Evidence map›Paper›PMID 32887425›Full record

ArticleGenes2020

A Missense Variant in

Karen M Vernau, Eduard Struys, Anna Letko, Kevin D Woolard, Miriam Aguilar, Emily A Brown, Derek D Cissell, Peter J Dickinson, G Diane Shelton, Michael R Broome and 12 more

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

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 13% 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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. 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

22 authors at 10 institutions in 5 countries.

Karen M VernauDepartment of Surgical and Radiological Sciences, University of California Davis, Davis, CA 95616, USA.
Eduard StruysDepartment of Clinical Chemistry, VU University Medical Center, 1081 HV Amsterdam, The Netherlands.
Anna LetkoInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0002-6521-1285
Kevin D WoolardDepartment of Pathology, Microbiology and Immunology, University of California Davis, Davis, CA 95616, USA.
Miriam AguilarDepartment of Population Health and Reproduction, University of California Davis, Davis, CA 95616, USA.
Emily A BrownDepartment of Population Health and Reproduction, University of California Davis, Davis, CA 95616, USA.
Derek D CissellDepartment of Surgical and Radiological Sciences, University of California Davis, Davis, CA 95616, USA.
Peter J DickinsonDepartment of Surgical and Radiological Sciences, University of California Davis, Davis, CA 95616, USA.ORCID 0000-0002-0037-2619
G Diane SheltonDepartment of Pathology, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-3332-1359
Michael R BroomeAdvanced Veterinary Medical Imaging, Tustin, CA 92780, USA.
K Michael GibsonCollege of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA 99202, USA.
Phillip L PearlHarvard Medical School, Boston, MA 02115, USA.
Florian KönigFachtierarzt fur Kleintiere, Am Berggewann 13, 65199 Wiesbaden, Germany.
Thomas J Van WinkleDepartment of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Dennis O'BrienCollege of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.
B RoosDepartment of Clinical Chemistry, VU University Medical Center, 1081 HV Amsterdam, The Netherlands.
Kaspar MatiasekClinical and Comparative Neuropathology, Ludwig-Maximilians-Universitaet München, 80539 Munchen, Germany.
Vidhya JagannathanInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0002-8155-0041
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.ORCID 0000-0001-9773-522X
Tamer A MansourDepartment of Population Health and Reproduction, University of California Davis, Davis, CA 95616, USA.ORCID 0000-0002-4747-4241
C Titus BrownDepartment of Population Health and Reproduction, University of California Davis, Davis, CA 95616, USA.
Danika L BannaschDepartment of Population Health and Reproduction, University of California Davis, Davis, CA 95616, USA.ORCID 0000-0002-7614-7207
University of California, Davis · USUniversity of Bern · CHAmsterdam UMC Location Vrije Universiteit Amsterdam · NLHarvard University · USLudwig-Maximilians-Universität München · DEMansoura University · EGMissouri College · USUniversity of California San Diego · USUniversity of Pennsylvania · USWashington State University Spokane · US

Funding

Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2M
NICHD NIH HHS U54 HD090255
6 · The paper itself

Abstract

Dogs provide highly valuable models of human disease due to the similarity in phenotype presentation and the ease of genetic analysis. Seven Saluki puppies were investigated for neurological abnormalities including seizures and altered behavior. Magnetic resonance imaging showed a diffuse, marked reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity in specific brain regions. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy. Genome-wide association study of 7 affected and 28 normal Salukis revealed a genome-wide significantly associated region on CFA 35. Whole-genome sequencing of three confirmed cases from three different litters revealed a homozygous missense variant within the aldehyde dehydrogenase 5 family member A1 (

Indexed as

Amino Acid Metabolism, Inborn ErrorsAmino Acid SequenceAnimalsBrainCerebrospinal FluidDevelopmental DisabilitiesDisease Models, AnimalDogsFemalegamma-Aminobutyric AcidGenetic TestingGenome-Wide Association StudyMaleMetabolic Networks and PathwaysMutation, MissensePhenotypegamma-Aminobutyric AcidSuccinate-Semialdehyde Dehydrogenase4-hydroxybutyric acidALDH5A1encephalopathyGABAGWASinborn error of metabolisminheritedprecision medicineSSADHDsuccinic semialdehydewhole-genome sequencing

Identifiers

PMID32887425
PMCPMC7565783
OpenAlexW3082899904

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.