Evidence map›Paper›PMID 34573423›Full record

ArticleGenes2021

Genetic Variation in

Russell J Buono, Jonathan P Bradfield, Zhi Wei, Michael R Sperling, Dennis J Dlugos, Michael D Privitera, Jacqueline A French, Warren Lo, Patrick Cossette, Steven C Schachter and 5 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 16% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Genes · 2023
    Review
  5. 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

15 authors at 11 institutions in 2 countries.

Russell J BuonoDepartment of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, NJ 08103, USA.
Jonathan P BradfieldCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Zhi WeiDepartment of Computer Science, New Jersey Institute of Technology, Newark, NJ 07102, USA.
Michael R SperlingDepartment of Neurology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Dennis J DlugosDepartment of Neurology and Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Michael D PriviteraDepartment of Neurology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.ORCID 0000-0002-0862-5975
Jacqueline A FrenchDepartment of Neurology, New York University, New York, NY 10016, USA.
Warren LoDepartment of Neurology, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Patrick CossetteMontreal University Health Center, University of Montreal, Montreal, QC H3C 3J7, Canada.
Steven C SchachterDepartments of Neurology, Massachusetts General Hospital, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02114, USA.
Heather BasehoreResearch Service, Coatesville Veteran's Affairs Medical Center, Coatesville, PA 19320, USA.
Falk W LohoffSection on Clinical Genomics and Experimental Therapeutics, NIAAA, NIH, Bethesda, MD 20892, USA.
Struan F A GrantCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Thomas N FerraroDepartment of Biomedical Sciences, Cooper Medical School of Rowan University, Camden, NJ 08103, USA.
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Children's Hospital of Philadelphia · USBeth Israel Deaconess Medical Center · USCoatesville Veterans Affairs Medical Center · USCooper Medical School of Rowan University · USNational Institutes of Health · USNationwide Children's Hospital · USNew Jersey Institute of Technology · USNew York University · USThomas Jefferson University · USUniversité de Montréal · CAUniversity of Cincinnati Medical Center · US

Funding

Genetic Study of Common Forms of EpilepsyR01NS064154 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI BUONO, RUSSELL J, HAKONARSON, HAKON · 2009 to 2010
$1.8M
NINDS NIH HHS R01-NS064154-01NINDS NIH HHS R01-NS49306-01
6 · The paper itself

Abstract

We performed a genome-wide association study (GWAS) to identify genetic variation associated with common forms of idiopathic generalized epilepsy (GE) and focal epilepsy (FE). Using a cohort of 2220 patients and 14,448 controls, we searched for single nucleotide polymorphisms (SNPs) associated with GE, FE and both forms combined. We did not find any SNPs that reached genome-wide statistical significance (

Indexed as

Polymorphism, Single NucleotideBlack or African AmericanCase-Control StudiesChromosomes, Human, Pair 1Epilepsies, PartialEpilepsy, GeneralizedFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleProtein-Arginine Deiminase Type 4Protein-Arginine Deiminase Type 6White PeoplePADI4 protein, humanPADI6 protein, humanProtein-Arginine Deiminase Type 4Protein-Arginine Deiminase Type 6association studyepilepsyhuman genetics

Identifiers

PMID34573423
PMCPMC8472138
OpenAlexW3199680534

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.