ArticleNPJ digital medicine2019
Finding missed cases of familial hypercholesterolemia in health systems using machine learning.
Article in NPJ digital medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 123 citations in OpenAlex.
- What is the impact of lipid-lowering therapies on cardiovascular disease incidence among women with familial hypercholesterolaemia: A systematic review.Women's health (London, England) · on this mapPooled it
- A Systematic Evaluation of Cohort Selection Criteria and Their Impact on Machine Learning Model Performance and Demographic Disparities in COVID-19 Outcomes: Cohort Study.JMIR formative research · 2026Article
- Opportunities and Challenges in Translating Genomics into Population Health Impact: Lessons from Familial Hypercholesterolemia.Public health genomics · 2026Review
- Prevalence of Familial Hypercholesterolemia and Its Association with Cardiovascular Risk in a Cross-Sectional Adult Population.Journal of clinical medicine · 2025Article
- Feasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia.Orphanet journal of rare diseases · 2025Article
- Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Novel strategies to FIND people living with genetic dyslipidemias: The family heart foundation flag, identify, network, and deliver (FIND) familial hypercholesterolemia collaborative learning network.American journal of preventive cardiology · 2025Review
- State-of-the-art review: The value of leveraging evidence and data (LEAD) in pediatric screening for familial hypercholesterolemia.American journal of preventive cardiology · 2025Review
- Monitoring strategies for continuous evaluation of deployed clinical prediction models.Journal of biomedical informatics · 2025Article
- Integrating New Technologies in Lipidology: A Comprehensive Review.Journal of clinical medicine · 2025Review
- Review
- Sex and racial differences in prevalence and clinical characteristics of people living with LDLR and PCSK9 familial hypercholesterolemia genetic variants: Data from the All of Us Research program.American journal of preventive cardiology · 2025Article
- Long noncoding RNAs in familial hypercholesterolemia: biomarkers, therapeutics, and AI in precision medicine.Lipids in health and disease · 2025Review
- Feasibility of Machine Learning Analysis for the Identification of Patients with Possible Primary Ciliary Dyskinesia.medRxiv : the preprint server for health sciences · 2025Article
- A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis.American journal of preventive cardiology · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- A qualitative study of perceptions of the care pathway for familial hypercholesterolemia: screening, diagnosis, treatment, and family cascade screening.Implementation science communications · 2024Article
- VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation.Orphanet journal of rare diseases · 2024Review
- Primary care clinician engagement in implementing a machine-learning algorithm for targeted screening of familial hypercholesterolemia.American journal of preventive cardiology · 2024Article
- Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?Journal of the American Heart Association · 2024Article
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 2 countries.
Funding
Abstract
Familial hypercholesterolemia (FH) is an underdiagnosed dominant genetic condition affecting approximately 0.4% of the population and has up to a 20-fold increased risk of coronary artery disease if untreated. Simple screening strategies have false positive rates greater than 95%. As part of the FH Foundation's FIND FH initiative, we developed a classifier to identify potential FH patients using electronic health record (EHR) data at Stanford Health Care. We trained a random forest classifier using data from known patients (
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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.