Evidence map›Paper›PMID 38002903›Full record

ReviewChildren (Basel, Switzerland)2023

The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.

Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, Eftichia Stiakaki

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

Review in Children (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 29% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. 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 at 3 institutions in 1 country.

Iordanis PelagiadisDepartment of Pediatric Hematology-Oncology, University Hospital of Heraklion, School of Medicine, University of Crete, 71003 Heraklion, Greece.ORCID 0000-0001-5737-3770
Ioannis KyriakidisDepartment of Pediatric Hematology-Oncology, University Hospital of Heraklion, School of Medicine, University of Crete, 71003 Heraklion, Greece.ORCID 0000-0002-8153-9643
Nikolaos KatzilakisDepartment of Pediatric Hematology-Oncology, University Hospital of Heraklion, School of Medicine, University of Crete, 71003 Heraklion, Greece.ORCID 0000-0002-0421-7712
Chrysoula KosmeriDepartment of Pediatrics, University Hospital of Ioannina, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.ORCID 0000-0003-1244-375X
Danai VeltraLaboratory of Medical Genetics, "Aghia Sophia" Children's Hospital, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.ORCID 0000-0002-6548-0928
Christalena SofocleousLaboratory of Medical Genetics, "Aghia Sophia" Children's Hospital, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.ORCID 0000-0002-3205-4287
Stavros GlentisDivision of Pediatric Hematology-Oncology, First Department of Pediatrics, "Aghia Sofia" Children's Hospital, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.ORCID 0000-0002-9217-052X
Antonis KattamisDivision of Pediatric Hematology-Oncology, First Department of Pediatrics, "Aghia Sofia" Children's Hospital, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.ORCID 0000-0002-5178-0655
Alexandros MakisDepartment of Pediatrics, University Hospital of Ioannina, Faculty of Medicine, School of Health Sciences, University of Ioannina, 45110 Ioannina, Greece.ORCID 0000-0003-0142-6110
Eftichia StiakakiDepartment of Pediatric Hematology-Oncology, University Hospital of Heraklion, School of Medicine, University of Crete, 71003 Heraklion, Greece.ORCID 0000-0002-3343-5110
National and Kapodistrian University of Athens · GRUniversity of Crete · GRUniversity of Ioannina · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Diamond-Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ribosomal protein (RP) gene along with a defect in the ribosomal RNA (rRNA) maturation or levels. Besides classic DBA, DBA-like disease has been described with variations in 16 genes (primarily in

Indexed as

congenital abnormalitiescongenital bone marrow failure syndromeDiamond–Blackfan anemiaGATA1 1 transcription factormutationphenotyperibosomal proteinsribosomesplice variantssplicing

Identifiers

PMID38002903
PMCPMC10670567
OpenAlexW4388693879

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.