Evidence map›Paper›PMID 29331327›Full record

ArticleThe Journal of pediatrics2018

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.

Chloe M Reuter, Elise Brimble, Colette DeFilippo, Annika M Dries, Undiagnosed Diseases Network, Gregory M Enns, Euan A Ashley, Jonathan A Bernstein, Paul Graham Fisher, Matthew T Wheeler

Registry-linked trialAbstract readCase Reports
In one paragraph

Article in The Journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
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  9. Article
  10. Recent Developments in UsingInternational journal of molecular sciences · 2018
    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

10 authors.

Chloe M ReuterStanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
Elise BrimbleDepartment of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.
Colette DeFilippoDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA; Stanford Children's Health, Palo Alto, CA.
Annika M DriesStanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
Undiagnosed Diseases Network
Gregory M EnnsDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA.
Euan A AshleyStanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA; Department of Genetics, Stanford University School of Medicine, Stanford, CA.
Jonathan A BernsteinStanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA; Stanford Children's Health, Palo Alto, CA.
Paul Graham FisherStanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
Matthew T WheelerStanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA. Electronic address: wheelerm@stanford.edu.

Funding

Coordinating Center for the Undiagnosed Diseases NetworkU01HG007530 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2022
$30.2M
Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2M
Stanford Center for Undiagnosed DiseasesU01HG007708 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2014 to 2018
$8.0M
C BRIGGSAE AND C ELEGANS GENOMIC SEQUENCE COMPARISONF32HG000130 · NHGRI · WASHINGTON UNIVERSITY · PI COUCH, JENNIFER A · 1994 to 1995
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NHGRI NIH HHS F32 HG000130NHGRI NIH HHS U01 HG007530NHGRI NIH HHS U01 HG007708NHGRI NIH HHS U01 HG007942
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Child, PreschoolForkhead Transcription FactorsGenetic TestingGenotypeGovernment ProgramsHumansMaleMutationNational Institutes of Health (U.S.)NAV1.5 Voltage-Gated Sodium ChannelNerve Tissue ProteinsPhenotypeRare DiseasesUnited StatesForkhead Transcription FactorsFOXG1 protein, humanNAV1.5 Voltage-Gated Sodium ChannelNerve Tissue ProteinsSCN5A protein, humanclinical researchdiagnostic dilemmadiagnostic odysseyFOXG1genetic testingsecondary findingwhole exome sequencing

Identifiers

PMID29331327
PMCPMC5924635

What OpenQuestion holds

Textmetadata
LicenceTDM
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.