Evidence map›Paper›PMID 40208938›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2025

Biallelic variants in the conserved ribosomal protein chaperone gene

Anne-Marie Landry-Voyer, Tess Holling, Emily K Mis, Zabih Mir Hassani, Malik Alawi, Weizhen Ji, Lauren Jeffries, Kerstin Kutsche, François Bachand, Saquib A Lakhani

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

10 authors.

Anne-Marie Landry-Voyer *Department of Biochemistry and Functional Genomics, Université de Sherbrooke, Sherbrooke J1E4K8, Canada.ORCID 0009-0000-4312-1708
Tess Holling *Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
Emily K Mis *Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510.
Zabih Mir HassaniDepartment of Biochemistry and Functional Genomics, Université de Sherbrooke, Sherbrooke J1E4K8, Canada.
Malik AlawiBioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
Weizhen JiPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510.
Lauren JeffriesPediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510.ORCID 0000-0002-6419-0515
Kerstin Kutsche *Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
François Bachand *Department of Biochemistry and Functional Genomics, Université de Sherbrooke, Sherbrooke J1E4K8, Canada.ORCID 0000-0003-3753-8966
Saquib A Lakhani *Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510.ORCID 0000-0003-3235-3460

Funding

Canadian Government | CIHR | Institute of Genetics (IG) PJT-178035Deutsche Forschungsgemeinschaft (DFG) KU 1240/13-1
6 · The paper itself

Abstract

Pregnancy loss is a major problem in clinical medicine with devastating consequences for families. Next generation sequencing has improved our ability to identify underlying molecular causes, though over half of all cases lack a clear etiology. Here, we began with clinical evaluation combined with exome sequencing across independent families to identify bi-allelic candidate genetic variants in the

Indexed as

Abortion, SpontaneousApoptosis Regulatory ProteinsHydrops FetalisMolecular ChaperonesRibosomal ProteinsAllelesAnimalsFemaleHumansMalePregnancyApoptosis Regulatory ProteinsMolecular ChaperonesRibosomal Proteinshydrops fetalisPDCD2pregnancy lossribosomal protein chaperoneribosome biogenesis

Identifiers

PMID40208938
PMCPMC12012559

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.