Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Deleuze JF"'
Autor:
de Feraudy Y; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France.; Department of Pediatric Neurology, CHU Strasbourg, Strasbourg, France.; Centre de Référence Neuromusculaire Nord-Est-Île de France, Strasbourg, France., Vandroux M; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France., Romero NB; Myology Institute, Neuromuscular Morphology Unit, Sorbonne Université, INSERM, GHU Pitié-Salpêtrière, Paris, France., Schneider R; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France., Saker S; Genethon, DNA and Cell Bank, Evry, 91000, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, 91057, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, 91057, France., Biancalana V; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France.; Laboratoire de Diagnostic Génétique CHRU de Strasbourg, Strasbourg, 67091, France., Böhm J; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France., Laporte J; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France. jocelyn@igbmc.fr.
Publikováno v:
Genome medicine [Genome Med] 2024 Jul 09; Vol. 16 (1), pp. 87. Date of Electronic Publication: 2024 Jul 09.
Autor:
Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France. Electronic address: gaelnicolas@hotmail.com., Zaréa A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Lacour M; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Quenez O; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Rousseau S; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Richard AC; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Bonnevalle A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Schramm C; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNRMAJ, F-76000 Rouen, France., Olaso R; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Sandron F; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Andriuta D; Service de Neurologie CHU Amiens et Laboratoire de Neurosciences Fonctionnelles et Pathologies, Université de Picardie Jules Verne, Amiens, France., Anthony P; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France., Auriacombe S; Univ. Bordeaux, CNRS UMR 5293, Institut des Maladies Neurodégénératives, Bordeaux, France., Balageas AC; Centre Mémoire Ressources et Recherche, CHRU de Tours, Tours, France., Ballan G; Centre Hospitalier de la Côte Basque, Bayonne, France., Barbay M; Service de Neurologie CHU Amiens et Laboratoire de Neurosciences Fonctionnelles et Pathologies, Université de Picardie Jules Verne, Amiens, France., Béjot Y; Department of Neurology, University Hospital of Dijon, University of Burgundy, Dijon, France., Belliard S; Unité de recherche 1077 INSERM-EPHE-UNICAEN Neuropsychologie & Imagerie de la Mémoire Humaine (NIMH), Caen, France; Centre Mémoire Ressources et Recherche Haute Bretagne, CHU Rennes, Rennes, France., Benaiteau M; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Bennys K; Memory Ressources Research Center, Department of Neurology, University Hospital of Montpellier, Montpellier, France., Bombois S; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Boutoleau-Bretonnière C; CHU Nantes, Memory Center, Inserm CIC4, 44093 Nantes, France., Branger P; Department of Neurology, Caen University Hospital, Caen, France., Carlier J; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Cartz-Piver L; Memory Ressources Research Center, Department of Neurology, University Hospital of Limoges, France Inserm U1094, IRD U270, EPIMACT, Université of Limoges, Limoges, France., Cassagnaud P; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Ceccaldi MP; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Chauviré V; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Chen Y; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Cogez J; Department of Neurology, Caen University Hospital, Caen, France., Cognat E; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France; Université Paris Cité, UMR-S 1144, INSERM, Paris, France., Contegal-Callier F; Hospices Civils de Beaune, Consultation mémoire, Beaune, France., Corneille L; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Couratier P; CMRR Limoges, Service de Neurologie CHU Limoges, Limoges, France., Cretin B; CMRR d'Alsace, Service de Neurologie, CHU Strasbourg, Strasbourg, France., Crinquette C; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Dauriat B; Service de Génétique Médicale, Hopital Mère-Enfant, CHU