Evidence map›Paper›PMID 29231814›Full record

ArticleeLife2017

A homozygous

Baptiste Fouquet, Patrycja Pawlikowska, Sandrine Caburet, Celine Guigon, Marika Mäkinen, Laura Tanner, Marja Hietala, Kaja Urbanska, Laura Bellutti, Bérangère Legois and 7 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
6.4field-weighted citation impact, top 3% 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

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Double jeopardy: howFrontiers in cell and developmental biology · 2026
    Review
  6. Article
  7. Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025
    Article
  8. Article
  9. Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024
    Review
  10. Biallelic GermlineInternational journal of molecular sciences · 2024
    Article
  11. Premature ovarian insufficiency.Nature reviews. Disease primers · 2024
    Review
  12. Article
  13. [Homozygous Variant ofSichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024
    Article
  14. Article
  15. A Human HomozygousGenes · 2024
    Article
  16. Article
  17. Article
  18. Cell genomics · 2023
    Article
  19. Mechanisms of ovarian aging in women: a review.Journal of ovarian research · 2023
    Review
  20. Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023
    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

17 authors at 5 institutions in 2 countries.

Baptiste Fouquet *Faculté de Médecine, Université Paris Sud, Université Paris Saclay, Hôpital Bicêtre, Le Kremlin-Bicêtre, France.ORCID http://orcid.org/0000-0003-2069-1956
Patrycja Pawlikowska *CNRS UMR8200,Equipe labellisée La Ligue Contre Le Cancer, Université Paris Sud, Université Paris Saclay, Gustave Roussy, Vilejuif, France.
Sandrine CaburetInstitut Jacques Monod, Université Paris Diderot, Paris, France.ORCID http://orcid.org/0000-0002-7404-8213
Celine GuigonUniversité Paris-Diderot, CNRS, UMR 8251, INSERM, U1133, Paris, France.
Marika MäkinenDepartment of Clinical Genetics, Turku University Hospital, Turku, Finland.
Laura TannerDepartment of Clinical Genetics, Turku University Hospital, Turku, Finland.
Marja HietalaDepartment of Clinical Genetics, Turku University Hospital, Turku, Finland.
Kaja UrbanskaCNRS UMR8200, Université Paris Sud, Université Paris Saclay, Villejuif, France.
Laura BelluttiUMR967 INSERM, CEA/DRF/iRCM/SCSR/LDG, Université Paris Diderot, Sorbonne Paris Cité, Université Paris-Sud, Université Paris-Saclay, Fontenay aux Roses, France.
Bérangère LegoisInstitut Jacques Monod, Université Paris Diderot, Paris, France.
Bettina BessieresDepartment of Histology, Embryology and Cytogenetics, Hôpital Necker-enfants malades, Paris, France.
Alain GougeonUMR Inserm 1052, CNRS 5286, Faculté de Médecine Laennec, Lyon, France.
Alexandra BenachiDepartment of Obstetrics and Gynaecology, AP-HP, Université Paris-Sud, Université Paris-Saclay, Clamart, France.
Gabriel LiveraUMR967 INSERM, CEA/DRF/iRCM/SCSR/LDG, Université Paris Diderot, Sorbonne Paris Cité, Université Paris-Sud, Université Paris-Saclay, Fontenay aux Roses, France.ORCID http://orcid.org/0000-0001-8436-4730
Filippo RosselliCNRS UMR8200,Equipe labellisée La Ligue Contre Le Cancer, Université Paris Sud, Université Paris Saclay, Gustave Roussy, Vilejuif, France.ORCID https://orcid.org/0000-0003-1080-5745
Reiner A Veitia *Institut Jacques Monod, Université Paris Diderot, Paris, France.ORCID http://orcid.org/0000-0002-4100-2681
Micheline Misrahi *Faculté de Médecine, Université Paris Sud, Université Paris Saclay, Hôpital Bicêtre, Le Kremlin-Bicêtre, France.ORCID http://orcid.org/0000-0002-5379-8859
Université Paris-Sud · FRTurku University Hospital · FIUniversité Paris Cité · FRCentre National de la Recherche Scientifique · FRHôpital Necker-Enfants Malades · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary Ovarian Insufficiency (POI) affects ~1% of women under forty. Exome sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in

Indexed as

HomozygoteMutationAdultChromosome AberrationsDNA HelicasesExome SequencingFanconi Anemia Complementation Group D2 ProteinFemaleGenetic Predisposition to DiseaseGenotypeHomologous RecombinationHumansMaleMiddle AgedOvaryPedigreeDNA HelicasesFANCD2 protein, humanFANCM protein, humanFanconi Anemia Complementation Group D2 Proteinexome sequencingFANCMhumanhuman biologymedicineMitomycin Cmutationprimary ovarian insufficiencyreplication inhibitor

Identifiers

PMID29231814
PMCPMC5764568
OpenAlexW2773487956

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.