Evidence map›Paper›PMID 22767137›Full record

ArticleJournal of autism and developmental disorders2013

Identification of expanded alleles of the FMR1 Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) study.

Flora Tassone, Nimrah S Choudhary, Federica Tassone, Blythe Durbin-Johnson, Robin Hansen, Irva Hertz-Picciotto, Isaac Pessah

Abstract read
In one paragraph

Article in Journal of autism and developmental disorders, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.4field-weighted citation impact, top 31% 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

10 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Review
  3. Screening forBioMed research international · 2021
    Article
  4. Review
  5. Review
  6. Article
  7. FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
  8. Article
  9. Review
  10. 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

7 authors at 3 institutions in 1 country.

Flora TassoneDepartment of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, 2700 Stockton Blvd, Suite 2102, Sacramento, CA 95817, USA. ftassone@ucdavis.edu
Nimrah S Choudhary
Federica Tassone
Blythe Durbin-Johnson
Robin Hansen
Irva Hertz-Picciotto
Isaac Pessah
University of California, Davis · USUC Davis Children's Hospital · USUC Davis Health · US

Funding

Restoring FMRP Phenotypes Frpm Temporal Regional and Splice- Isoforms VarationsP30HD002274 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 1985 to 2013
$33.6M
UC DAVIS CLINICAL AND TRANSLATIONAL SCIENCE CENTER: BPCAUL1RR024146 · NCRR · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BERGLUND, LARS F · 2006 to 2011
$27.0M
THE CHARGE STUDY: CHILDHOOD AUTISM RISKS FROM GENETICS AND THE ENVIRONMENT - ADMINISTRATIVE SUPPLEMENTR01ES015359 · NIEHS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI HERTZ-PICCIOTTO, IRVA · 2007 to 2019
$13.8M
UC Davis Center for Children's Environmental Health (CCEH)P01ES011269 · NIEHS · UNIVERSITY OF CALIFORNIA DAVIS · PI VAN DE WATER, JUDY A. · 2001 to 2018
$12.5M
UC Davis Clinical and Translational Science CenterUL1TR000002 · NCATS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI BERGLUND, LARS F · 2012 to 2015
$12.2M
NCATS NIH HHS UL1 TR000002NCRR NIH HHS UL1 RR024146NICHD NIH HHS HD02274NICHD NIH HHS P30 HD002274NIEHS NIH HHS P01 ES011269NIEHS NIH HHS P01ES011269NIEHS NIH HHS R01 ES015359NIEHS NIH HHS R01-ES015359
6 · The paper itself

Abstract

Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (>200 repeats) in the 5'UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies for FXS, among individuals with ID from different ethnic populations, have indicated that the prevalence of the syndrome varies between 0.5 and 16 %. Because the high co-morbidity with autism, we have conducted a screening study of the cohort from CHARGE, a large-scale, population-based, case control study. We have identified six subjects carrying an expanded allele, which emphasize the importance of screening for FXS in a population with intellectual disabilities and ASD.

Indexed as

AllelesGenetic Predisposition to DiseaseCase-Control StudiesChildChild, PreschoolFemaleFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeGenetic TestingGenotypeHumansMaleTrinucleotide Repeat ExpansionTrinucleotide RepeatsFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1

Identifiers

PMID22767137
PMCPMC4596818
OpenAlexW2075475113

What OpenQuestion holds

Textmetadata
LicenceTDM
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.