Evidence map›Paper›PMID 29988648›Full record

ArticleClinical case reports2018

Diagnostic exome sequencing identifies

Samin A Sajan, Zöe Powis, Katherine L Helbig, Honey Nagakura, Ladonna Immken, Sha Tang, Wendy A Alcaraz

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 31% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Homozygosity for a NovelInternational journal of molecular sciences · 2022
    Article
  2. Article
  3. Diagnostic exome sequencing identifiesClinical case reports · 2018
    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

7 authors at 2 institutions in 1 country.

Samin A SajanDepartment of Clinical Genomics Ambry Genetics Aliso Viejo CA USA.ORCID 0000-0002-9689-2597
Zöe PowisDepartment of Clinical Genomics Ambry Genetics Aliso Viejo CA USA.
Katherine L HelbigDepartment of Clinical Genomics Ambry Genetics Aliso Viejo CA USA.
Honey NagakuraSpecially for Children Genetics Austin TX USA.
Ladonna ImmkenSpecially for Children Genetics Austin TX USA.
Sha TangDepartment of Clinical Genomics Ambry Genetics Aliso Viejo CA USA.
Wendy A AlcarazDepartment of Clinical Genomics Ambry Genetics Aliso Viejo CA USA.
Ambry Genetics (United States) · USChildren's Specialty Group · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of

Indexed as

developmental anomaliesdiagnostic exome sequencingGLI2uniparental disomy

Identifiers

PMID29988648
PMCPMC6028413
OpenAlexW2801946555

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.