Evidence map›Paper›PMID 28808687›Full record

ArticleNeurology. Genetics2017

Whole-exome sequencing associates novel

Javier Ruiz-Martínez, Luis J Azcona, Alberto Bergareche, Jose F Martí-Massó, Coro Paisán-Ruiz

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

Article in Neurology. Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
2.3field-weighted citation impact, top 12% 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

28 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.

  1. Pooled it
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  4. Review
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  6. Article
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  9. Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
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  10. Review
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  12. The complement system in neurodegenerative diseases.Clinical science (London, England : 1979) · 2024
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  13. Article
  14. Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. NaJournal of neural transmission (Vienna, Austria : 1996) · 2021
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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

5 authors at 1 institution in 1 country.

Javier Ruiz-MartínezDepartment of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country-UPV-EHU, San Sebastián, Spain.
Luis J AzconaDepartment of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country-UPV-EHU, San Sebastián, Spain.
Alberto BergarecheDepartment of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country-UPV-EHU, San Sebastián, Spain.
Jose F Martí-MassóDepartment of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country-UPV-EHU, San Sebastián, Spain.
Coro Paisán-RuizDepartment of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country-UPV-EHU, San Sebastián, Spain.
Biomedical Research Networking Center on Neurodegenerative Diseases · ES

Funding

Elucidating and understanding the genetic basis of movement disordersR01NS079388 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI PAISAN-RUIZ, CORO · 2013 to 2017
$1.9M
NINDS NIH HHS R01 NS079388
6 · The paper itself

Abstract

objectiveDespite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases.

methodsIn this study, we clinically evaluated 2 unrelated Spanish families diagnosed with PD, in which known PD genes were previously excluded, and performed whole-exome sequencing analyses in affected individuals for disease gene identification.

resultsPatients were diagnosed with typical PD without relevant distinctive symptoms. Two different novel mutations were identified in the

conclusionsWe conclude that the

Identifiers

PMID28808687
PMCPMC5540655
OpenAlexW2741738264

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.