Last Posted: Jan 25, 2022
- [Experiences from a multidisciplinary cardiogenetic clinic].
Mörner Stellan et al. Lakartidningen 2022 118
- Index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes
M Abedalthagafi, EJHG, January 22, 2022
- Detection of Familial Hypercholesterolemia through centralized analytical data. HF HUELVA DETECTA Program.
Gutiérrez-Cortizo Eva Nadiejda et al. Endocrinologia, diabetes y nutricion 2021 68(7) 450-457
- MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants.
Larrea-Sebal Asier et al. JACC. Basic to translational science 2021 6(11) 815-827
- A Mini-Symposium: Implementing Precision and Equitable Public Health in Cascade Testing for Genetic Disorders
CDC event, Feb 10, 2022
- Bicuspid Aortic Valve: Genetic and Clinical Insights.
Tessler Idit et al. Aorta (Stamford, Conn.) 2021 9(4) 139-146
- Studies Focus on Testing Family Members of Cancer Gene Carriers
NCI, November 2021
- A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial
LM van den Heuvel et al, EJHG, November 24, 2021
- Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives.
Salikhanov Islam et al. Journal of medical genetics 2021
- Coping response and family communication of cancer risk in men harboring a BRCA mutation: A mixed methods study.
Dwyer Andrew A et al. Psycho-oncology 2021
- Familial hypercholesterolemia (FH) registry worldwide: A systematic review.
Amerizadeh Atefeh et al. Current problems in cardiology 2021 100999
- Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.
Schultze-Berndt Alina et al. Frontiers in pediatrics 2021 9722926
- Prevention of Atherosclerotic Cardiovascular Disease in Children with Familial Hypercholesterolemia.
Peterson Amy L et al. Current atherosclerosis reports 2021 23(10) 64
- Cascade health service use in family members following genetic testing in children: a scoping literature review
A Cernat et al, EJHG, August 26, 2021
- A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model.
McGowan Mary P et al. American journal of preventive cardiology 2021 6100170
- Outcomes from a pilot genetic counseling intervention using motivational interviewing and the extended parallel process model to increase cascade cholesterol screening.
Baldry Emma et al. Journal of genetic counseling 2021
- Family Sharing Tools
The FH Foundation, July 2021
- Cost-effectiveness analysis of screening for first-degree relatives of patients with bicuspid aortic valve.
Tessler Idit et al. European heart journal. Quality of care & clinical outcomes 2021
- Familial Hypercholesterolemia (FH) in Iran: Findings from the Four-Year FH Registry.
Vaseghi Golnaz et al. Journal of lipids 2021 20219913969
- Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study.
Jones Laney K et al. Journal of personalized medicine 2021 11(6)
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