Evidence map›Paper›PMID 36200420›Full record

ArticleHaematologica2023

Mutations in the

Gonzalo Hernández, Lídia Romero-Cortadellas, Xènia Ferrer-Cortès, Veronica Venturi, Mercedes Dessy-Rodriguez, Mireia Olivella, Ammar Husami, Concepción Pérez De Soto, Rosario M Morales-Camacho, Ana Villegas and 8 more

Registry-linked trialOpen access · goldAbstract readLetter
In one paragraph

Article in Haematologica, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02964494 (The Congenital Dyserythropoietic Anemia Registry), which is not on this map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 28% 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.

NCT02964494 recruitingnot on this map

The Congenital Dyserythropoietic Anemia Registry (CDAR)

Typeobservational_patient_registrySponsorChildren's Hospital Medical Center, CincinnatiRan2016 to 2031Enrolled10,000ConditionsCongenital Dyserythropoietic Anemia (CDA)
3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Mechanism of ASF1 engagement by CDAN1.Nature communications · 2025
    Article
  2. Hereditary disorders of ineffective erythropoiesis.Blood cells, molecules & diseases · 2025
    Review
  3. Mechanism of ASF1 Inhibition by CDAN1.bioRxiv : the preprint server for biology · 2024
    Article
  4. New Cases and Mutations inInternational journal of molecular sciences · 2023
    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

18 authors at 8 institutions in 2 countries.

Gonzalo HernándezDepartment of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950.
Lídia Romero-CortadellasDepartment of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195.
Xènia Ferrer-CortèsDepartment of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950.
Veronica VenturiDepartment of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195.
Mercedes Dessy-RodriguezCell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación Sanitaria Fundación Jiménez. Madrid, 28040.
Mireia OlivellaBiosciences Department, Faculty of Sciences and Technology (FCT), Universitat de Vic - Universitat Central de Catalunya (UVic-UCC). Vic, 08500.
Ammar HusamiDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267.
Concepción Pérez De SotoService of Pediatric Hematology, Hospital Universitario Virgen del Rocío, UGC HH. HHUUVR. Sevilla, 41013.
Rosario M Morales-CamachoDepartment of Hematology, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla (IBIS/CISC/CIBERONC). Universidad de Sevilla, Sevilla, 41013.
Ana VillegasService of Hematology, Hospital Clínico San Carlos. Universidad Complutense, Madrid, 28040.
Fernando-Ataulfo González-FernándezService of Hematology, Hospital Clínico San Carlos. Universidad Complutense, Madrid, 28040.
Marta MoradoService of Hematology, Hospital La Paz, Madrid, 28046.
Theodosia A KalfaDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229.
Oscar Quintana-BustamanteCell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación Sanitaria Fundación Jiménez. Madrid, 28040.
Santiago Pérez-MonteroBloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950.
Cristian TornadorBloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950.
Jose-Carlos SegoviaCell Technology Division. Biomedical Innovative Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28040, Spain; Unidad Mixta de Terapias Avanzadas. Instituto de Investigación Sanitaria Fundación Jiménez. Madrid, 28040.
Mayka SánchezDepartment of Basic Sciences, Iron metabolism: Regulation and Diseases Group. Universitat Internacional de Catalunya (UIC). Sant Cugat del Vallès, 08195, Spain; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases. Esplugues de Llobregat, 08950. msanchezfe@uic.es.
Universitat Internacional de Catalunya · ESCentro de Investigaciones Energéticas, Medioambientales y Tecnológicas · ESCincinnati Children's Hospital Medical Center · USHospital Clínico San Carlos · ESHospital Universitario La Paz · ESHospital Universitario Virgen del Rocío · ESInstituto de Biomedicina de Sevilla · ESUniversitat de Vic - Universitat Central de Catalunya · ES

Funding

The Role of Erythroblastic Islands in Anemia of InflammationR01HL152099 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI BLANC, LIONEL, KALFA, THEODOSIA ANASTASIOS · 2020 to 2023
$2.5M
NHLBI NIH HHS R01 HL152099
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Anemia, Dyserythropoietic, CongenitalHumansInheritance PatternsMutation

Identifiers

PMID36200420
PMCPMC9890003
OpenAlexW4302287971

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

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.