Limoges, Limoges, France., Dautricourt S; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., de la Sayette V; Department of Neurology, Caen University Hospital, Caen, France; Normandie UNIV, UNICAEN, PSL Research University, EPHE, INSERM, CHU de Caen, Neuropsychologie et Imagerie de la Mémoire Humaine, Caen, France., de Liège A; Service de Neurologie, APHP, Hôpital Avicenne, Université Sorbonne Paris Nord, Bobigny, France., Deffond D; CMRR Clermont-Ferrand, Service de Neurologie, CHU Clermont-Ferrand, Clermont-Ferrand, France., Demurger F; Service de génétique, CHBA, Vannes, France., Deramecourt V; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Derollez C; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Dionet E; CMRR Clermont-Ferrand, Service de Neurologie, CHU Clermont-Ferrand, Clermont-Ferrand, France., Doco Fenzy M; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France; CHU Nantes, Service de Génétique, Nantes, France; CHU Reims, Service de Génétique, Reims, France., Dumurgier J; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France; Université Paris Cité, UMR-S 1144, INSERM, Paris, France., Dutray A; Service de Neurologie, Centre Hospitalier Perpignan, Perpignan, France., Etcharry-Bouyx F; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Formaglio M; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Gabelle A; Memory Ressources Research Center, Department of Neurology, University Hospital of Montpellier, Montpellier, France., Gainche-Salmon A; Centre Mémoire Ressources et Recherche Haute Bretagne, CHU Rennes, Rennes, France., Godefroy O; Service de Neurologie CHU Amiens et Laboratoire de Neurosciences Fonctionnelles et Pathologies, Université de Picardie Jules Verne, Amiens, France., Graber M; Centre mémoire ressources et recherche, CHU Dijon, Dijon, France., Gregoire C; CHU de Bordeaux, Pôle de Neurosciences Cliniques, Centre Mémoire de Ressources et de Recherche, Bordeaux, France., Grimaldi S; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Gueniat J; Centre mémoire ressources et recherche, CHU Dijon, Dijon, France., Gueriot C; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France., Guillet-Pichon V; CMRR, CRMR Neurogénétique, Service de Neurologie, CHU d'ANGERS, Angers, France., Haffen S; Centre mémoire Recherche Ressources, Service de Neurologie, CHU Besançon, Besançon, France., Hanta CR; Centre Mémoire Ressources et Recherche Haute Bretagne, CHU Rennes, Rennes, France., Hardy C; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France., Hautecloque G; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France., Heitz C; Institut du cerveau Trocadero, Paris, France; Neurology Department, Hôpital Universitaire de Nîmes, Nîmes, France., Hourregue C; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France., Jonveaux T; Centre Mémoire de Ressources et de Recherche de Lorraine Service de Neurologie CHRU Nancy, Nancy, France; Laboratoire 2LPN EA 7489 Université de Lorraine, Nancy, France., Jurici S; Consultation Mémoire, Service de Gériatrie, Centre Hospitalier Perpignan, Perpignan, France., Koric L; Institute of Neurophysiopathology UMR 7051 Aix Marseille Université & Assistance Publique de Marseille, Marseille, France; Aix-Marseille Univ, UMR 7249, CNRS, Centrale Marseille, Institut Fresnel, Marseille, France., Krolak-Salmon P; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Lagarde J; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Lanoiselée HM; Service de neurologie, Centre Hospitalier Régional d'Orléans, Orléans, France., Laurens B; CHU de Bordeaux, Pôle de Neurosciences Cliniques, Centre Mémoire de Ressources et de Recherche, Bordeaux, France., Le Ber I; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Le Guyader G; Service de Génétique, CHU Poitiers, 86022 Poitiers Cedex, France., Leblanc A; Consultations neurologiques, HIA Clermont-Tonnerre, Brest, France; Service de neurologie, CHU Cavale-Blanche, Brest, France., Lebouvier T; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Levy R; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Lippi A; Service de Neurologie, Hopital Gui de Chauliac, CHU de Montpellier, Montpellier, France., Mackowiak MA; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Magnin E; Laboratoire de neuroscience, Université de Franche-Comté UFC et Service de Neurologie, CMRR, CHU Besançon, Besançon, France., Marelli C; Service de Neurologie, Hopital Gui de Chauliac, CHU