Combination of heterozygous APOB gene mutation with PNPLA3 and TM6SF2 variants promotes steatotic liver disease, cirrhosis and HCC development von Chouik, Yasmina, Di Filippo, Mathilde, Radenne, Sylvie, Dumortier, Jérôme, Moulin, Philippe, Levrero, Massimo

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Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis von Bonnet, Jean‐Baptiste, Couvert, Philippe, Di‐filippo, Mathilde, Boissiere, Florian, Cristol, Jean‐Paul, Sutra, Thibault, Cheillan, David, Moulin, Philippe, Sultan, Ariane

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Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease von Cuerq, Charlotte, Henin, Emilie, Restier, Lioara, Blond, Emilie, Drai, Jocelyne, Marçais, Christophe, Di Filippo, Mathilde, Laveille, Christian, Michalski, Marie-Caroline, Poinsot, Pierre, Caussy, Cyrielle, Sassolas, Agnès, Moulin, Philippe, Reboul, Emmanuelle, Charriere, Sybil, Levy, Emile, Lachaux, Alain, Peretti, Noël

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Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations von Bonnot Ruget, Mathilde, Moulin, Philippe, Pagan, Cécile, Cheillan, David, Marmontel, Oriane, Raverot, Gerald, Benlian, Pascale, Di Filippo, Mathilde

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Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T von Henry, Zoé, Janin, Alexandre, Nony, Séverine, Marmontel, Oriane, Cariou, Bertrand, Marrec, Marie, Caussy, Cyrielle, Charrière, Sybil, Moulin, Philippe, Rieusset, Jennifer, Perros, Frédéric, Di Filippo, Mathilde

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Assessment of three equations to calculate plasma LDL cholesterol concentration in fasting and non-fasting hypertriglyceridemic patients von Vasse, Joséphine, Lassartesse, Audrey, Marmontel, Oriane, Charrière, Sybil, Bouveyron, Caroline, Marrié, Nathanaël, Moulin, Philippe, Di Filippo, Mathilde

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New Classification and Management of Abetalipoproteinemia and Related Disorders von Bredefeld, Cindy, Peretti, Noel, Hussain, M. Mahmood, Di Filippo, Mathilde, Granot, Ettie, Cuerq, Charlotte, Poinsot, Pierre, Moulin, Philippe, Charrière, Sybil, Brin, Mitchell, Deckelbaum, Richard J., Black, Dennis D.

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Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia von Rimbert, Antoine, Vanhoye, Xavier, Coulibaly, Dramane, Marrec, Marie, Pichelin, Matthieu, Charrière, Sybil, Peretti, Noël, Valéro, René, Wargny, Matthieu, Carrié, Alain, Lindenbaum, Pierre, Deleuze, Jean-François, Genin, Emmanuelle, Redon, Richard, Rollat-Farnier, Pierre Antoine, Goxe, Didier, Degraef, Gilles, Marmontel, Oriane, Divry, Eléonore, Bigot-Corbel, Edith, Moulin, Philippe, Cariou, Bertrand, Di Filippo, Mathilde

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An APOA5 3′ UTR Variant Associated with Plasma Triglycerides Triggers APOA5 Downregulation by Creating a Functional miR-485-5p Binding Site von Caussy, Cyrielle, Charrière, Sybil, Marçais, Christophe, Di Filippo, Mathilde, Sassolas, Agnès, Delay, Mireille, Euthine, Vanessa, Jalabert, Audrey, Lefai, Etienne, Rome, Sophie, Moulin, Philippe

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APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia von Abou Khalil, Yara, Marmontel, Oriane, Ferrières, Jean, Paillard, François, Yelnik, Cécile, Carreau, Valérie, Charrière, Sybil, Bruckert, Eric, Gallo, Antonio, Giral, Philippe, Philippi, Anne, Bluteau, Olivier, Boileau, Catherine, Abifadel, Marianne, Di-Filippo, Mathilde, Carrié, Alain, Rabès, Jean-Pierre, Varret, Mathilde

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Pseudohyponatremia: interference of hyperglycemia on indirect potentiometry von Lefèvre, Charles R., Gibert, Charles, Maucorps, Laure, Vasse, Joséphine, Michel, Marie, Chupin, Marine, Zhao, Fanny, Desmurs, Laurent, Collet, Nicolas, Di Filippo, Mathilde, Cartier, Régine, Monneret, Denis, Marmontel, Oriane

