DNA sequencing in familial hypercholesterolaemia: the next generation

被引:2
作者
Lazarte, Julieta
Hegele, Robert A. [1 ]
机构
[1] Western Univ, Schulich Sch Med & Dent, Robarts Res Inst, Dept Med, 4288A-1151 Richmond St North, London, ON N6A 5B7, Canada
基金
加拿大健康研究院;
关键词
D O I
10.1093/eurjpc/zwaa044
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:873 / 874
页数:2
相关论文
共 12 条
[1]   Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association [J].
Brown, Emily E. ;
Sturm, Amy C. ;
Cuchel, Marina ;
Braun, Lynne T. ;
Duell, P. Barton ;
Underberg, James A. ;
Jacobson, Terry A. ;
Hegele, Robert A. .
JOURNAL OF CLINICAL LIPIDOLOGY, 2020, 14 (04) :398-413
[2]   Familial hypercholesterolaemia [J].
Defesche, Joep C. ;
Gidding, Samuel S. ;
Harada-Shiba, Mariko ;
Hegele, Robert A. ;
Santos, Raul D. ;
Wierzbicki, Anthony S. .
NATURE REVIEWS DISEASE PRIMERS, 2017, 3
[3]   Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias [J].
Dron, Jacqueline S. ;
Wang, Jian ;
McIntyre, Adam D. ;
Iacocca, Michael A. ;
Robinson, John F. ;
Ban, Matthew R. ;
Cao, Henian ;
Hegele, Robert A. .
BMC MEDICAL GENOMICS, 2020, 13 (01)
[4]   Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease A Systematic Review and Meta-Analysis [J].
Hu, Pengwei ;
Dharmayat, Kanika I. ;
Stevens, Christophe A. T. ;
Sharabiani, Mansour T. A. ;
Jones, Rebecca S. ;
Watts, Gerald F. ;
Genest, Jacques ;
Ray, Kausik K. ;
Vallejo-Vaz, Antonio J. .
CIRCULATION, 2020, 141 (22) :1742-1759
[5]   Recent advances in genetic testing for familial hypercholesterolemia [J].
Iacocca, Michael A. ;
Hegele, Robert A. .
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2017, 17 (07) :641-651
[6]   What Is Familial Hypercholesterolemia, and Why Does It Matter? [J].
Khera, Amit V. ;
Hegele, Robert A. .
CIRCULATION, 2020, 141 (22) :1760-1763
[7]   Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia [J].
Khera, Amit V. ;
Won, Hong-Hee ;
Peloso, Gina M. ;
Lawson, Kim S. ;
Bartz, Traci M. ;
Deng, Xuan ;
van Leeuwen, Elisabeth M. ;
Natarajan, Pradeep ;
Emdin, Connor A. ;
Bick, Alexander G. ;
Morrison, Alanna C. ;
Brody, Jennifer A. ;
Gupta, Namrata ;
Nomura, Akihiro ;
Kessler, Thorsten ;
Duga, Stefano ;
Bis, Joshua C. ;
van Duijn, Cornelia M. ;
Cupples, L. Adrienne ;
Psaty, Bruce ;
Rader, Daniel J. ;
Danesh, John ;
Schunkert, Heribert ;
McPherson, Ruth ;
Farrall, Martin ;
Watkins, Hugh ;
Lander, Eric ;
Wilson, James G. ;
Correa, Adolfo ;
Boerwinkle, Eric ;
Merlini, Piera Angelica ;
Ardissino, Diego ;
Saleheen, Danish ;
Gabriel, Stacey ;
Kathiresan, Sekar .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2016, 67 (22) :2578-2589
[8]   Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk [J].
Lee, Seohyuk ;
Akioyamen, Leo E. ;
Aljenedil, Sumayah ;
Riviere, Jean-Baptiste ;
Ruel, Isabelle ;
Genest, Jacques .
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, 2019, 26 (12) :1262-1270
[9]   Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning [J].
Pina, Ana ;
Helgadottir, Saga ;
Mancina, Rosellina Margherita ;
Pavanello, Chiara ;
Pirazzi, Carlo ;
Montalcini, Tiziana ;
Henriques, Roberto ;
Calabresi, Laura ;
Wiklund, Olov ;
Macedo, M. Paula ;
Valenti, Luca ;
Volpe, Giovanni ;
Romeo, Stefano .
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, 2020, 27 (15) :1639-1646
[10]   Next-generation sequencing to confirm clinical familial hypercholesterolemia [J].
Reeskamp, Laurens F. ;
Tromp, Tycho R. ;
Defesche, Joep C. ;
Grefhorst, Aldo ;
Stroes, Erik S. G. ;
Hovingh, G. Kees ;
Zuurbier, Linda .
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, 2021, 28 (08) :875-883