ClinVar database of global familial hypercholesterolemia‐associated DNA variants

Author:

Iacocca Michael A.1,Chora Joana R.23ORCID,Carrié Alain45,Freiberger Tomáš67,Leigh Sarah E.8,Defesche Joep C.9,Kurtz C. Lisa10,DiStefano Marina T.11ORCID,Santos Raul D.12ORCID,Humphries Steve E.13ORCID,Mata Pedro14,Jannes Cinthia E.12,Hooper Amanda J.15,Wilemon Katherine A.16ORCID,Benlian Pascale17ORCID,O'Connor Robert18,Garcia John19ORCID,Wand Hannah20ORCID,Tichy Lukáš21,Sijbrands Eric J.22ORCID,Hegele Robert A.1ORCID,Bourbon Mafalda23ORCID,Knowles Joshua W.1620ORCID,

Affiliation:

1. Robarts Research InstituteWestern University London Ontario Canada

2. Instituto Nacional de Saúde Doutor Ricardo Jorge Lisbon Portugal

3. BioISIUniversity of Lisbon Lisbon Portugal

4. Hôpitaux Universitaires Pitié‐Salpêtrière/Charles‐Foix, Molecular and Chromosomal Genetics Center, Obesity and Dyslipidemia Genetics UnitAssistance Publique‐Hôpitaux de Paris Paris France

5. Inserm, Institute of Cardiometabolism and NutritionHôpital de la PitiéSorbonne Université Paris France

6. Centre for Cardiovascular Surgery and Transplantation Brno Czech Republic

7. Ceitec and Medical FacultyMasaryk University Brno London

8. Genomics England London United Kingdom

9. Academic Medical CenterUniversity of Amsterdam Amsterdam Netherlands

10. Department of GeneticsUniversity of North Carolina Chapel Hill North Carolina

11. Harvard Medical SchoolHarvard University Boston Massachusetts

12. Instituto do Coração São Paulo Brazil

13. Centre for Cardiovascular GeneticsUniversity College of London London United Kingdom

14. Fundacion Hipercolesterolemia Familiar Madrid Spain

15. PathWest Laboratory MedicineUniversity of Western Australia Perth Australia

16. FH Foundation Pasadena California

17. CNRS, CHU Lille, UMR 8199 – Integrative Genomics and Metabolic Diseases ModelingUniversity of Lille Lille France

18. Color Genomics Burlingame California

19. Invitae Corporation San Francisco California

20. Center for Inherited Cardiovascular DiseaseStanford University Palo Alto California

21. Center of Molecular Biology and Gene TherapyUniversity Hospital Brno Brno Czech Republic

22. University Medical CenterErasmus University Rotterdam Netherlands

Funder

National Human Genome Research Institute

Fundação para a Ciência e a Tecnologia

Ministerstvo Zdravotnictví Ceské Republiky

British Heart Foundation

National Institute for Health Research

University College London Hospitals NHS Foundation Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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