Evidence map›Paper›PMID 28947054›Full record

ArticleThe Journal of pediatrics2017

Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.

Hengameh Zahed, Teresa N Sparks, Ben Li, Adnan Alsadah, Joseph T C Shieh

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of pediatrics, 2017. 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
–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

3 citing papers in PubMed.

  1. Novel Intronic Mutations of theInternational journal of general medicine · 2023
    Article
  2. Article
  3. 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

5 authors.

Hengameh ZahedDivision of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA.
Teresa N SparksDivision of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA; Department of Obstetrics, Gynecology and Reproductive Medicine, University of California San Francisco, San Francisco, CA.
Ben LiDivision of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA; Department of Obstetrics, Gynecology and Reproductive Medicine, University of California San Francisco, San Francisco, CA.
Adnan AlsadahDivision of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA.
Joseph T C ShiehDivision of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA; Institute for Human Genetics, Benioff Children's Hospital San Francisco, University of California San Francisco, San Francisco, CA. Electronic address: shiehj2@humgen.ucsf.edu.

Funding

WOMEN'S REPRODUCTIVE HEALTH RESEARCH CENTERK12HD001262 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Andrea Vashti Jackson · 1998 to 2026
$9.3M
NICHD NIH HHS K12 HD001262
6 · The paper itself

Abstract

We present cases of 3 children diagnosed with the same genetic condition, Gitelman syndrome, at different stages using various genetic methods: panel testing, targeted single gene sequencing, and exome sequencing. We discuss the advantages and disadvantages of each method and review the potential of genomic sequencing for early disease detection.

Indexed as

AdolescentChildChild, PreschoolEarly DiagnosisGenetic Diseases, InbornGenetic TestingGitelman SyndromeHumansMaleSequence Analysis, DNAexome sequencinggene panelssecondary findings

Identifiers

PMID28947054
PMCPMC6037534

What OpenQuestion holds

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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.