Using phecodes for research with the electronic health record: from PheWAS to PheRS

L Bastarache - Annual review of biomedical data science, 2021 - annualreviews.org
Electronic health records (EHRs) are a rich source of data for researchers, but extracting
meaningful information out of this highly complex data source is challenging. Phecodes …

Multi-omics approaches for revealing the complexity of cardiovascular disease

S Doran, M Arif, S Lam, A Bayraktar… - Briefings in …, 2021 - academic.oup.com
The development and progression of cardiovascular disease (CVD) can mainly be attributed
to the narrowing of blood vessels caused by atherosclerosis and thrombosis, which induces …

Proprotein convertase subtilisin/kexin type 9 (PCSK9) in the central nervous system

AS Bell, J Wagner, DB Rosoff, FW Lohoff - Neuroscience & Biobehavioral …, 2023 - Elsevier
The gene encoding proprotein convertase subtilisin/kexin type 9 (PCSK9) and its protein
product have been widely studied for their role in cholesterol and lipid metabolism. PCSK9 …

[HTML][HTML] Proprotein convertase subtilisin/kexin type 9 (PCSK9) in the brain and relevance for neuropsychiatric disorders

EM O'Connell, FW Lohoff - Frontiers in neuroscience, 2020 - frontiersin.org
Proprotein convertase subtilisin/kexin type 9 (PCSK9) has long been studied in the liver due
to its regulation of plasma low-density lipoprotein cholesterol (LDL-C) and its causal role in …

[HTML][HTML] Proprotein convertase subtilisin kexin type 9 inhibitors reduce platelet activation modulating ox-LDL pathways

V Cammisotto, F Baratta, V Castellani… - International Journal of …, 2021 - mdpi.com
Background: Proprotein convertase subtilisin kexin type 9 inhibitors (PCSK9i) lower LDL-
cholesterol and slow atherosclerosis preventing cardiovascular events. While it is known …

Genetic predisposition in type 2 diabetes: a promising approach toward a personalized management of diabetes

MM Sirdah, NS Reading - Clinical Genetics, 2020 - Wiley Online Library
Diabetes mellitus, also known simply as diabetes, has been described as a chronic and
complex endocrine metabolic disorder that is a leading cause of death across the globe. It is …

Associations of genetically predicted Lp (a)(lipoprotein [a]) levels with cardiovascular traits in individuals of European and African Ancestry

BA Satterfield, O Dikilitas, MS Safarova… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: Lp (a)(lipoprotein [a]) levels are higher in individuals of African ancestry (AA)
than in individuals of European ancestry (EA). We examined associations of genetically …

Comprehensive assessment of the associations between maternal diabetes and structural birth defects in offspring: a phenome-wide association study

JM Schraw, PH Langlois, PJ Lupo - Annals of epidemiology, 2021 - Elsevier
Purpose Our objective was to comprehensively evaluate the risk of a broad range of birth
defects among offspring of women with diabetes, overall and stratified by pregestational …

Developing and evaluating pediatric phecodes (Peds-Phecodes) for high-throughput phenotyping using electronic health records

ME Grabowska, SL Van Driest… - Journal of the …, 2024 - academic.oup.com
Objective Pediatric patients have different diseases and outcomes than adults; however,
existing phecodes do not capture the distinctive pediatric spectrum of disease. We aim to …

[HTML][HTML] Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: a Mendelian randomization study

M Gormley, J Yarmolinsky, T Dudding, K Burrows… - PLoS …, 2021 - journals.plos.org
Head and neck squamous cell carcinoma (HNSCC), which includes cancers of the oral
cavity and oropharynx, is a cause of substantial global morbidity and mortality. Strategies to …