ArticleCirculation. Genomic and precision medicine2018
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry.
2 registry-linked trialsOpen access · bronzeAbstract readLetter
In one paragraph
Article in Circulation. Genomic and precision medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 27 papers.
0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
1.7field-weighted citation impact, top 16% of its field
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.
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.
Diamond Blackfan Anemia Registry (DBAR)
A Phase 1, Open-label, Single-arm Study of APR 2020 in Transfusion Dependent, Steroid Resistant Pediatric and Adolescent Subjects With RPS19 Deficient Diamond Blackfan Anemia by Transplantation of Autologous CD34+ Stem Cells Transduced With CLIN LV EFS coRPS19 PRE* (APR-2020)
Who cites it
27 citing papers in PubMed, 42 citations in OpenAlex.
- Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.Circulation research · 2021Trial
- DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.American journal of hematology · 2026Article
- Article
- Translational Control in Cardiac Pathophysiology and Therapeutic Development: When mRNA Meets the Heart.International journal of molecular sciences · 2025Review
- Alternative mRNA splicing in anthracycline-induced cardiomyopathy - a COG-ALTE03N1 report.Cardio-oncology (London, England) · 2025Article
- Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.The Lancet. Haematology · 2024Article
- The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.Children (Basel, Switzerland) · 2023Review
- Quantitative proteomic profiling identifies global protein network dynamics in murine embryonic heart development.Developmental cell · 2023Article
- Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review.Medicina (Kaunas, Lithuania) · 2023Review
- [Prevalence and risk factors of obesity in children with Diamond-Blackfan anemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- Nascent polypeptide-Associated Complex and Signal Recognition Particle have cardiac-specific roles in heart development and remodeling.PLoS genetics · 2022Article
- Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.PLoS genetics · 2022Article
- The Ribosomal Protein L5 Functions DuringFrontiers in cell and developmental biology · 2022Article
- Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.Frontiers in oncology · 2022Review
- Article
- A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease.Genome biology · 2021Article
- Diamond-Blackfan anemia.Hematology. American Society of Hematology. Education Program · 2021Article
- A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.Blood advances · 2021Article
- Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.Best practice & research. Clinical haematology · 2021Review
- Dental considerations in a paediatric patient with Diamond-Blackfan anaemia.BMJ case reports · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 10 institutions in 2 countries.
Adrianna VlachosThe Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY (A.V., D.S.O., E.A., J.K., M.L.L., D.G., K.O., J.M.L.) avlachos@northwell.edu.
Diana S OsorioThe Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY (A.V., D.S.O., E.A., J.K., M.L.L., D.G., K.O., J.M.L.).
Evangelia AtsidaftosThe Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY (A.V., D.S.O., E.A., J.K., M.L.L., D.G., K.O., J.M.L.).
Jessica KangThe Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY (A.V., D.S.O., E.A., J.K., M.L.L., D.G., K.O., J.M.L.).
Mohammad Lutfi LababidiThe Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY (A.V., D.S.O., E.A., J.K., M.L.L., D.G., K.O., J.M.L.).
Howard S SeidenDivision of Pediatric Cardiology (H.S.S., D.G.).
Dorota GruberThe Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY (A.V., D.S.O., E.A., J.K., M.L.L., D.G., K.O., J.M.L.).
Bertil E GladerDivision of Hematology/Oncology, Lucile Packard Children's Hospital Stanford, Palo Alto, CA (B.E.G.).
Kenan OnelThe Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY (A.V., D.S.O., E.A., J.K., M.L.L., D.G., K.O., J.M.L.).
Jason E FarrarDepartment of Pediatrics, Section of Hematology and Oncology, Arkansas Children's Research Institute, University of Arkansas for Medical Sciences, Little Rock, AR (J.E.F.).
David M BodineGenetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (J.K., D.M.B.).
Anna AspesiDepartment of Health Sciences, University of Piemonte Orientale, Novara, Italy (A.A., I.D.).
Irma DianzaniDepartment of Health Sciences, University of Piemonte Orientale, Novara, Italy (A.A., I.D.).
Ugo RamenghiDepartment of Public Health and Pediatric Sciences, University of Torino, Italy (U.R.).
Steven R EllisDepartment of Biochemistry (S.R.E.).
Jeffrey M LiptonThe Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY (A.V., D.S.O., E.A., J.K., M.L.L., D.G., K.O., J.M.L.).
Feinstein Institute for Medical Research · USNorthwell Health · USUniversità degli Studi del Piemonte Orientale “Amedeo Avogadro” · ITCohen Children's Medical Center · USIcahn School of Medicine at Mount Sinai · USLucile Packard Children's Hospital · USNational Institutes of Health · USNationwide Children's Hospital · USUniversity of Arkansas for Medical Sciences · USUniversity of Turin · IT
Funding
Translational Regulation in Normal Erythropoiesis and Diamond Blackfan AnemiaP20GM121293 · NIGMS · ARKANSAS CHILDREN'S HOSPITAL RES INST · PI Alan Tackett, Sean D. Taverna · 2017 to 2026
$27.6MRed Cell BiologyZIAHG200339 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BODINE, DAVID M. · 2009 to 2022
$11.8MThe DBA Registry: A Vital Tool for the Study of DBAR01HL079571 · NHLBI · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI LIPTON, JEFFREY M · 2004 to 2018
$5.3MFunctional Analysis of RPL35A Alterations in Diamond Blackfan AnemiaK08HL092224 · NHLBI · UNIV OF ARKANSAS FOR MED SCIS · PI FARRAR, JASON ELI · 2009 to 2013
$672kNHLBI NIH HHS K08 HL092224NHLBI NIH HHS R01 HL079571NIGMS NIH HHS P20 GM121293
Abstract
PubMed holds no abstract for this paper.
Indexed as
RegistriesResearch ReportAnemia, Diamond-BlackfanChildChild, PreschoolHeart Defects, CongenitalHumansInfant, NewbornMalePrevalenceanemia, Diamond Blackfanchildhuman geneticshumansmutation
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
NCT00106015ClinicalTrials.gov
NCT07476183ClinicalTrials.gov
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.