Evidence map›Paper›PMID 27896109›Full record

ArticleMolecular genetics and metabolism reports2014

Somatic mosaicism for a novel

Kristin K Deeb, Jirair K Bedoyan, Raymond Wang, Leighann Sremba, Molly C Schroeder, George J Grahame, Monica Boyer, Shawn E McCandless, Douglas S Kerr, Shulin Zhang

Registry-linked trialOpen access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03056794 (Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies), which is not on this map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.1field-weighted citation impact, top 47% 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.

NCT03056794 recruitingnot on this mapstarted 2015, after this paper: background citation

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research Network, Project 7413)

Typeobservational_patient_registrySponsorUniversity of PittsburghRan2015 to 2026Enrolled150ConditionsPyruvate Dehydrogenase Complex Deficiency DiseaseArmsNo intervention
3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Paroxysmal Movement Disorders.Frontiers in neurology · 2021
    Review
  4. Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.Annals of clinical and translational neurology · 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 at 3 institutions in 1 country.

Kristin K DeebCenter for Human Genetics Laboratory University Hospitals Case Medical Center, Cleveland, OH, USA.
Jirair K BedoyanCenter for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, USA.
Raymond WangDivision of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA.
Leighann SrembaDivision of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA.
Molly C SchroederCenter for Human Genetics Laboratory University Hospitals Case Medical Center, Cleveland, OH, USA.
George J GrahameCenter for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, USA.
Monica BoyerDivision of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, USA.
Shawn E McCandlessCenter for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, USA.
Douglas S KerrCenter for Inherited Disorders of Energy Metabolism (CIDEM), University Hospitals Case Medical Center, Cleveland, OH, USA.
Shulin ZhangCenter for Human Genetics Laboratory University Hospitals Case Medical Center, Cleveland, OH, USA.
University Hospitals Case Medical Center · USChildren's Hospital of Orange County · USCenter for Human Genetics · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pyruvate dehydrogenase complex (PDC) deficiencies are mostly due to mutations in the X-linked

Indexed as

MosaicismMutation analysisPDHA1 genePDHc Deficiency

Identifiers

PMID27896109
PMCPMC5121365
OpenAlexW1997431626

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.