Evidence map›Paper›PMID 32866285›Full record

ArticleBritish journal of haematology2021

Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia.

Moonjung Jung, Parinda A Mehta, Caroline S Jiang, Rasim O Rosti, Gabriel Usleaman, Joel M Correa da Rosa, Francis P Lach, Erica Goodridge, Arleen D Auerbach, Stella M Davies and 2 more

Open access · greenAbstract readComparative StudyMulticenter Study
In one paragraph

Article in British journal of haematology, 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
0.5field-weighted citation impact, top 37% 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, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Cell and Gene Therapy for Anemia: Hematopoietic Stem Cells and Gene Editing.International journal of molecular sciences · 2021
    Review
  5. Article
  6. 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

12 authors at 4 institutions in 1 country.

Moonjung JungLaboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-1364-1814
Parinda A MehtaDivision of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Caroline S JiangDepartment of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY, USA.
Rasim O RostiLaboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA.
Gabriel UsleamanDivision of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Joel M Correa da RosaDepartment of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY, USA.
Francis P LachLaboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA.
Erica GoodridgeDivision of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.
Arleen D AuerbachHuman Genetics and Hematology Program, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-6911-8379
Stella M DaviesDivision of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.ORCID 0000-0002-3137-6647
Agata SmogorzewskaLaboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA.ORCID 0000-0001-6285-1562
Farid BouladMSK Kids - Memorial Sloan Kettering, Stem Cell Transplantation and Cellular Therapies, New York, NY, USA.
Rockefeller University · USCincinnati Children's Hospital Medical Center · USRockefeller University Hospital · USMemorial Sloan Kettering Cancer Center · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
The role of nucleases in interstrand crosslink repairR01HL120922 · NHLBI · ROCKEFELLER UNIVERSITY · PI SMOGORZEWSKA, AGATA · 2014 to 2018
$2.1M
Functions of human RAD51 and its paralogs during DNA interstrand crosslink repairR01CA204127 · NCI · ROCKEFELLER UNIVERSITY · PI SMOGORZEWSKA, AGATA · 2017 to 2021
$2.0M
Novel sources of endogenous DNA damage in hematopoietic stem progenitor cellsK99HL150628 · NHLBI · ROCKEFELLER UNIVERSITY · PI JUNG, MOONJUNG · 2020 to 2024
$1.2M
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR001866NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA204127NHLBI NIH HHS K99 HL150628NHLBI NIH HHS R01 HL120922
6 · The paper itself

Abstract

Fanconi anaemia (FA) is a genetic disorder due to mutations in any of the 22 FANC genes (FANCA-FANCW) and has high phenotypic variation. Siblings may have similar clinical outcome because they share the same variants; however, such association has not been reported. We present the detailed phenotype and clinical course of 25 sibling sets with FA from two institutions. Haematological progression significantly correlated between siblings, which was confirmed in an additional 55 sibling pairs from the International Fanconi Anemia Registry. Constitutional abnormalities were not concordant, except for a moderate degree of concordance in kidney abnormalities and microcephaly.

Indexed as

Fanconi AnemiaKidneyMicrocephalyRegistriesSiblingsFemaleHumansMaleRetrospective StudiesAMLbone marrow failureFanconi anemiaMDSprognosissibling

Identifiers

PMID32866285
PMCPMC7914271
OpenAlexW3081810876

What OpenQuestion holds

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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.