Evidence map›Paper›PMID 24794858›Full record

ReviewHuman molecular genetics2014

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.

Rita Guerreiro, José Brás, John Hardy, Andrew Singleton

Abstract readReview
In one paragraph

Review in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing 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

32 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Article
  6. Article
  7. Epigenetics of the Synapse in Neurodegeneration.Current neurology and neuroscience reports · 2019
    Review
  8. Article
  9. Review
  10. Frontiers in genetics · 2019
    Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.Journal of neural transmission (Vienna, Austria : 1996) · 2017
    Review
  16. Article
  17. Next-generation sequencing in neuromuscular diseases.Current opinion in neurology · 2016
    Review
  18. Article
  19. Article
  20. 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

4 authors.

Rita GuerreiroDepartment of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA r.guerreiro@ucl.ac.uk.
José BrásDepartment of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK.
John HardyDepartment of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, London WC1N 1PJ, UK.
Andrew SingletonLaboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.

Funding

Assessment of Candidate Loci in Neurological diseasesZIAAG000957 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.2M
Genetic Analysis Of Alzheimer s DiseaseZIAAG000950 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2019
$6.9M
Medical Research Council MC_G1000735Parkinson's UK G-1107Wellcome Trust 089698
6 · The paper itself

Abstract

The development of next-generation sequencing technologies has allowed for the identification of several new genes and genetic factors in human genetics. Common results from the application of these technologies have revealed unexpected presentations for mutations in known disease genes. In this review, we summarize the major contributions of exome sequencing to the study of neurodegenerative disorders and other neurological conditions and discuss the interface between Mendelian and complex neurological diseases with a particular focus on pleiotropic events.

Indexed as

ExomeGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationHigh-Throughput Nucleotide SequencingHumansMutationNervous System DiseasesPhenotypeSequence Analysis, DNA

Identifiers

PMID24794858
PMCPMC4170717

What OpenQuestion holds

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Registered trials

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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.