Evidence map›Paper›PMID 24839611›Full record

ArticleAnnals of clinical and translational neurology2014

Tyler Mark Pierson, Hongjie Yuan, Eric D Marsh, Karin Fuentes-Fajardo, David R Adams, Thomas Markello, Gretchen Golas, Dimitre R Simeonov, Conisha Holloman, Anel Tankovic and 9 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
123citing papers in PubMed, 1 pooled it
17.7field-weighted citation impact, top 1% 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

123 citing papers in PubMed, 1 synthesis or guideline pooled it, 293 citations in OpenAlex.

  1. Application of n-of-1 treatment trials in schizophrenia: systematic review.The British journal of psychiatry : the journal of mental science · 2018
    Pooled it
  2. Single-Dose Memantine Improves Cortical Oscillatory Response Dynamics in Patients with Schizophrenia.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2017
    Trial
  3. Author response to Commentary on "Long-term safety and efficacy of deoxycytidine/deoxythymidine in treatment of POLG-related disorders".Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026
    Article
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  18. Annals of the Child Neurology Society · 2024
    Article
  19. Review
  20. Review

63 more citing papers are in PubMed but not listed here.

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

19 authors at 5 institutions in 1 country.

Tyler Mark PiersonNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA ; Department of Pediatrics and Neurology, and the Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Hongjie YuanDepartment of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
Eric D MarshDivision of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Karin Fuentes-FajardoNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA.
David R AdamsNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA.
Thomas MarkelloNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA.
Gretchen GolasNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA.
Dimitre R SimeonovNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA.
Conisha HollomanNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA.
Anel TankovicDepartment of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
Manish M KaramchandaniDepartment of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
John M SchreiberEEG Section, NINDS, NIH, Bethesda, MD, USA.
James C MullikinNIH Intramural Sequencing Center, NHGRI, NIH, Bethesda, MD, USA.
PhD for the NISC Comparative Sequencing Program
Cynthia J TifftNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Camilo ToroNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Cornelius F BoerkoelNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Stephen F TraynelisDepartment of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA.
William A GahlNIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
National Human Genome Research Institute · USEmory University · USChildren's Hospital of Philadelphia · USNational Institutes of Health · USUniversity of Pennsylvania · US

Funding

Inter- and Intra-Species Comparative SequencingZIBHG000196 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI THOMAS, JAMES · 2009 to 2025
$177.6M
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Human Biochemical GeneticsZ01HG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM ALLEN · 2003 to 2008
$10.2M
Studies Of Hereditary Neurological Disease: Disease Gene IdentificationZIANS002974 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI FISCHBECK, KENNETH · 2009 to 2023
$9.8M
Control of Glutamate Receptor FunctionR01NS036654 · NINDS · EMORY UNIVERSITY · PI TRAYNELIS, STEPHEN F · 1998 to 2018
$3.7M
Control of glutamate receptor functionR37NS036654 · NINDS · EMORY UNIVERSITY · PI TRAYNELIS, STEPHEN F · 2007 to 2013
$2.4M
Intramural NIH HHS Z01 HG000215NINDS NIH HHS R01 NS036654NINDS NIH HHS R37 NS036654
6 · The paper itself

Abstract

objectiveEarly-onset epileptic encephalopathies have been associated with de

methodsThree modern translational medicine tools were utilized: 1) high-throughput sequencing technology to identify a novel

resultsA

interpretationThis case exemplifies the potential for personalized genomics and therapeutics to be utilized for the early diagnosis and treatment of infantile-onset neurological disease.

Identifiers

PMID24839611
PMCPMC4019449
OpenAlexW1987093811

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.