Evidence map›Paper›PMID 33327715›Full record

ArticleHaematologica2021

Biallelic

Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre and 6 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Haematologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.3field-weighted citation impact, top 42% 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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Review
  3. A Pair of Compound HeterozygousGlobal medical genetics · 2024
    Article
  4. Article
  5. Frontiers in pediatrics · 2022
    Article
  6. Biallelic mutations in theHaematologica · 2021
    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

16 authors at 7 institutions in 2 countries.

Giulia BarciaFederation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris. giulia.barcia@aphp.fr.
Dinusha PandithanMetabolic Clinic, Women's and Children's Hospital, North Adelaide.
Benedetta RuzzenenteLaboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.
Zahra AssoulineFederation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris.
Alessandra PennisiFederation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris.
Clothilde OrmieresFederation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris.
Claude BesmondTranslational Genetics Laboratory, UMR U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris.
Charles-Joris RouxDepartment of Pediatric Radiology, Hospital Necker Enfants Malades, Paris.
Nathalie BoddaertDepartment of Pediatric Radiology, Hospital Necker Enfants Malades, Paris.
Isabelle DesguerreDepartment of Pediatric Neurology, Hospital Necker-Enfants Malades, Paris.
David R ThorburnMurdoch Children's Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052.
Drago BratkovicMetabolic Clinic, Women's and Children's Hospital, North Adelaide.
Arnold MunnichFederation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.
Jean-Paul BonnefontFederation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.
Agnès RötigLaboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.
Julie SteffannFederation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.
Hôpital Necker-Enfants Malades · FRWomen's and Children's Hospital · AUInstitut des Maladies Génétiques Imagine · FRInstitut Necker Enfants Malades · FRUniversité Paris Cité · FRDélégation Paris 5 · FRRoyal Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Not available.

Indexed as

Amino Acyl-tRNA SynthetasesAnemia, SideroblasticHumansMutationAmino Acyl-tRNA Synthetases

Identifiers

PMID33327715
PMCPMC8018106
OpenAlexW3113164800

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.