Evidence map›Paper›PMID 32638125›Full record

ReviewHuman genetics2021

Disease gene discovery in male infertility: past, present and future.

M J Xavier, A Salas-Huetos, M S Oud, K I Aston, J A Veltman

Open access · hybridAbstract readReview
In one paragraph

Review in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
53citing papers in PubMed, 1 pooled it
11.9field-weighted citation impact, top 1% 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

53 citing papers in PubMed, 1 synthesis or guideline pooled it, 97 citations in OpenAlex.

  1. Role ofAmerican journal of men's health
    Pooled it
  2. Trial
  3. Article
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Case Report: A homozygous mutation in theFrontiers in reproductive health · 2025
    Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Article
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 at 3 institutions in 3 countries.

M J XavierBiosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle-upon-Tyne, UK.ORCID http://orcid.org/0000-0003-0709-7223
A Salas-HuetosAndrology and IVF Laboratory, Department of Surgery (Urology), University of Utah, Salt Lake City, USA.ORCID http://orcid.org/0000-0001-5914-6862
M S OudDepartment of Human Genetics, Radboud University Medical Centre, Nijmegen, Netherlands.ORCID http://orcid.org/0000-0001-9513-3030
K I AstonAndrology and IVF Laboratory, Department of Surgery (Urology), University of Utah, Salt Lake City, USA. ki.aston@hsc.utah.edu.ORCID http://orcid.org/0000-0001-6459-2103
J A VeltmanBiosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle-upon-Tyne, UK. joris.veltman@newcastle.ac.uk.ORCID http://orcid.org/0000-0002-3218-8250
Newcastle University · GBUniversity of Utah · USRadboud University Nijmegen · NL

Funding

GENOMICS OF SPERMATOGENIC IMPAIRMENTR01HD078641 · NICHD · WASHINGTON UNIVERSITY · PI Kenneth Ivan Aston, DONALD F. CONRAD · 2014 to 2026
$6.3M
NICHD NIH HHS R01 HD078641Wellcome Trust 209451Wellcome Trust 209451/Z/17/Z
6 · The paper itself

Abstract

Identifying the genes causing male infertility is important to increase our biological understanding as well as the diagnostic yield and clinical relevance of genetic testing in this disorder. While significant progress has been made in some areas, mainly in our knowledge of the genes underlying rare qualitative sperm defects, the same cannot be said for the genetics of quantitative sperm defects. Technological advances and approaches in genomics are critical for the process of disease gene identification. In this review we highlight the impact of various technological developments on male infertility gene discovery as well as functional validation, going from the past to the present and the future. In particular, we draw attention to the use of unbiased genomics approaches, the development of increasingly relevant functional assays and the importance of large-scale international collaboration to advance disease gene identification in male infertility.

Indexed as

AnimalsGenetic Association StudiesGenetic TestingGenomicsHumansInfertility, MaleMaleSpermatozoa

Identifiers

PMID32638125
PMCPMC7864819
OpenAlexW3041095993

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.