Concepedia

Joana Rita Chora

JR

Statistics

Publications

9

Citations

580

H-Index

9

Active since

2010

Affiliations

University of Lisbon(Current)

National Institute of Health Dr. Ricardo Jorge

University College London

University of North Carolina at Chapel Hill

Erasmus MC

Joana Rita Chora is an author at University of Lisbon specializing in molecular diagnostics, biostatistics, and epidemiology.

ORCID

Top concepts

Publications per year

2010–2023

9

Publications

9

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 et al. · Genetics in Medicine · 2021 · 143 citations · Full text

, , +12

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 et al. · Genetics in Medicine · 2017 · 138 citations · Full text

ClinVar database of global familial hypercholesterolemia‐associated DNA variants

Michael A. Iacocca, Joana Rita Chora, Alain Carrié et al. · Human Mutation · 2018 · 112 citations · Full text

, , +21

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

Joana Rita Chora, Ana Catarina Alves, Ana Margarida Medeiros et al. · Journal of clinical lipidology · 2016 · 53 citations · Full text

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

Marina Cuchel, Paul C. Lee, Lisa C. Hudgins et al. · Journal of the American Heart Association · 2023 · 43 citations · Full text

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