Explore the latest in genetics and genomics, including cancer genetics, neurogenetics, and pharmacogenetics.
This study describes the characteristics of amyloid-related imaging abnormalities and risk factors and clinical consequences of amyloid-related imaging abnormalities-edema.
This cross-sectional study evaluates the association of BAG3 genetic variation with penetrance and longitudinal outcomes of dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).
This cohort study examines the association of age with late distant recurrence in patients aged 45 years or younger with estrogen receptor (ER)鈥損ositive, ERBB2-negative breast cancer.
This study investigates the genetic detection rates of wide-panel testing in Black and non-Hispanic White patients with IRDs.
This cross-sectional study examines the association of polygenic risk scores for self-reported hearing difficulty in adults with hearing loss phenotypes in childhood.
This case series examines treatment with anti鈥損rogrammed cell death 1 (PD1) immunotherapy for patients with basal cell nevus syndrome.
This genomewide association study examined specific genetic variants, pathways, and tissues associated with aortic stenosis independent of coronary artery disease in a meta-analysis of participants from 3 European cohorts.
This cohort study analyzes the rates at which clinical genetic variants are reclassified and the types of evidence that enable reclassification among individuals who undergo genetic testing for hereditary disease.
This cross-sectional study reports on environmental heat and cold exposure鈥搑elated burden and analyzes its temporal trends among children and adolescents from 1990 to 2019 using data from the Global Burden of Disease Study 2019.
This cohort study assesses clinical evidence from patients with advanced lung adenocarcinoma and compares the detection of National Comprehensive Cancer Network鈥搑ecommended actionable structural variants (aSVs) via concurrent DNA next-generation sequencing (NGS) and RNA-NGS vs DNA-NGS alone.
This cross-sectional study evaluates longitudinal cancer mortality trends among Asian American and Pacific Islander populations in the US by demographic characteristics.
In this narrative medicine essay, a pediatrician thwarted a likely fatal cancer after undergoing genetic testing after noticing a pattern in her family that turned out to be caused by a genetic variation.
This genetic association study examined the associations between sexual trauma, polygenic liability to mental health outcomes, and clinical diagnoses of schizophrenia, bipolar disorder, and major depressive disorder in a clinical biobank setting.
This cohort study examines the association between male gender expressivity--a measure reflecting sociocultural pressures to convey male gender identity--during adolescence and adulthood and diagnosis and treatment of cardiovascular disease (CVD) risks in men.
This genetic association study investigates whether GLP1R gene expression as a proxy for glucagon-like peptide 1 receptor agonists is associated with reductions in kidney disease progression.
This secondary analysis of a randomized clinical trial reports primary care clinician outcomes of decision support tools for referral of patients with potential BRCA1/2 mutations for genetic counseling.
This multisite, single-group, prospective, observational study examines the feasibility and potential impact of genomic newborn screening using dried blood spots in a racially and ethnically diverse population from New York State.
This cohort study examined the yield and use of genome sequencing after nondiagnostic exome sequencing for pediatric patients with unexplained epilepsy between August 2018 and May 2023.
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