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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

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Title: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
Authors: Ghaleb Y; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon., Elbitar S; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon., Philippi A; Institut Cochin, Bâtiment Faculté Inserm U1016, Cnrs UMR8104, Université de Paris Faculté de Médecine, F-75014 Paris, France., El Khoury P; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon., Azar Y; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France., Andrianirina M; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France., Loste A; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France., Abou-Khalil Y; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France., Nicolas G; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.; INSERM U1149, CNRS ERL 8252, Centre de Recherche sur l'Inflammation, F-75018 Paris, France., Le Borgne M; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France., Moulin P; Department of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, F-69500 Bron, France.; CarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France., Di-Filippo M; CarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France.; Hospices Civils de Lyon, Department of Biochemistry and Molecular Biology, F-69500 Bron, France., Charrière S; Department of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, F-69500 Bron, France.; CarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France., Farnier M; EA 7460 Physiopathologie et Epidémiologie Cérébro-Cardiovasculaires (PEC2), Université de Bourgogne-Franche Comté, F-21078 Dijon, France., Yelnick C; Département de Médecine Interne et Immunologie Clinique Centre de Référence des Maladies Auto-Immunes Systémiques Rares du Nord et Nord-Ouest de France (CeRAINO) CHU de Lille, F-59037 Lille, France.; U1167 Risk Factors and Molecular Determinants of Aging-Related Diseases, Inserm CHU de Lille, Lille University, F-59000 Lille, France., Carreau V; Department of Endocrinology and Prevention of Cardiovascular Disease, Institute of Cardio Metabolism and Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, F-75005 Paris, France., Ferrières J; Department of Cardiology, Toulouse Rangueil University Hospital, UMR 1295 INSERM, F-31400 Toulouse, France., Lecerf JM; Nutrition Department, Institut Pasteur de Lille, CEDEX, F-59019 Lille, France., Derksen A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H3A 0G4, Canada.; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada., Bernard G; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H3A 0G4, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada.; Department of Pediatrics, McGill University, Montréal, QC H3A 0G4, Canada.; Department of Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, QC H4A 3J1, Canada., Gauthier MS; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada., Coulombe B; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montréal, QC H3T 1J4, Canada., Lütjohann D; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, F-53127 Bonn, Germany., Fin B; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France., Boland A; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France., Olaso R; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France., Deleuze JF; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.; Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, F-75019 Paris, France., Rabès JP; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Department of Biochemistry and Molecular Genetics, Ambroise Paré University Hospital (APHP), Université Paris-Saclay, F-92104 Boulogne-Billancourt, France.; UFR (Unite de Formation et de Recherche) Simone Veil-Santé, Versailles-Saint-Quentin-en-Yvelines University, F-78180 Montigny-le-Bretonneux, France., Boileau C; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.; Genetic Department, AP-HP, Hôpital Bichat, F-75018 Paris, France., Abifadel M; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon., Varret M; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.
Source: Metabolites [Metabolites] 2022 Mar 18; Vol. 12 (3). Date of Electronic Publication: 2022 Mar 18.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Label: Title
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  Data: Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
