Evidence map›Paper›PMID 30283904›Full record

ArticleJBMR plus2018

Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in

Zixue Jin, Lindsay C Burrage, Ming-Ming Jiang, Yi-Chien Lee, Terry Bertin, Yuqing Chen, Alyssa Tran, Richard A Gibbs, Shalini Jhangiani, V Reid Sutton and 3 more

Open access · goldAbstract read
In one paragraph

Article in JBMR plus, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 32% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. 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

13 authors at 3 institutions in 2 countries.

Zixue JinDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Lindsay C BurrageDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Ming-Ming JiangDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Yi-Chien LeeDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Terry BertinDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Yuqing ChenDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Alyssa TranDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine Houston TX USA.
Shalini JhangianiHuman Genome Sequencing Center, Baylor College of Medicine Houston TX USA.
V Reid SuttonDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Frank RauchShriners Hospital for Children and McGill University Montreal Canada.
Brendan LeeDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Mahim JainDepartment of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.
Baylor College of Medicine · USKennedy Krieger Institute · USMontreal Children's Hospital · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The heritable disorder osteogenesis imperfecta (OI) is characterized by bone fragility and low bone mass. OI type VI is an autosomal recessive form of the disorder with moderate to severe bone fragility. OI type VI is caused by mutations in the serpin peptidase inhibitor, clade F, member 1 (

Indexed as

GENETIC RESEARCHINTRONIC VARIANTMATRIX MINERALIZATIONOSTEOGENESIS IMPERFECTA TYPE VISPLICE VARIANT

Identifiers

PMID30283904
PMCPMC6124173
OpenAlexW2791357437

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.