Evidence map›Paper›PMID 14519848›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2003

A strabismus susceptibility locus on chromosome 7p.

Vaishali Parikh, Yin Yao Shugart, Kimberly F Doheny, Jie Zhang, Lan Li, John Williams, David Hayden, Brian Craig, Hilda Capo, Denise Chamblee and 20 more

Erratum issuedOpen access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 41% 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

30 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Observational
  4. Article
  5. Genetics of strabismus.Frontiers in ophthalmology · 2023
    Article
  6. Article
  7. Article
  8. Association ofMolecular vision · 2022
    Article
  9. Article
  10. Article
  11. Article
  12. Observational
  13. Recurrent Rare Copy Number Variants Increase Risk for Esotropia.Investigative ophthalmology & visual science · 2020
    Article
  14. Article
  15. Article
  16. Article
  17. Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing.Medical science monitor : international medical journal of experimental and clinical research · 2017
    Article
  18. PeerJ · 2017
    Article
  19. Article
  20. Article
4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

30 authors at 2 institutions in 1 country.

Vaishali ParikhDepartments of Molecular Biology and Genetics, Neuroscience, and Ophthalmology, and Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Yin Yao Shugart
Kimberly F Doheny
Jie Zhang
Lan Li
John Williams
David Hayden
Brian Craig
Hilda Capo
Denise Chamblee
Cathy Chen
Mary Collins
Stuart Dankner
Dean Fiergang
David Guyton
David Hunter
Marcia Hutcheon
Marshall Keys
Nancy Morrison
Michelle Munoz
Marshall Parks
David Plotsky
Eugene Protzko
Michael X Repka
Maria Sarubbi
Bruce Schnall
R Michael Siatkowski
Elias Traboulsi
Joanne Waeltermann
Jeremy Nathans
Cleveland Clinic · USHarvard University Press · US

Funding

GENOTYPING FOR LOCATING HUMAN DISEASE GENESN01HG065403 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID L · 1996 to 2000
$1.7M
NHGRI NIH HHS N01 HG065403NHGRI NIH HHS N01 HG 65403
6 · The paper itself

Abstract

Strabismus has been known to have a significant genetic component, but the mode of inheritance and the identity of the relevant genes have been enigmatic. This paper reports linkage analysis of nonsyndromic strabismus. The principal results of this study are: (i) the demonstrated feasibility of identifying and recruiting large families in which multiple members have (or had) strabismus; (ii) the linkage in one large family of a presumptive strabismus susceptibility locus to 7p22.1 with a multipoint logarithm of odds score of 4.51 under a model of recessive inheritance; and (iii) the failure to observe significant linkage to 7p in six other multiplex families, consistent with genetic heterogeneity among families. These findings suggest that it will be possible to localize and ultimately identify strabismus susceptibility genes by linkage analysis and mutation screening of candidate genes.

Indexed as

Chromosome MappingChromosomes, Human, Pair 7FemaleGenes, RecessiveGenetic MarkersHaplotypesHumansMaleModels, GeneticPedigreeStrabismusGenetic Markers

Identifiers

PMID14519848
PMCPMC218750
OpenAlexW2087723810

What OpenQuestion holds

Textmetadata
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.