Evidence map›Paper›PMID 29447355›Full record

ArticleHuman molecular genetics2018

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Harper B Fauni, Lynne A Wolfe, Jianfeng Xiao and 10 more

Abstract readPublished Erratum
PubMed Full text at PMC Publisher
In one paragraph

Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Keeping ribosomal DNA intact: a repeating challenge.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2019
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

20 authors.

Camilo ToroUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Roderick T HoriDepartment of Microbiology, Immunology and Biochemistry, University of Tennessee Health Science Center, Memphis, TN, USA.
May Christine V MalicdanUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Cynthia J TifftUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Amy GoldsteinDivision of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
William A GahlUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
David R AdamsUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Harper B FauniUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Lynne A WolfeUndiagnosed Diseases Program and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Jianfeng XiaoDepartments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.
Mohammad M KhanDepartments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.
Jun TianDepartments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.
Kevin A HopeIntegrated Program in Biological Sciences, University of Tennessee Health Science Center, Memphis, TN, USA.
Lawrence T ReiterDepartments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.
Michel G TremblayLaboratory of Growth and Development, St-Patrick Research Group in Basic Oncology, Cancer Division of the Quebec University Hospital Research Centre, Canada.
Tom MossLaboratory of Growth and Development, St-Patrick Research Group in Basic Oncology, Cancer Division of the Quebec University Hospital Research Centre, Canada.
Alexis L FranksDivision of Child Neurology, Department of Pediatrics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Chris BalakCenter for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, AZ, USA.
C4RCD Research Group
Mark S LeDouxDepartments of Neurology and Anatomy & Neurobiology, University of Tennessee Health Science Center, Memphis, TN, USA.

Funding

NHGRI/DIR Clinical Support ServicesZIDHG200352 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SOLOMON, BENJAMIN · 2009 to 2025
$182.8M
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID29447355
PMCPMC6093340

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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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.