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The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

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Title: The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.
Authors: Tabet DR; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Coté AG; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Lancaster MC; Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Division of Cardiovascular Medicine, Department of Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Weile J; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Rayhan A; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Fotiadou I; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Kishore N; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Li R; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Kuang D; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Knapp JJ; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Carrero CS; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Taverniti O; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Axakova A; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Castelli JMP; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada., Islam MM; Department of Anatomy, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Sowlati-Hashjin S; Institute of Biomedical Engineering, University of Toronto, Toronto, ON, Canada., Gandhi A; Institute of Biomedical Engineering, University of Toronto, Toronto, ON, Canada., Maaieh R; Institute of Biomedical Engineering, University of Toronto, Toronto, ON, Canada., Garton M; Institute of Biomedical Engineering, University of Toronto, Toronto, ON, Canada., Matreyek K; Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH, USA., Fowler DM; Departments of Genome Sciences and Bioengineering, University of Washington, Seattle, WA, USA., Bourbon M; BioISI, Biosystems & Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal.; Grupo De Investigação Cardiovascular, Unidade I&d, Departamento De Promoção Da Saúde E Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal.; Centro Cardiovascular da Universidade de Lisboa, CCUL (CCUL@RISE), C.A.M.L, Faculdade de Medicina, Universidade de Lisboa, Portugal., Pfisterer SG; Department of Anatomy, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Glazer AM; Department of Medicine (Genomic Medicine and Clinical Pharmacology), Vanderbilt University Medical Center, Nashville, TN, USA., Kroncke BM; Department of Medicine (Genomic Medicine and Clinical Pharmacology), Vanderbilt University Medical Center, Nashville, TN, USA., Parikh VN; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Ashley EA; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Knowles JW; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Division of Cardiovascular Medicine and Cardiovascular Institute, Department of Medicine, Stanford University, Stanford, CA, USA., Claussnitzer M; The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine and Endocrine Division, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA., Cirulli ET; Helix, San Mateo, CA, USA., Hegele RA; Department of Medicine and Robarts Research Institute, Western University, London, ON, Canada., Roden DM; Department of Medicine (Genomic Medicine and Clinical Pharmacology), Vanderbilt University Medical Center, Nashville, TN, USA.; Departments of Pharmacology and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA., MacRae CA; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Divisions of Cardiovascular Medicine and Genetics, Department of Medicine, MassGeneral Brigham, Boston, MA, USA., Roth FP; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada.; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Source: Science (New York, N.Y.) [Science] 2026 Feb 19; Vol. 391 (6787), pp. eady7186. Date of Electronic Publication: 2026 Feb 19.
Publication Type: Journal Article
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
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BioISI, Biosystems & Integrative Sciences Institute, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal.; Grupo De Investigação Cardiovascular, Unidade I&d, Departamento De Promoção Da Saúde E Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, Portugal.; Centro Cardiovascular da Universidade de Lisboa, CCUL (CCUL@RISE), C.A.M.L, Faculdade de Medicina, Universidade de Lisboa, Portugal.<br /><searchLink fieldCode="AU" term="%22Pfisterer+SG%22">Pfisterer SG</searchLink>; Department of Anatomy, Faculty of Medicine, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Glazer+AM%22">Glazer AM</searchLink>; Department of Medicine (Genomic Medicine and Clinical Pharmacology), Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Kroncke+BM%22">Kroncke BM</searchLink>; Department of Medicine (Genomic Medicine and Clinical Pharmacology), Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Parikh+VN%22">Parikh VN</searchLink>; 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Donnelly Centre, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada.; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
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