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Работы, на которые ссылается эта работа

Работ: 48

Работа: Global survey of genetic testing methods for familial hypercholesterolaemia: a study and recommendations from the European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration registry

  1. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: <i>lipid modification to reduce cardiovascular risk</i>

    François Mach, Colin Baigent, Alberico L. Catapano +87

    Статья2019Цитирований: 7
    ABI

  2. 2021 ESC Guidelines on cardiovascular disease prevention in clinical practice

    Frank L.J. Visseren, François Mach, Yvo M. Smulders +97

    Статья2021Цитирований: 7
    ABI

  3. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

    Børge G. Nordestgaard, M. John Chapman, Steve E. Humphries +26

    Статья2013Цитирований: 6
    ABI

  4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

    Sue Richards, Nazneen Aziz, Sherri J. Bale +9

    Статья2015Цитирований: 6
    ABI

  5. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

    Albert Wiegman, Samuel S. Gidding, Gerald F. Watts +29

    Обзорная статья2015Цитирований: 4
    ABI

  6. Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

    Antonio J. Vallejo‐Vaz, Asif Akram, Sreenivasa Rao Kondapally Seshasai +69

    Статья2016Цитирований: 3
    ABI

  7. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

    Antonio J. Vallejo‐Vaz, Christophe Stevens, Alexander R.M. Lyons +97

    Статья2021Цитирований: 3
    ABI

  8. Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

    Joana Rita Chora, Ana Margarida Medeiros, Ana Catarina Alves +1

    Статья2017Цитирований: 2
    ABI

  9. Clinical Genetic Testing for Familial Hypercholesterolemia

    Amy C. Sturm, Joshua W. Knowles, Samuel S. Gidding +29

    Обзорная статья2018Цитирований: 2
    ABI

  10. Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease

    Mark Trinder, Gordon A. Francis, Liam R. Brunham

    Статья2020Цитирований: 2
    ABI

  11. Familial Hypercholesterolemia

    Julia Brandts, Kausik K. Ray

    Обзорная статья2021Цитирований: 2
    ABI

  12. International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia

    Gerald F. Watts, Samuel S. Gidding, Robert A. Hegele +19

    Обзорная статья2023Цитирований: 2
    ABI

  13. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

    Kanika Dharmayat, Antonio J. Vallejo‐Vaz, Christophe Stevens +97

    Статья2023Цитирований: 2
    ABI

  14. LOVD v.2.0: the next generation in gene variant databases

    Ivo F.A.C. Fokkema, Peter E.M. Taschner, Gerard C. P. Schaafsma +3

    Статья2011Цитирований: 2
    ABI

  15. High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study

    Anne Langsted, Pia R. Kamstrup, Marianne Benn +2

    Статья2016Цитирований: 2
    ABI

  16. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

    Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý +25

    Статья2021Цитирований: 2
    ABI

  17. Recommendations for reporting results of diagnostic genomic testing

    Zandra C. Deans, Joo Wook Ahn, Isabel M. Carreira +7

    Статья2022Цитирований: 2
    ABI

  18. Equivalent Impact of Elevated Lipoprotein(a) and Familial Hypercholesterolemia in Patients With Atherosclerotic Cardiovascular Disease

    Berit Storgaard Hedegaard, Christian Sørensen Bork, Morten Kaltoft +5

    Статья2022Цитирований: 2
    ABI

  19. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance

    Marina Cuchel, Frederick J. Raal, Robert A. Hegele +20

    Статья2023Цитирований: 2
    ABI

  20. High Lipoprotein(a) May Explain One-Quarter of Clinical Familial Hypercholesterolemia Diagnoses in Danish Lipid Clinics

    Berit Storgaard Hedegaard, Børge G. Nordestgaard, Helle Kanstrup +15

    Статья2023Цитирований: 2
    ABI

  21. Proposal of a familial hypercholesterolemia paediatric diagnostic score (FH-PeDS)

    Jan Kafol, Beatriz Miranda, Rok Sikonja +11

    Статья2025Цитирований: 2
    ABI

  22. Без названия

    ДругоеЦитирований: 1
    ABI

  23. Без названия

    ДругоеЦитирований: 1
    ABI

  24. Без названия

    ДругоеЦитирований: 1
    ABI

  25. Без названия

    ДругоеЦитирований: 1
    ABI