de Montpellier, Montpellier, France., Martinaud O; Department of Neurology, Caen University Hospital, Caen, France; Normandie UNIV, UNICAEN, PSL Research University, EPHE, INSERM, CHU de Caen, Neuropsychologie et Imagerie de la Mémoire Humaine, Caen, France., Maureille A; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Migliaccio R; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Milongo-Rigal E; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Mohr S; Centre mémoire ressources et recherche, CHU Dijon, Dijon, France., Mollion H; CMRR Lyon, Department of Neurology, University Hospital of Lyon, Hospices Civils de Lyon, Lyon, France., Morin A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France; Département de Psychiatrie, Centre Hospitalier du Rouvray, Université de Rouen, 76000, Sotteville-lès-Rouen, France., Nivelle J; CH Ales Cévennes, Alès, France., Noiray C; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Olivieri P; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Paquet C; Cognitive Neurology Center, AP-HP.Nord, Site Lariboisière Fernand-Widal, Paris, France; Université Paris Cité, UMR-S 1144, INSERM, Paris, France., Pariente J; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France; Toulouse NeuroImaging Center (ToNIC), INSERM-University of Toulouse Paul Sabatier, Toulouse, France., Pasquier F; Univ Lille, CHU Lille, Inserm 1172, Memory center, CNRMAJ, LiCEND, Labex DistAlz 59000 Lille, France., Perron A; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France., Philippi N; CMRR d'Alsace, Service de Neurologie, CHU Strasbourg, Strasbourg, France., Planche V; Univ. Bordeaux, CNRS UMR 5293, Institut des Maladies Neurodégénératives, Bordeaux, France; CHU de Bordeaux, Pôle de Neurosciences Cliniques, Centre Mémoire de Ressources et de Recherche, Bordeaux, France., Pouclet-Courtemanche H; Department of Neurology, CHU Nantes, Nantes, France., Rafiq M; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France; Toulouse NeuroImaging Center (ToNIC), INSERM-University of Toulouse Paul Sabatier, Toulouse, France., Rollin-Sillaire A; CHU Lille, Memory Center, CNRMAJ 59000 Lille, France., Roué-Jagot C; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Saracino D; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Sarazin M; Department of Neurology of Memory and Language, GHU Paris Psychiatrie & Neurosciences, Hôpital Sainte Anne, F-75014, Paris, France; Université Paris-Cité, F-75006 Paris, France; Université Paris-Saclay, BioMaps, Service Hospitalier Frédéric Joliot CEA, CNRS, Inserm, F-91401, Orsay, France., Sauvée M; Centre Mémoire de Ressources et de Recherche, Pôle PReNeLe, CHU Grenoble Alpes CS 10226, 38043 Grenoble Cedex 9, France; Unité de recherche mixte Université Grenoble Alpes/Université Savoie Montblanc, CNRS UMR 5115, Laboratoire de Psychologie et Neurocognition (LPNC), 38000 Grenoble, France., Sellal F; Department of Neurology, Hôpitaux Civils de Colmar, F-68000 Colmar, France; University of Strasbourg, Medicine Faculty, INSERM, U-1118, Strasbourg, France., Teichmann M; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Thauvin C; Genetics Center, University Hospital of Dijon, University of Burgundy, Dijon, France., Thomas Q; Department of Neurology, University Hospital of Dijon, University of Burgundy, Dijon, France; Genetics Center, University Hospital of Dijon, University of Burgundy, Dijon, France., Tisserand C; Neurology Department, Hôpital Pierre-Paul Riquet, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Turpinat C; Service de Neurologie, Hopital Gui de Chauliac, CHU de Montpellier, Montpellier, France., Van Damme L; Service de Neurologie, Centre Hospitalier Perpignan, Perpignan, France., Vercruysse O; Department of Neurology, Saint Brieuc Hospital, Saint-Brieuc, France., Villain N; Sorbonne Université, INSERM U1127, CNRS 7235, Institut du Cerveau - ICM, Paris, France; AP-HP Sorbonne Université, Pitié-Salpêtrière Hospital, Department of Neurology, Institute of Memory and Alzheimer's Disease, Paris, France., Wagemann N; CHU Nantes, Memory Center, Inserm CIC4, 44093 Nantes, France., Charbonnier C; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Biostatistics and CNRMAJ, F-76000 Rouen, France., Wallon D; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Neurology and CNRMAJ, F-76000 Rouen, France.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101082. Date of Electronic Publication: 2024 Jan 24.
