Evidence map›Paper›PMID 28476235›Full record

ReviewEndocrinology and metabolism clinics of North America2017

Genetics of Disorders of Sex Development: The DSD-TRN Experience.

Emmanuèle C Délot, Jeanette C Papp, DSD-TRN Genetics Workgroup, David E Sandberg, Eric Vilain

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Endocrinology and metabolism clinics of North America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing 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

39 citing papers in PubMed.

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  10. 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.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025
    Article
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  17. A massive alteration of gene expression in undescended testicles of dogs and the association ofProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
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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.

Emmanuèle C DélotDepartments of Human Genetics and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Room 5301A, 695 Charles East Young Drive South, Los Angeles, CA 90095, USA. Electronic address: edelot@ucla.edu.
Jeanette C PappDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Room 5506, 695 Charles East Young Drive South, Los Angeles, CA 90095, USA.
DSD-TRN Genetics Workgroup
David E SandbergDivision of Pediatric Psychology, Department of Pediatrics & Communicable Diseases and the Child Health Evaluation and Research Center, University of Michigan Medical School, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA.
Eric VilainDepartments of Human Genetics, Urology, and Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Room 4554B, 695 Charles East Young Drive South, Los Angeles, CA 90095, USA.

Funding

Disorders of Sex Development: Platform for Basic and Translational ResearchR01HD068138 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SANDBERG, DAVID ERIC, VILAIN, ERIC J. · 2011 to 2015
$4.0M
NICHD NIH HHS R01 HD068138
6 · The paper itself

Abstract

Although many next-generation sequencing platforms are being created around the world, implementation is facing multiple hurdles. A strong hurdle to the full adherence of clinical teams to the Disorders of Sex Development Translational Research Network (DSD-TRN) guidelines for standardization of reporting and practice is the current lack of integration of the standardized clinical forms into the various electronic medical records at different sites. Time allocated to research is also limited. In spite of these hurdles, genetic information for half the enrolled patients is already available in the DSD-TRN registry, and early results demonstrate the value of such an infrastructure.

Indexed as

Disorders of Sex DevelopmentElectronic Health RecordsHumansRegistriesTranslational Research, BiomedicalDisorders of sex developmentGenomic sequencingGenotypePhenotype

Identifiers

PMID28476235
PMCPMC5714504

What OpenQuestion holds

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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.