development: targeted technologies to improve diagnosis.

Federica Buonocore, John C Achermann

Abstract readComment

In one paragraph

Article in Genome biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it

0cells of the map it votes in

5citing 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

5 citing papers in PubMed.

Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development.Biology of sex differences · 2024
Article
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings.Frontiers in endocrinology · 2022
Article
Translating genomics to the clinical diagnosis of disorders/differences of sex development.Current topics in developmental biology · 2019
Review
New technologies to uncover the molecular basis of disorders of sex development.Molecular and cellular endocrinology · 2018
Review
Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.Annals of pediatric endocrinology & metabolism · 2017
Review

4 · The record

Corrections and comments

Comment on
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.2016

5 · Who and what money

Authors and funding

2 authors.

Federica BuonocoreGenetics and Genomic Medicine, UCL Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

John C AchermannGenetics and Genomic Medicine, UCL Great Ormond Street Institute for Child Health, 30 Guilford Street, London, WC1N 1EH, UK. j.achermann@ucl.ac.uk.

Funding

Wellcome Trust 098513/Z/12/Z

6 · The paper itself

Abstract

A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis.Please see related Research article: http://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-1105-y .

Indexed as

High-Throughput Nucleotide SequencingSex Determination ProcessesDisorders of Sex DevelopmentFemaleGenetic TestingGonadal DysgenesisHumansMaleDisorders of sex developmentDSDGenetic testingGonadal dysgenesisHaloplexSex determination

Identifiers

PMID27978845

DOI10.1186/s13059-016-1128-4

PMCPMC5159992

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.