ArticleMetabolites2022
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
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In one paragraph
Article in Metabolites, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 28% of its field
What it found
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Long noncoding RNAs in familial hypercholesterolemia: biomarkers, therapeutics, and AI in precision medicine.Lipids in health and disease · 2025Review
- Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.International journal of molecular sciences · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 11 institutions in 4 countries.
Youmna GhalebINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.ORCID 0000-0003-1137-0210
Sandy ElbitarINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.
Anne PhilippiInstitut Cochin, Bâtiment Faculté Inserm U1016, Cnrs UMR8104, Université de Paris Faculté de Médecine, F-75014 Paris, France.
Petra El KhouryINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.
Yara AzarINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.ORCID 0000-0002-9359-2038
Miangaly AndrianirinaINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.
Alexia LosteINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.
Yara Abou-KhalilINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.
Gaël NicolasLaboratory for Vascular Translational Science, Paris Cité University, Sorbonne Paris Nord University, F-75013 Paris, France.ORCID 0000-0002-1671-8274
Marie Le BorgneINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.
Philippe MoulinDepartment of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, F-69500 Bron, France.
Mathilde Di-FilippoCarMen Laboratory, INSERM U1060, INRAE U1397, Université Lyon 1, F-69921 Oullins, France.ORCID 0000-0001-6206-5908
Sybil CharrièreDepartment of Endocrinology, Nutrition and Metabolic Diseases, Hospices Civils de Lyon, Louis Pradel Cardiovascular Hospital, F-69500 Bron, France.
Michel FarnierEA 7460 Physiopathologie et Epidémiologie Cérébro-Cardiovasculaires (PEC2), Université de Bourgogne-Franche Comté, F-21078 Dijon, France.
Cécile YelnickDépartement 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.
Valérie CarreauDepartment of Endocrinology and Prevention of Cardiovascular Disease, Institute of Cardio Metabolism and Nutrition (ICAN), La Pitié-Salpêtrière Hospital, AP-HP, F-75005 Paris, France.
Jean FerrièresDepartment of Cardiology, Toulouse Rangueil University Hospital, UMR 1295 INSERM, F-31400 Toulouse, France.ORCID 0000-0001-6144-1297
Jean-Michel LecerfNutrition Department, Institut Pasteur de Lille, CEDEX, F-59019 Lille, France.ORCID 0000-0002-9127-0158
Alexa DerksenChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H3A 0G4, Canada.
Geneviève BernardChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC H3A 0G4, Canada.
Marie-Soleil GauthierTranslational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
Benoit CoulombeTranslational Proteomics Laboratory, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.ORCID 0000-0003-1702-0692
Dieter LütjohannInstitute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, F-53127 Bonn, Germany.ORCID 0000-0002-7941-8308
Bertrand FinCEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.
Anne BolandCEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.ORCID 0000-0001-8789-5676
Robert OlasoCEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.
Jean-François DeleuzeCEA, Centre National de Recherche en Génomique Humaine, Laboratory of Excellence GENMED (Medical Genomics), Paris-Saclay University, F-91057 Evry, France.
Jean-Pierre RabèsINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.ORCID 0000-0002-1215-1493
Catherine BoileauINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.ORCID 0000-0002-0371-7539
Marianne AbifadelINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.
Mathilde VarretINSERM, Laboratory for Vascular Translational Science (LVTS), F-75018 Paris, France.
Inserm · FRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRUniversité Claude Bernard Lyon 1 · FRMcGill University Health Centre · CAMontreal Clinical Research Institute · CACentre National de la Recherche Scientifique · FRInstitut Pasteur de Lille · FRSorbonne Université · FRUniversité de Bourgogne · FRUniversité Toulouse III - Paul Sabatier · FRUniversity Hospital Bonn · DE
Funding
Discovery of Mendelian Dyslipidemia and Heart Attack Genes Using Exome SequencingR01HL107816 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI KATHIRESAN, SEKAR · 2011 to 2015
$2.7MNHLBI NIH HHS R01 HL107816
Abstract
Autosomal Dominant Hypercholesterolemia (ADH) is a genetic disorder caused by pathogenic variants in
Indexed as
autosomal dominant hypercholesterolemiaCYP7A1LDLRAP1LDL uptakelinkage analysisLRP6next-generation sequencingoligogenic hypercholesterolemiapolygenic risk scoreprotein structural models
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Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.