Human genetics
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- Sex differences in the genetic architecture of clinical quantitative traits in the electronic health record
- Alzheimer's Polygenic Risk Scores Are Not Interchangeable: Evidence from 1,752 Models
- When to return genomic newborn screening results: health care professional perspectives
- MAP3K7 Loss of Function Causes Dilated Cardiomyopathy
- Genetic and behavioural architecture of childhood eating behaviour and links to obesity risk
- Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
- ITGBL1 inhibits obesity and osteoporosis by maintaining adipogenic and osteogenic differentiation balance via the NEDD4–PPARγ–RUNX2 axis
- Defining and predicting disease progression in myeloproliferative neoplasms: a proposed biomarker-driven approach
- Periprocedural management of patients with hereditary angioedema undergoing coronary angiography and percutaneous coronary intervention
- Serum β2-microglobulin as a marker of renal tubular damage in transfusion-dependent β-thalassemia.
- Pharmacological Activation of Autophagy Ameliorates Neuromuscular-Associated Defects and Extends Lifespan in a Caenorhabditis elegans Model of Spinal Muscular Atrophy.
- Baseline intratumoral TCRbeta; and TCRgamma; repertoires predict response to immune checkpoint inhibitors in advanced renal cell carcinoma
- Field-of-view confounding shapes genetic discovery from self-supervised cardiac-imaging phenotypes
- Cell-type-resolved somatic variant discovery from bulk long-read sequencing
- Causal roles of phenotypic age and metabolic health on dementia: a Mendelian randomisation and structure learning study
- A Randomized Non-Inferiority Trial of an eHealth Delivery Alternative for Cancer Genetic Testing for Hereditary Cancer (eREACH2)
- Relation of Self-Reported Race and Genetic Ancestry to Hypertension Prevalence Among Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos
- Pleiotropic genetic architecture linking schizophrenia and substance use disorders
- Using sequence-to-function models to interpret archaic hominin introgression
- Long-Term Impact of Cumulative Hyperglycaemia on DNA Methylation and its Role in Diabetic Kidney Disease
- Molecular Underpinnings of Retinal Traits 1 Shared with Major Psychiatric Disorders
- Allele burden expansion in JAK2 V617F and CALR ‐mutated myeloproliferative neoplasms predicts disease progression and is associated with anagrelide treatment
- Making Accelerating Medicines Partnership Data Findable and Interoperable through a Common Data Model: Extending OMOP for Multi-Source Multimodal Data
- Abnormal Enamel Mineralization and Hypercalcemia due to GNA11 Variants
- A novel framework leveraging non-causal associations reveals shared pathways linking inflammation and cancer risk