Genetics

1. AI-MARRVEL (AIM), a new artificial intelligence (AI) system, was trained using samples diagnosed by experts from the American Board...

1. In this genetic association study, among 209 537 participants, a protein-truncating variant (PTV) was identified in 0.4% of individuals,...

1. Some CHEK2 alleles were shown to have a high-risk association of breast cancer compared to other alleles that were...

1. This prospective case-control study demonstrated that approximately 20% of patients with spontaneous coronary artery dissection with high-risk features had...

 1. Compared to unaffected children, children with inborn errors of metabolism have significantly elevated risk of mortality (21.2 times risk) before...

 1. In this retrospective study, newborn screening for cystic fibrosis in the United States lead to improve nutritional status with higher...

1. Median delays in achieving key developmental milestones varied between 0.7 and 19.7 months for children with autism compared to...

1. Comprehensive genetic testing for cardiomyopathy and arrhythmia diagnoses improved the ability to detect underlying conditions which may have otherwise...

1. In a prospective implementation trial, more than 400 infants were tested for the MT-RNR1 m.1555A>G variant using a point-of-care...

1. A randomized, split-block psychological experiment utilizing clinical vignettes provides evidence that genetic studies influence neonatologists’ decision-making for critically ill...