Autor:
Gourhant L; Université de Brest, EA 3878 (GETBO) Brest 29609, France., Bocher O; Université de Brest, Inserm, EFS, UMR 1078, GGB, CHU de Brest, Brest 29200, France., De Saint Martin L; Université de Brest, EA 3878 (GETBO) Brest 29609, France., Ludwig TE; Université de Brest, Inserm, EFS, UMR 1078, GGB, CHU de Brest, Brest 29200, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, Evry 91057, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, Evry 91057, France., Merviel P; Université de Brest, EA 3878 (GETBO) Brest 29609, France; Division of Gynaecology, University Hospital of Brest Brest 29609, France., Dupré PF; Université de Brest, Inserm, EFS, UMR 1078, GGB, CHU de Brest, Brest 29200, France; Division of Gynaecology, University Hospital of Brest Brest 29609, France., Lemarié CA; Université de Brest, EA 3878 (GETBO) Brest 29609, France; Université de Brest, Inserm, EFS, UMR 1078, GGB, CHU de Brest, Brest 29200, France., Couturaud F; Université de Brest, EA 3878 (GETBO) Brest 29609, France; Université de Brest, Centre d'Investigation Clinique, INSERM CIC 1412 Brest 29609, France., Le Maréchal C; Université de Brest, Inserm, EFS, UMR 1078, GGB, CHU de Brest, Brest 29200, France; Université de Brest, Laboratoire de Génétique Moléculaire et d'Histocompatibilité Brest 29609, France., Génin E; Université de Brest, Inserm, EFS, UMR 1078, GGB, CHU de Brest, Brest 29200, France., Pasquier E; Université de Brest, EA 3878 (GETBO) Brest 29609, France. Electronic address: elisabeth.pasquier@chu-brest.fr.
Publikováno v:
Reproductive biomedicine online [Reprod Biomed Online] 2021 Apr; Vol. 42 (4), pp. 789-798. Date of Electronic Publication: 2021 Jan 19.
Autor:
Quenez O; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Cassinari K; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Coutant S; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Le Guennec K; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Rousseau S; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Richard AC; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Vasseur S; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Bouvignies E; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Bou J; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Lienard G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Manase S; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Fourneaux S; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Drouot N; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Nguyen-Viet V; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Vezain M; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Chambon P; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Joly-Helas G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Le Meur N; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Castelain M; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Boland A; Centre National de Recherche en Génomique Humaine, Institut de Génomique, CEA and Fondation Jean Dausset-CEPH, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine, Institut de Génomique, CEA and Fondation Jean Dausset-CEPH, Evry, France., Tournier I; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Charbonnier F; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Kasper E; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Bougeard G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Frebourg T; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Saugier-Veber P; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Baert-Desurmont S; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Campion D; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Rouen, France.; Department of research, Centre hospitalier du Rouvray, Sotteville-lès-Rouen, France., Rovelet-Lecrux A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Rouen, France., Nicolas G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Rouen, France. gaelnicolas@hotmail.com.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jan; Vol. 29 (1), pp. 99-109. Date of Electronic Publication: 2020 Jun 26.