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Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia von Marmontel, Oriane, Rollat‐Farnier, Pierre Antoine, Wozny, Anne‐Sophie, Charrière, Sybil, Vanhoye, Xavier, Simonet, Thomas, Chatron, Nicolas, Collin‐Chavagnac, Delphine, Nony, Séverine, Dumont, Sabrina, Mahl, Muriel, Jacobs, Chantal, Janin, Alexandre, Caussy, Cyrielle, Poinsot, Pierre, Tauveron, Igor, Bardel, Claire, Millat, Gilles, Peretti, Noël, Moulin, Philippe, Marçais, Christophe, Di Filippo, Mathilde

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APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants von Vanhoye, Xavier, Janin, Alexandre, Caillaud, Amandine, Rimbert, Antoine, Venet, Fabienne, Gossez, Morgane, Dijk, Wieneke, Marmontel, Oriane, Nony, Séverine, Chatelain, Charlotte, Durand, Christine, Lindenbaum, Pierre, Rieusset, Jennifer, Cariou, Bertrand, Moulin, Philippe, Di Filippo, Mathilde

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Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France von Marduel, Marie, Carrié, Alain, Sassolas, Agnes, Devillers, Martine, Carreau, Valérie, Di Filippo, Mathilde, Erlich, Danièle, Abifadel, Marianne, Marques‐Pinheiro, Alice, Munnich, Arnold, Junien, Claudine, Boileau, Catherine, Varret, Mathilde, Rabès, Jean‐Pierre

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Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia von Di Filippo, Mathilde, Collardeau Frachon, Sophie, Janin, Alexandre, Rajan, Sujith, Marmontel, Oriane, Decourt, Charlotte, Rubio, Amandine, Nony, Séverine, Dumont, Sabrina, Cuerq, Charlotte, Charrière, Sybil, Moulin, Philippe, Lachaux, Alain, Hussain, M. Mahmood, Bozon, Dominique, Peretti, Noël

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Postprandial Triglyceride‐Rich Lipoproteins from Type 2 Diabetic Women Stimulate Platelet Activation Regardless of the Fat Source in the Meal von Boulet, Marie Michèle, Cheillan, David, Di Filippo, Mathilde, Lelekov‐Boissard, Taïssia, Buisson, Charline, Lambert‐Porcheron, Stéphanie, Nazare, Julie‐Anne, Tressou, Jessica, Michalski, Marie‐Caroline, Calzada, Catherine, Moulin, Philippe

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Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia von Dijk, Wieneke, Di Filippo, Mathilde, Kooijman, Sander, van Eenige, Robin, Rimbert, Antoine, Caillaud, Amandine, Thedrez, Aurélie, Arnaud, Lucie, Pronk, Amanda, Garçon, Damien, Sotin, Thibaud, Lindenbaum, Pierre, Ozcariz Garcia, Enrique, Pais de Barros, Jean-Paul, Duvillard, Laurence, Si-Tayeb, Karim, Amigo, Nuria, Le Questel, Jean-Yves, Rensen, Patrick C.N., Le May, Cédric, Moulin, Philippe, Cariou, Bertrand

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Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S] von Wintjens, René, Bozon, Dominique, Belabbas, Khaldia, MBou, Félicien, Girardet, Jean-Philippe, Tounian, Patrick, Jolly, Mathilde, Boccara, Franck, Cohen, Ariel, Karsenty, Alexandra, Dubern, Béatrice, Carel, Jean-Claude, Azar-Kolakez, Ahlam, Feillet, François, Labarthe, François, Gorsky, Anne-Marie Colin, Horovitz, Alice, Tamarindi, Catherine, Kieffer, Pierre, Lienhardt, Anne, Lascols, Olivier, Di Filippo, Mathilde, Dufernez, Fabienne

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Efficacy of daratumumab in refractory primary Sjögren disease von Nocturne, Gaetane, Marmontel, Oriane, di Filippo, Mathilde, Chretien, Pascale, Krzysiek, Roman, Lifermann, Francois, Rahal, Nawal, Belkhir, Rakiba, Moulin, Philippe, Mariette, Xavier

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New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia von Serveaux Dancer, Marine, Di Filippo, Mathilde, Marmontel, Oriane, Valéro, René, Piombo Rivarola, Maria Del Carmen, Peretti, Noël, Caussy, Cyrielle, Krempf, Michel, Vergès, Bruno, Mahl, Murielle, Marçais, Christophe, Moulin, Philippe, Charrière, Sybil

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