Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

• Aenne S. Thormaehlen ,

  Contributed equally to this work with: Aenne S. Thormaehlen, Rainer Pepperkok

  Affiliations Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany

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• Christian Schuberth,

  Affiliations Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany

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• Hong-Hee Won,

  Affiliations Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America, Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America

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• Peter Blattmann,

  Affiliations Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany, Cell Biology/Biophysics Unit, European Molecular Biological Laboratory, Heidelberg, Germany

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• Brigitte Joggerst-Thomalla,

  Affiliations Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany

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• Susanne Theiss,

  Affiliation Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

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• Rosanna Asselta,

  Affiliation Humanitas University, Milan, Italy

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• Stefano Duga,

  Affiliation Humanitas University, Milan, Italy

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• Pier Angelica Merlini,

  Affiliation Division of Cardiology, Ospedale Niguarda, Milan, Italy

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• Diego Ardissino,

  Affiliation Department of Cardiology, Parma Hospital, Parma, Italy

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• Eric S. Lander,

  Affiliation Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America

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• Stacey Gabriel,

  Affiliation Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America

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• Daniel J. Rader,

  Affiliation Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America

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• Gina M. Peloso,

  Affiliations Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America

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• Rainer Pepperkok ,

  Contributed equally to this work with: Aenne S. Thormaehlen, Rainer Pepperkok

  Affiliations Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany, Cell Biology/Biophysics Unit, European Molecular Biological Laboratory, Heidelberg, Germany

  ⨯
• Sekar Kathiresan ,

  ¶‡ These author’s contributed equally to this work

  Affiliations Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America, Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, United States of America, Division of Cardiology, Ospedale Niguarda, Milan, Italy

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•  [ ... ],
• Heiko Runz

  * E-mail: heiko.runz@merck.com

  Current address: Department of Genetics and Pharmacogenomics, Merck Research Laboratories, Boston, Massachusetts, United States of America

  ¶‡ These author’s contributed equally to this work

  Affiliations Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany, Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America

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