ArticleAmerican journal of medical genetics. Part A2013
Newborn screening and cascade testing for FMR1 mutations.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Family genetic risk communication and reverse cascade testing in the BabySeq project.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- High performing male with fragile X syndrome with an unmethylatedClinical case reports · 2023Article
- Clinical application value of expanded carrier screening in the population of childbearing age.European journal of medical research · 2023Article
- Cascade health service use in family members following genetic testing in children: a scoping literature review.European journal of human genetics : EJHG · 2021Article
- Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.International journal of neonatal screening · 2018Article
- Age-related functional brain changes inNeuroImage. Clinical · 2018Article
- Implications of thePediatrics · 2017Review
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- Family Communication and Cascade Testing for Fragile X Syndrome.Journal of genetic counseling · 2016Article
- Identification of a male with fragile X syndrome through newborn screening.Intractable & rare diseases research · 2015Article
- Article
- Fragile X-associated tremor/ataxia syndrome.Annals of the New York Academy of Sciences · 2015Review
- Climbing the branches of a family tree: diagnosis of fragile X syndrome.The Journal of pediatrics · 2014Article
- Hypertrophic cardiomyopathy: how do mutations lead to disease?Arquivos brasileiros de cardiologia · 2014Review
- Modulation of the GABAergic pathway for the treatment of fragile X syndrome.Neuropsychiatric disease and treatment · 2014Review
- Visual motion processing deficits in infants with the fragile X premutation.Journal of neurodevelopmental disorders · 2014Article
- Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.Journal of human genetics · 2013Article
- FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.Genome medicine · 2012Article
- [Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].Developmental period medicineReview
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
We describe an ongoing pilot project in which newborn screening (NBS) for FMR1 mutations and subsequent cascade testing are performed by the MIND Institute at the University of California, Davis Medical Center (UCDMC). To date, out of 3,042 newborns initially screened, 44 extended family members have been screened by cascade testing of extended family members once a newborn is identified. Fourteen newborns (7 males and 7 females) and 27 extended family members (5 males and 22 females) have been identified with FMR1 mutations. Three family histories are discussed in detail, each demonstrating some benefits and risks of NBS and cascade testing for FMR1 mutations in extended family members. While we acknowledge inherent risks, we propose that with genetic counseling, clinical follow-up of identified individuals and cascade testing, NBS has significant benefits. Treatment for individuals in the extended family who would otherwise not have received treatment can be beneficial. In addition, knowledge of carrier status can lead to lifestyle changes and prophylactic interventions that are likely to reduce the risk of late onset neurological or psychiatric problems in carriers. Also with identification of carrier family members through NBS, reproductive choices become available to those who would not have known that they were at risk to have offspring with fragile X syndrome.
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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.