Autor:
Bis JC; Department of Medicine (General Internal Medicine), University of Washington, Seattle, WA, USA., Jian X; Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA., Kunkle BW; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Chen Y; Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Hamilton-Nelson KL; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Bush WS; Case Western Reserve University, Cleveland Heights, OH, USA., Salerno WJ; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lancour D; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA., Ma Y; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA., Renton AE; Department of Neuroscience and Ronald M Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Marcora E; Department of Neuroscience and Ronald M Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Farrell JJ; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA., Zhao Y; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Qu L; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Ahmad S; Erasmus University Medical Center, Rotterdam, Netherlands., Amin N; Inserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France., Amouyel P; Inserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France.; Institut Pasteur de Lille, Lille, France.; University Lille, U1167-Excellence Laboratory LabEx DISTALZ, Lille, France., Beecham GW; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Below JE; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, TN, USA., Campion D; Department of Genetics and CNR-MAJ, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Research, Centre Hospitalier du Rouvray, Sotteville-lès-, Rouen, France., Cantwell L; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Charbonnier C; Department of Genetics and CNR-MAJ, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Chung J; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA., Crane PK; Department of Medicine (General Internal Medicine), University of Washington, Seattle, WA, USA., Cruchaga C; Department of Psychiatry, Washington University, St. Louis, MO, USA., Cupples LA; Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.; National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA., Dartigues JF; University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, F-33000, Bordeaux, France., Debette S; University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, F-33000, Bordeaux, France.; Department of Neurology and Institute for Neurodegenerative Diseases, Bordeaux University Hospital, Memory Clinic, F-33000, Bordeaux, France., Deleuze JF; Centre National de Recherche en Génomique Humaine, Institut François Jacob, Direction de le Recherche Fondamentale, CEA, Evry, France., Fulton L; McDonnell Genome Institute, Washington University, St. Louis, MO, USA., Gabriel SB; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Genin E; Inserm UMR-1078, CHRU Brest, Université Brest, Brest, France., Gibbs RA; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Goate A; Department of Neuroscience and Ronald M Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Grenier-Boley B; Inserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France., Gupta N; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Haines JL; Case Western Reserve University, Cleveland Heights, OH, USA., Havulinna AS; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.; National Institute for Health and Welfare, Helsinki, Finland., Helisalmi S; Institute of Clinical Medicine - Neurology and Department of Neurology, University of Eastern Finland, Kuopio, Finland., Hiltunen M; Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland., Howrigan DP; Program in Medical and Population Genetics and Genetic Analysis Platform, Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Ikram MA; Erasmus University Medical Center, Rotterdam, Netherlands., Kaprio J; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland., Konrad J; Department of Psychiatry, Washington University, St. Louis, MO, USA., Kuzma A; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Lander ES; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lathrop M; McGill University and Génome Québec Innovation Centre, Montréal, Canada., Lehtimäki T; Department of Clinical Chemistry, Fimlab Laboratories and Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland., Lin H; Department of Medicine (Computational Biomedicine), Boston University School of Medicine, Boston, MA, USA., Mattila K; Department of Clinical Chemistry, Fimlab Laboratories and Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland., Mayeux R; Columbia University, New York, NY, USA., Muzny DM; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Nasser W; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Neale B; Program in Medical and Population Genetics and Genetic Analysis Platform, Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Nho K; Indiana University School of Medicine, Indianapolis, IN, USA., Nicolas G; Department of Genetics and CNR-MAJ, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Patel D; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA., Pericak-Vance MA; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Perola M; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.; National Institute for Health and Welfare, Helsinki, Finland.; University of Tartu, Estonian Genome Center, Tartu, Estonia., Psaty BM; Department of Medicine (General Internal Medicine), University of Washington, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA.; Department of Health Services, University of Washington, Seattle, WA, USA.; Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA., Quenez O; Department of Genetics and CNR-MAJ, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Rajabli F; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Redon R; Inserm, CNRS, Univ. Nantes, CHU Nantes, l'institut du thorax, Nantes, France., Reitz C; Columbia University, New York, NY, USA., Remes AM; Institute of Clinical Medicine - Neurology and Department of Neurology, University of Eastern Finland, Kuopio, Finland.; Unit of Clinical Neuroscience, Neurology, University of Oulu and Medical Research Center, Oulu University Hospital, Oulu, Finland., Salomaa V; National Institute for Health and Welfare, Helsinki, Finland., Sarnowski C; Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Schmidt H; Department of Neurology, Clinical Division of Neurogeriatrics, Medical University of Graz, Graz, Austria., Schmidt M; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Schmidt R; Department of Neurology, Clinical Division of Neurogeriatrics, Medical University of Graz, Graz, Austria., Soininen H; Institute of Clinical Medicine - Neurology and Department of Neurology, University of Eastern Finland, Kuopio, Finland.; Department of Neurology, Kuopio University Hospital, Kuopio, Finland., Thornton TA; Department of Statistics, University of Washington, Seattle, WA, USA., Tosto G; Columbia University, New York, NY, USA., Tzourio C; University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, F-33000, Bordeaux, France., van der Lee SJ; Erasmus University Medical Center, Rotterdam, Netherlands., van Duijn CM; Erasmus University Medical Center, Rotterdam, Netherlands., Valladares O; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Vardarajan