Evidence map›Paper›PMID 40052222›Full record

ArticleAmerican journal of hematology2025

Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia.

Debbie Jiang, Emily Vistica Sampino, Kira Rosenlind, Dean R Campagna, Stephanie DiTroia, Mark D Fleming, Siobán B Keel

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of hematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Debbie JiangDivision of Hematology, Massachusetts General Hospital, Boston, Massachusetts, USA.ORCID https://orcid.org/0000-0002-2978-3585
Emily Vistica SampinoCenter for Cancer and Blood Disorders, Connecticut Children's Medical Center, Hartford, Connecticut, USA.
Kira RosenlindUniversity of Washington, Seattle, Washington State, USA.
Dean R CampagnaDepartment of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Stephanie DiTroiaBroad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Mark D FlemingDepartment of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Siobán B KeelDivision of Hematology, University of Washington, Seattle, Washington State, USA.

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
Children's Hospital Pathology FoundationNational Bleeding Disorders Foundation Takeda Clinical FellowshipNHGRI NIH HHS R01 HG009141NHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG008900
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID40052222
PMCPMC11984629

What OpenQuestion holds

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Registered trials

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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.