ArticleGenetics in medicine : official journal of the American College of Medical Genetics2005
Fragile X syndrome: diagnostic and carrier testing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03829176 (Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder), which is not on this map. Cited by 112 papers, 4 of them syntheses that pooled 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.
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.
Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder
Who cites it
112 citing papers in PubMed, 4 syntheses or guidelines pooled it, 277 citations in OpenAlex.
- The impact of FMR1 gene mutations on human reproduction and development: a systematic review.Journal of assisted reproduction and genetics · 2016Pooled it
- 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 · 2013Guideline
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.Genetics in medicine : official journal of the American College of Medical GeneticsGuideline
- Phenotypic variability of Fragile-X syndrome in Asian population: A systematic review.Intractable & rare diseases research · 2026Review
- Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women.Human reproduction (Oxford, England) · 2026Article
- Interaction between neuromuscular junction metabolic requirements in fragile X syndrome and glycogen storage disease models.Disease models & mechanisms · 2025Article
- Article
- Changing Etiological Spectrum of Premature Ovarian Insufficiency over the Past Decades: A Comparative Analysis of Two Cohorts from a Single Center.Diagnostics (Basel, Switzerland) · 2025Article
- Prevalence of fragile X syndrome in South Asia, and importance of diagnosis.Medical review (2021) · 2025Review
- Prevalence and implications of fragile X premutation screening in Thailand.Scientific reports · 2024Article
- Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions.Emerging topics in life sciences · 2023Review
- Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.Journal of assisted reproduction and genetics · 2023Article
- Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).Journal of medical genetics · 2023Article
- Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review.Journal of applied genetics · 2023Review
- Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.Pediatric research · 2023Article
- Advancing artificial intelligence-assisted pre-screening for fragile X syndrome.BMC medical informatics and decision making · 2022Article
- Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.BMC women's health · 2022Article
- Understanding the Molecular Basis of Fragile X Syndrome Using Differentiated Mesenchymal Stem Cells.Iranian journal of child neurology · 2022Article
- Men with an FMR1 premutation and their health education needs.Journal of genetic counseling · 2021Article
52 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.