B; Columbia University, New York, NY, USA., Wang LS; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Wang W; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Wijsman E; Department of Medicine (Medical Genetics), University of Washington, Seattle, WA, USA.; Department of Biostatistics, University of Washington, Seattle, WA, USA., Wilson RK; McDonnell Genome Institute, Washington University, St. Louis, MO, USA., Witten D; Department of Statistics, University of Washington, Seattle, WA, USA.; Department of Biostatistics, University of Washington, Seattle, WA, USA., Worley KC; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhang X; Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA., Bellenguez C; Inserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France., Lambert JC; Inserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France., Kurki MI; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics and Genetic Analysis Platform, Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Palotie A; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.; Program in Medical and Population Genetics and Genetic Analysis Platform, Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Daly M; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.; Psychiatric & Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Boerwinkle E; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., Lunetta KL; Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Destefano AL; Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.; Departments of Neurology, Boston University School of Medicine, Boston, MA, USA., Dupuis J; Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Martin ER; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Schellenberg GD; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Seshadri S; National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Departments of Neurology, Boston University School of Medicine, Boston, MA, USA.; Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, University of Texas Health Sciences Center, San Antonio, TX, USA., Naj AC; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Fornage M; Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.; School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., Farrer LA; Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA. farrer@bu.Edu.; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA. farrer@bu.Edu.; Departments of Neurology, Boston University School of Medicine, Boston, MA, USA. farrer@bu.Edu.; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA. farrer@bu.Edu.; Department of Ophthalmology, Boston University School of Medicine, Boston, MA, USA. farrer@bu.Edu.
Publikováno v:
Molecular psychiatry [Mol Psychiatry] 2020 Aug; Vol. 25 (8), pp. 1859-1875. Date of Electronic Publication: 2018 Aug 14.
Autor:
Thauvin-Robinet C; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France. christel.thauvin@chu-dijon.fr.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France. christel.thauvin@chu-dijon.fr.; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement de l'Interrégion Est, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France. christel.thauvin@chu-dijon.fr.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon, Dijon, France. christel.thauvin@chu-dijon.fr., Thevenon J; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement de l'Interrégion Est, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon, Dijon, France., Nambot S; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement de l'Interrégion Est, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Delanne J; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement de l'Interrégion Est, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Kuentz P; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France., Bruel AL; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon, Dijon, France., Chassagne A; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; CIC-IT Inserm 808, Centre Hospitalier Universitaire de Besançon et Université de Bourgogne-Franche Comté, Besançon, France., Cretin E; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; CIC-IT Inserm 808, Centre Hospitalier Universitaire de Besançon et Université de Bourgogne-Franche Comté, Besançon, France., Pelissier A; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; EES-LEDI, Université de Bourgogne - UMR CNRS INSERM, Dijon, France., Peyron C; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; EES-LEDI, Université de Bourgogne - UMR CNRS INSERM, Dijon, France., Gautier E; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France., Lehalle D; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement de l'Interrégion Est, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Jean-Marçais N; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement de l'Interrégion Est, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Callier P; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon, Dijon, France., Mosca-Boidron AL; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon, Dijon, France., Vitobello A; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon, Dijon, France., Sorlin A; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement de l'Interrégion Est, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon, Dijon, France., Tran Mau-Them F; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon, Dijon, France., Philippe C; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon, Dijon, France., Vabres P; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France., Demougeot L; Filière AnDDI-Rares, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France., Poé C; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France., Jouan T; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France., Chevarin M; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France., Lefebvre M; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement de l'Interrégion Est, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Bardou M; CIC-EC 1432, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France., Tisserant E; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France., Luu M; CIC-EC 1432, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France., Binquet C; CIC-EC 1432, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France., Deleuze JF; Centre National de Recherche en Génomique Humaine, Evry, France., Verstuyft C; CESP/UMR-S1178, Equipe 'Dépression et Antidépresseurs', Université Paris-Sud, Faculté de Médecine, Université Paris-Saclay, et Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre, France., Duffourd Y; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France., Faivre L; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France. laurence.faivre@chu-dijon.fr.; Inserm UMR 1231 GAD « Génétique des Anomalies du Développement », Université de Bourgogne, Dijon, France. laurence.faivre@chu-dijon.fr.; Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement de l'Interrégion Est, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France. laurence.faivre@chu-dijon.fr.; Centre National de Recherche en Génomique Humaine, Evry, France. laurence.faivre@chu-dijon.fr.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Aug; Vol. 27 (8), pp. 1197-1214. Date of Electronic Publication: 2019 Apr 24.
