Evidence map›Paper›PMID 30863264›Full record

ArticleJournal of Korean medical science2019

Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1.

Young A Kim, Hye Young Jin, Yoo-Mi Kim

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of Korean medical science, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 35% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Exploring the relationship betweenFrontiers in neuroscience · 2023
    Pooled it
  2. Review
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

3 authors at 2 institutions in 1 country.

Young A KimDepartment of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.ORCID https://orcid.org/0000-0002-8332-5200
Hye Young JinDepartment of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea.ORCID https://orcid.org/0000-0003-1433-3394
Yoo-Mi KimDepartment of Pediatrics, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon, Korea.ORCID https://orcid.org/0000-0002-8440-5069
Chungnam National University Hospital · KRInje University Haeundae Paik Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (

Indexed as

Base SequenceDNADNA-Binding ProteinsExome SequencingExonsFemaleHumansInfantInfant DeathMuscular Atrophy, SpinalPedigreePolymorphism, Single NucleotideRespiratory Distress Syndrome, NewbornSyriaTranscription FactorsDNADNA-Binding ProteinsIGHMBP2 protein, humanTranscription FactorsExome SequencingInfant DeathSpinal Muscular Atrophy with Respiratory Distress Type 1

Identifiers

PMID30863264
PMCPMC6406039
OpenAlexW2913975011

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.