Search Results - "Wilemon, Katherine A"
-
1
ClinVar database of global familial hypercholesterolemia‐associated DNA variants
Published in Human mutation (01-11-2018)“…Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved…”
Get full text
Journal Article -
2
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening
Published in Journal of the American Heart Association (04-07-2023)“…Background Data mining of electronic health records to identify patients suspected of familial hypercholesterolemia (FH) has been limited by absence of both…”
Get full text
Journal Article -
3
A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model
Published in American journal of preventive cardiology (01-06-2021)“…The Dutch cascade screening model for FH was the most successful of such programs in the world. It remains unclear whether aspects of the Dutch model (i.e…”
Get full text
Journal Article -
4
Patient experiences align with the familial hypercholesterolemia global call to action
Published in American journal of preventive cardiology (01-06-2022)“…To explore alignment of perspectives from individuals and families with familial hypercholesterolemia (FH) to the FH Global Call to Action recommendations…”
Get full text
Journal Article -
5
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel
Published in Journal of the American College of Cardiology (07-08-2018)“…Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH…”
Get full text
Journal Article -
6
Clinical Genetic Testing for Familial Hypercholesterolemia
Published in Journal of the American College of Cardiology (01-08-2018)“…Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH…”
Get full text
Journal Article -
7
Women Living with Familial Hypercholesterolemia: Challenges and Considerations Surrounding Their Care
Published in Current atherosclerosis reports (20-08-2020)“…Purpose of Review To highlight the gender-based differences in presentation and disparities in care for women with familial hypercholesterolemia (FH). Recent…”
Get full text
Journal Article -
8
Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature
Published in Health Affairs (01-05-2018)“…Cascade screening is the process of contacting relatives of people who have been diagnosed with certain hereditary conditions. Its purpose is to identify,…”
Get full text
Journal Article -
9
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
Published in JAMA cardiology (01-02-2020)“…Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to…”
Get more information
Journal Article -
10
Access to Nonstatin Lipid-Lowering Therapies in Patients at High Risk of Atherosclerotic Cardiovascular Disease
Published in Circulation (New York, N.Y.) (30-05-2017)Get full text
Journal Article -
11
-
12
-
13
Characterization of Lipoprotein(a) Measurement in a Large US Healthcare Dataset
Published in Metabolism, clinical and experimental (01-05-2023)Get full text
Journal Article -
14
Abstract 16133: Lipoprotein(a) Screening Practices in a Large US Healthcare Dataset
Published in Circulation (New York, N.Y.) (07-11-2023)“…Abstract only Introduction/Background: Elevated Lipoprotein(a) [Lp(a)] is an independent, genetically determined, causal risk factor for atherosclerotic…”
Get full text
Journal Article -
15
Abstract 12665: Using Healthcare Claims Data and Machine Learning to Identify Health Disparities for Individuals With Diagnosed and Undiagnosed Familial Hypercholesterolemia
Published in Circulation (New York, N.Y.) (08-11-2022)“…IntroductionIndividuals with Familial Hypercholesterolemia (FH) warrant intensive lipid lowering therapy starting with statins and adding ezetimibe and PCSK9…”
Get full text
Journal Article -
16
-
17
Abstract 9584: Familial Hypercholesterolemia Patient Perspectives and their Alignment With the FH Global Call to Action
Published in Circulation (New York, N.Y.) (16-11-2021)“…IntroductionFamilial hypercholesterolemia (FH) is an inherited disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular…”
Get full text
Journal Article -
18
-
19
-
20
Abstract 9822: Yield of a Familial Hypercholesterolemia Genetic Diagnosis After Electronic Health Record and Genomic Data Screening
Published in Circulation (New York, N.Y.) (08-11-2022)“…BackgroundData mining of electronic health records (EHR) has been used as a strategy to identify patients with undiagnosed familial hypercholesterolemia (FH)…”
Get full text
Journal Article