Evidence map›Paper›PMID 28031288›Full record

ArticleHuman molecular genetics2016

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

Anu Bashamboo, Patricia A Donohoue, Eric Vilain, Sandra Rojo, Pierre Calvel, Sumudu N Seneviratne, Federica Buonocore, Hayk Barseghyan, Nathan Bingham, Jill A Rosenfeld and 17 more

Abstract readPublished Erratum
PubMed Full text at PMC Publisher
In one paragraph

Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (Proceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. The p.R92W variant ofBiology of sex differences · 2016
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Anu BashambooHuman Developmental Genetics, Institut Pasteur, Paris, 75724 France.
Patricia A DonohoueDepartment of Pediatrics, Endocrinology & Diabetes, Medical college of Wisconsin, Milwaukee, WI, USA.
Eric VilainDepartments of Human Genetics, Pediatrics and Urology, David Geffen School of Medicine at UCLA, CA, USA.
Sandra RojoHuman Developmental Genetics, Institut Pasteur, Paris, 75724 France.
Pierre CalvelHuman Developmental Genetics, Institut Pasteur, Paris, 75724 France.
Sumudu N SeneviratneDepartment of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.
Federica BuonocoreGenetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
Hayk BarseghyanDepartment of Human Genetics, David Geffen School of Medicine at UCLA, CA, USA.
Nathan BinghamDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Vanderbilt University, Nashville, TN, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, TX.
Surya Narayan MulukutlaDepartment of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA.
Mahim JainDepartment of Molecular and Human Genetics, Baylor College of Medicine, TX.
Lindsay BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, TX.
Shweta DharDepartment of Molecular and Human Genetics, Baylor College of Medicine, TX.
Ashok BalasubramanyamDepartment of Medicine, Division of Diabetes, Endocrinology and Metabolism, Baylor College of Medicine, Houston TX, USA.
Brendan LeeDepartment of Molecular and Human Genetics, Baylor College of Medicine, TX.
Members of UDN
Marie-Charlotte DumargneHuman Developmental Genetics, Institut Pasteur, Paris, 75724 France.
Caroline EozenouHuman Developmental Genetics, Institut Pasteur, Paris, 75724 France.
Jenifer P SuntharalinghamGenetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
Ksh de SilvaDepartment of Pediatrics, Faculty of Medicine, University of Colombo, Colombo 08, Sri Lanka.
Lin LinGenetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.
Joelle Bignon-TopalovicHuman Developmental Genetics, Institut Pasteur, Paris, 75724 France.
Francis PoulatGenetic and Development Department, Institute of Human Genetics, CNRS, Montpellier, France.
Carlos F LagosDepartment of Endocrinology, Pontificia Universidad Católica de Chile, and Universidad San Sebastián, Santiago, Chile.
Ken McElreaveyHuman Developmental Genetics, Institut Pasteur, Paris, 75724 France.
John C AchermannGenetics & Genomic Medicine, UCL Institute of Child Health, University College London, London, UK.

Funding

UCLA clinical site for the investigation of undiagnosed disordersU01HG007703 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2014 to 2022
$10.1M
Clinical Genome Wide Sequencing Core for the Undiagnosed Disease NetworkU01HG007943 · NHGRI · MEDICAL COLLEGE OF WISCONSIN · PI WORTHEY, ELIZABETH A · 2014 to 2017
$4.1M
NHGRI NIH HHS U01 HG007703NHGRI NIH HHS U01 HG007943
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID28031288
PMCPMC5886042

What OpenQuestion holds

Textmetadata
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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.