ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
13 citing papers in PubMed, 24 citations in OpenAlex.
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- Fragile X Syndrome in Adulthood: A Study of Electronic Health Records.American journal on intellectual and developmental disabilities · 2026Article
- Predicting neurodevelopmental disorders using machine learning models and electronic health records - status of the field.Journal of neurodevelopmental disorders · 2024Review
- Ontologizing health systems data at scale: making translational discovery a reality.NPJ digital medicine · 2023Article
- Improving Retention of Diverse Samples in Longitudinal Research on Developmental Disabilities.American journal on intellectual and developmental disabilities · 2023Article
- The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women.SSM - population health · 2022Article
- Good quality practices for artificial intelligence in genetics.European journal of human genetics : EJHG · 2022Article
- Article
- Advancing artificial intelligence-assisted pre-screening for fragile X syndrome.BMC medical informatics and decision making · 2022Article
- Bringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseases.Journal of neurodevelopmental disorders · 2022Review
- Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems.JAMA network open · 2021Article
- Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments.Frontiers in psychiatry · 2021Review
- Screening forBioMed research international · 2021Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
purposeFragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains underdiagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked disorder on the health of affected individuals is unclear and the prevalence of co-occurring conditions is unknown.
methodsWe mined the longitudinal electronic health records from more than one million individuals to investigate the health characteristics of patients who have been clinically diagnosed with FXS. Additionally, using machine-learning approaches, we created predictive models to identify individuals with FXS in the general population.
resultsOur discovery-oriented approach identified the associations of FXS with a wide range of medical conditions including circulatory, endocrine, digestive, and genitourinary, in addition to mental and neurological disorders. We successfully created predictive models to identify cases five years prior to clinical diagnosis of FXS without relying on any genetic or familial data.
conclusionAlthough FXS is often thought of primarily as a neurological disorder, it is in fact a multisystem syndrome involving many co-occurring conditions, some primary and some secondary, and they are associated with a considerable burden on patients and their families.
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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.