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  Data: <searchLink fieldCode="AU" term="%22Ghaleb+Y%22">Ghaleb Y</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.<br /><searchLink fieldCode="AU" term="%22Elbitar+S%22">Elbitar S</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.<br /><searchLink fieldCode="AU" term="%22Philippi+A%22">Philippi A</searchLink>; Institut Cochin, Bâtiment Faculté Inserm U1016, Cnrs UMR8104, Université de Paris Faculté de Médecine, F-75014 Paris, France.<br /><searchLink fieldCode="AU" term="%22El+Khoury+P%22">El Khoury P</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.<br /><searchLink fieldCode="AU" term="%22Azar+Y%22">Azar Y</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Andrianirina+M%22">Andrianirina M</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.<br /><searchLink fieldCode="AU" term="%22Loste+A%22">Loste A</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Abou-Khalil+Y%22">Abou-Khalil Y</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.; INSERM U1149, CNRS ERL 8252, Centre de Recherche sur l'Inflammation, F-75018 Paris, France.<br /><searchLink fieldCode="AU" term="%22Le+Borgne+M%22">Le Borgne M</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Moulin+P%22">Moulin P</searchLink>; Department of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, F-69500 Bron, France.; CarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France.<br /><searchLink fieldCode="AU" term="%22Di-Filippo+M%22">Di-Filippo M</searchLink>; CarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France.; Hospices Civils de Lyon, Department of Biochemistry and Molecular Biology, F-69500 Bron, France.<br /><searchLink fieldCode="AU" term="%22Charrière+S%22">Charrière S</searchLink>; Department of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, F-69500 Bron, France.; CarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France.<br /><searchLink fieldCode="AU" term="%22Farnier+M%22">Farnier M</searchLink>; EA 7460 Physiopathologie et Epidémiologie Cérébro-Cardiovasculaires (PEC2), Université de Bourgogne-Franche Comté, F-21078 Dijon, France.<br /><searchLink fieldCode="AU" term="%22Yelnick+C%22">Yelnick C</searchLink>; Département de Médecine Interne et Immunologie Clinique Centre de Référence des Maladies Auto-Immunes Systémiques Rares du Nord et Nord-Ouest de France (CeRAINO) CHU de Lille, F-59037 Lille, France.; U1167 Risk Factors and Molecular Determinants of Aging-Related Diseases, Inserm CHU de Lille, Lille University, F-59000 Lille, France.<br /><searchLink fieldCode="AU" term="%22Carreau+V%22">Carreau V</searchLink>; Department of Endocrinology and Prevention of Cardiovascular Disease, Institute of Cardio Metabolism and Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, F-75005 Paris, France.<br /><searchLink fieldCode="AU" term="%22Ferrières+J%22">Ferrières J</searchLink>; Department of Cardiology, Toulouse Rangueil University Hospital, UMR 1295 INSERM, F-31400 Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Lecerf+JM%22">Lecerf JM</searchLink>; Nutrition Department, Institut Pasteur de Lille, CEDEX, F-59019 Lille, France.<br /><searchLink fieldCode="AU" term="%22Derksen+A%22">Derksen A</searchLink>; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H3A 0G4, Canada.; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada.<br /><searchLink fieldCode="AU" term="%22Bernard+G%22">Bernard G</searchLink>; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H3A 0G4, Canada.; Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 0G4, Canada.; Department of Pediatrics, McGill University, Montréal, QC H3A 0G4, Canada.; Department of Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, QC H4A 3J1, Canada.<br /><searchLink fieldCode="AU" term="%22Gauthier+MS%22">Gauthier MS</searchLink>; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.<br /><searchLink fieldCode="AU" term="%22Coulombe+B%22">Coulombe B</searchLink>; Translational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montréal, QC H3T 1J4, Canada.<br /><searchLink fieldCode="AU" term="%22Lütjohann+D%22">Lütjohann D</searchLink>; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, F-53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Fin+B%22">Fin B</searchLink>; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.<br /><searchLink fieldCode="AU" term="%22Boland+A%22">Boland A</searchLink>; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.<br /><searchLink fieldCode="AU" term="%22Olaso+R%22">Olaso R</searchLink>; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.<br /><searchLink fieldCode="AU" term="%22Deleuze+JF%22">Deleuze JF</searchLink>; CEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.; Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, F-75019 Paris, France.<br /><searchLink fieldCode="AU" term="%22Rabès+JP%22">Rabès JP</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Department of Biochemistry and Molecular Genetics, Ambroise Paré University Hospital (APHP), Université Paris-Saclay, F-92104 Boulogne-Billancourt, France.; UFR (Unite de Formation et de Recherche) Simone Veil-Santé, Versailles-Saint-Quentin-en-Yvelines University, F-78180 Montigny-le-Bretonneux, France.<br /><searchLink fieldCode="AU" term="%22Boileau+C%22">Boileau C</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.; Genetic Department, AP-HP, Hôpital Bichat, F-75018 Paris, France.<br /><searchLink fieldCode="AU" term="%22Abifadel+M%22">Abifadel M</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Faculty of Pharmacy, Pôle Technologie-Santé (PTS), Saint-Joseph University, Beirut 1004 2020, Lebanon.<br /><searchLink fieldCode="AU" term="%22Varret+M%22">Varret M</searchLink>; INSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.; Laboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.
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