Autor:
Palomares MA; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, 91057, Evry, France.; Université Paris-Saclay, 91190, Saint-Aubin, France., Dalmasso C; Laboratoire de Mathématiques et Modélisation ďÉvry (LaMME), Université ďEvry Val ďEssonne, 91000, Evry, France.; UMR CNRS 8071, 91000, Evry, France.; Ecole Nationale Supérieure ďInformatique pour l'Industrie et l'Entreprise, ENSIIE, 91000, Evry, France.; USC INRA, 91000, Evry, France., Bonnet E; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, 91057, Evry, France. eric.bonnet@cng.fr.; Université Paris-Saclay, 91190, Saint-Aubin, France. eric.bonnet@cng.fr., Derbois C; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, 91057, Evry, France.; Université Paris-Saclay, 91190, Saint-Aubin, France., Brohard-Julien S; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, 91057, Evry, France.; Université Paris-Saclay, 91190, Saint-Aubin, France., Ambroise C; Laboratoire de Mathématiques et Modélisation ďÉvry (LaMME), Université ďEvry Val ďEssonne, 91000, Evry, France.; UMR CNRS 8071, 91000, Evry, France.; Ecole Nationale Supérieure ďInformatique pour l'Industrie et l'Entreprise, ENSIIE, 91000, Evry, France.; USC INRA, 91000, Evry, France., Battail C; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, 91057, Evry, France.; Université Paris-Saclay, 91190, Saint-Aubin, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, 91057, Evry, France.; Université Paris-Saclay, 91190, Saint-Aubin, France., Olaso R; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, 91057, Evry, France.; Université Paris-Saclay, 91190, Saint-Aubin, France.
Publikováno v:
Scientific reports [Sci Rep] 2019 May 17; Vol. 9 (1), pp. 7550. Date of Electronic Publication: 2019 May 17.
Autor:
Bonnet E; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Moutet ML; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Baulard C; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Bacq-Daian D; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Sandron F; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Mesrob L; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Fin B; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Delépine M; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Palomares MA; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Jubin C; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Blanché H; Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, Paris, France., Meyer V; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Boland A; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Olaso R; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, Direction de la Recherche Fondamentale, CEA, Evry, France.; LabEx GenMed, Evry, France.; Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset, Paris, France.; Centre de REFérence, d'Innovation, d'eXpertise et de transfert (CREFIX), Evry, France.
Publikováno v:
PloS one [PLoS One] 2018 Apr 05; Vol. 13 (4), pp. e0195471. Date of Electronic Publication: 2018 Apr 05 (Print Publication: 2018).
Autor:
Soilly, Al, Robert-Viard, C, Besse, C, Bruel, Al, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, Ml, Deleuze, Jf, Binquet, C, Thauvin-Robinet, C, Lejeune, C, Arpin, S, Blanchet, P, Blesson, S, Boute-Benejean, O, Busa, T, Colin, E, Coubes, C, Devillard, F, Edery, P, El Chehadeh, S, Fradin, M, Goldenberg, A, Guerrot, A-M, Herenger, Y, Houcinat, N, Jean-Marcais, N, Jouk, P., Lambert, L, Lavillaureix, A, Legendre, M, Leheup, B, Manouvrier, S, Mercier, S, Moutton, S, Nizon, M, Pasquier, L, Petit, F, Pinson, L, Poirsier, C, Pons, L, Putoux, A, Quelin, C, Renaud, M, Rossi, M, Sorlin, A, Spodenkiewicz, M, Thevenon, J, Toutain, A, Van-Gils, J, Vanlerberghe, C, Verloes, A, Vincent, M, Vincent-Delorme, C, Willems, M, Ziegler, A
Publikováno v:
BMC Health Services Research
BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩
BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩
Background: With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c32699af80841f12baa0810b47fab1ea
https://univ-rennes.hal.science/hal-04164227
https://univ-rennes.hal.science/hal-04164227