Evidence map›Paper›PMID 30404926›Full record

ArticleCold Spring Harbor molecular case studies2018

Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage.

Benjamin Briggs, Kiely N James, Shimul Chowdhury, Courtney Thornburg, Lauge Farnaes, David Dimmock, Stephen F Kingsmore, RCIGM Investigators

Registry-linked trialOpen access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02917460 (Genomic Biorepository), which is not on this map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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.

NCT02917460 narecruitingnot on this map

Genomic Biorepository: Protocol for the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data

TypeinterventionalSponsorRady Pediatric Genomics & Systems Medicine InstituteRan2016 to 2050Enrolled102,000ConditionsGenetic DiseasesArmsGenomic sequencing and molecular diagnostic results, if any
3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 15 citations in OpenAlex.

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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

8 authors at 2 institutions in 1 country.

Benjamin BriggsRady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA.ORCID 0000-0002-4673-702X
Kiely N JamesRady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA.
Shimul ChowdhuryRady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA.
Courtney ThornburgDepartment of Pediatrics, Division of Hematology and Oncology, University of California, San Diego, California 92123, USA.
Lauge FarnaesRady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA.
David DimmockRady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA.
Stephen F KingsmoreRady Children's Institute of Genomic Medicine, University of California, San Diego, California 92123, USA.
RCIGM Investigators
Children’s Institute · USUniversity of California San Diego · US

Funding

ConProject-001U19HD077693 · NICHD · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · PI KINGSMORE, STEPHEN FRANCIS · 2013 to 2018
$6.2M
NICHD NIH HHS U19 HD077693
6 · The paper itself

Abstract

Pediatric stroke can be either hemorrhagic or ischemic, with ∼5% of hemorrhagic strokes being caused by genetic coagulopathies. We report an 8 mo old presenting with a hemorrhagic stroke caused by severe Factor XIII deficiency (OMIM # 613225) in whom rapid whole-genome sequencing identified a novel variant in the

Indexed as

Blood Coagulation TestsFactor XIIIFactor XIII DeficiencyHematomaHumansInfantIntracranial HemorrhagesKRIT1 ProteinMalePostoperative HemorrhageStrokeWhole Genome SequencingFactor XIIIKRIT1 ProteinKRIT1 protein, humanintracranial hemorrhagestroke-like episodes

Identifiers

PMID30404926
PMCPMC6318776
OpenAlexW2900077826

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.