Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines.

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.

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.

Who cites it

34 citing papers in PubMed, 1 synthesis or guideline pooled it.

1. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2013
   Guideline
2. The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.Cerebellum (London, England) · 2024
   Article
3. Mechanisms of robustness in gene regulatory networks involved in neural development.Frontiers in molecular neuroscience · 2023
   Review
4. Ovarian Reserve Disorders, Can We Prevent Them? A Review.International journal of molecular sciences · 2022
   Review
5. Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022
   Article
6. FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China.World journal of pediatrics : WJP · 2021
   Article
7. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021
   Article
8. The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?Molecular human reproduction · 2020
   Review
9. Frontiers in genetics · 2019
   Review
10. A Single Common Assay for Robust and Rapid Fragile X Mental Retardation Syndrome Screening From Dried Blood Spots.Frontiers in genetics · 2018
    Article
11. Human DNA Helicase B as a Candidate for Unwinding Secondary CGG Repeat Structures at theFrontiers in molecular neuroscience · 2018
    Article
12. Detection of long repeat expansions from PCR-free whole-genome sequence data.Genome research · 2017
    Article
13. Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.Frontiers in molecular neuroscience · 2017
    Review
14. FMR1 CGG Repeats: Reference Levels and Race-Ethnic Variation in Women With Normal Fertility (Study of Women's Health Across the Nation).Reproductive sciences (Thousand Oaks, Calif.) · 2016
    Article
15. Correlation of normal-range FMR1 repeat length or genotypes and reproductive parameters.Journal of assisted reproduction and genetics · 2016
    Article
16. A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015
    Article
17. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.European journal of human genetics : EJHG · 2015
    Article
18. Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.Health expectations : an international journal of public participation in health care and health policy · 2015
    Article
19. Attitudes towards potentially carrying the FMR1 premutation: before vs after testing of non-carrier females with diminished ovarian reserve.Journal of genetic counseling · 2014
    Article
20. The FMR1 gene, infertility, and reproductive decision-making: a review.Frontiers in genetics · 2014
    Review

Corrections and comments

• Comment on
  Fragile X syndrome: diagnostic and carrier testing.2005
• Comment on
  Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.

Authors and funding

3 authors.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

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