Genetic TestsEvidence & Dosage

Top studies on Genetic Tests

Ranked by influential-citation count and publication year.

1. 01

   Trends in Availability of Genetic Tests in the United States, 2012-2022.

   ·202351 influential citations

   Globally, genetic testing has become increasingly used over the last two decades. As a result of the rapid development of genetic tests, the Genetic Testing Registry was created in the United States to provide transparent information on…

2. 02

   Sudden Cardiac Death, Post-Mortem Investigation: A Proposing Panel of First Line and Second Line Genetic Tests.

   ·202432 influential citations

   Investigating the causes of Sudden cardiac death (SCD) is always difficult; in fact, genetic cardiac conditions associated with SCD could be "silent" even during autopsy investigation. In these cases, it is important to exclude other…

3. 03

   Many direct-to-consumer canine genetic tests can identify the breed of purebred dogs.

   ·202414 influential citations

   <h4>Objective</h4>To compare pedigree documentation and genetic test results to evaluate whether user-provided photographs influence the breed ancestry predictions of direct-to-consumer (DTC) genetic tests for dogs.<h4>Animals</h4>12…

4. 04

   Changes in acceptability, consideration, intention, and uptake of direct-to-consumer genetic tests in the Netherlands from 2017 to 2022.

   ·2025·n=10,0004 influential citations

   Although the popularity of direct-to-consumer genetic tests (DTC-GT) for disease-related purposes increased, concerns persist whether consumers make well-informed decisions about their purchase. To better target pre- and post-test…

5. 05

   The epistemic harms of direct-to-consumer genetic tests.

   ·20232 influential citations

   In this paper, I provide an epistemic evaluation of the harms that result from the widespread marketing of direct-to-consumer (DTC) genetic tests. While genetic tests are a valuable accessory diagnostic tool when ordered by a medical…

6. 06

   Personalized Decision-Making in Risk-Reducing Surgery of the Ovaries.

   JAMA network open·2026·n=3551 influential citations

   <h4>Importance</h4>Premenopausal women at familial or hereditary risk of ovarian cancer must weigh the risks and benefits of risk-reducing surgery. How they navigate this decision is not well understood.<h4>Objective</h4>To assess the…

7. 07

   Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.

   Journal of the Endocrine Society·2026·n=171 influential citations

   <h4>Context</h4>Recent genetic discoveries in congenital hyperinsulinism (HI) and advances in sequencing technology suggest that the diagnostic yield may be improved by rescreening in people with genetically unsolved…

8. 08

   Interpretation of constitutional cancer predisposition gene variants in 14&#x2008;765 individuals in the 100&#x2008;000 Genomes Project cancer arm: a retrospective cohort analysis.

   The Lancet. Oncology·2026·n=7651 influential citations

   <h4>Background</h4>Cancer predisposition due to constitutional (germline) genetic variants in high-risk or moderate-risk cancer predisposition genes presents clinical opportunities for risk mitigation. Focusing genetic testing only on…

9. 09

   Interpreting MYH11 Copy Number Variation in Thoracic Aortic Aneurysm and Dissection: Insights From the Misannotation of Variants in Clinical Genetic Tests.

   ·2025·n=4161 influential citations

   Thoracic aortic aneurysm and dissection (TAAD) is a rare but often fatal vascular disease. A family history of TAAD increases risk, and several genes are linked to risk of both aneurysm and dissection. The current AHA/ACC guidelines for…

10. 10

    Impact of FSHB and FSHR Genes Polymorphisms on Hormonal Profile and Sperm Retrieval Outcome in Men With Klinefelter Syndrome: A Clinical-Genetic Predictive Study.

    Andrology·2026·n=417E

    Genetic variability within the follicle-stimulating hormone (FSH)-related genes might contribute to phenotypic heterogeneity in patients with Klinefelter syndrome (KS), yet its clinical impact on sperm retrieval remains unclear. To…