부산대학교 도서관

Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat-Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye-Duriez, Andrée; Doco-Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaëtan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A.; Morgan, Angela T.; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz-Pallares, Nathalie; Tran-Mau-Them, Frederic; Van Kessel, Imke N.; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David

In Genetics in Medicine May 2022 24(5):1096-1107

Haghshenas, S.; Levy, M.A.; Relator, R.; Kerkhof, J.; McConkey, H.; Sadikovic, B.; Putoux, A.; Edery, P.; Lesca, G.; Reilly, J.; Ghosh, S.; Besson, A.; Coubes, C.; Willems, M.; Sabbagh, Q.; Genevieve, D.; Ruiz-Pallares, N.; Barat-Houari, M.; Tizzano, E.F.; Valenzuela, I.; Clayton-Smith, J.; Jackson, A.; Banka, S.; O'Sullivan, J.; Bromley, R.

In: Genetics in Medicine. (Genetics in Medicine, October 2024, 26(10))

Sabbagh Q; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Piard J; University Hospital of Besançon, Department of Clinical Genetics, Besançon, France.; Trouvé C; University Hospital of Besançon, Department of Clinical Genetics, Besançon, France.; Amiel J; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Attié-Bitach T; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Balci T; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Barat-Houari M; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Belonis A; Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, OH; University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH.; Boute O; University Hospital of Lille, Department of Clinical Genetics, Lille, France.; Brightman DS; Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, OH.; Bruel AL; University Hospital of Dijon, Laboratory of Molecular Genetics and Cytogenetics, Inserm UMR 1231 GAD, Dijon, France.; Caraffi SG; Azienda USL-IRCCS di Reggio Emilia, Medical Genetics Unit, 42123 Reggio Emilia, Italy.; Chatron N; University Hospital of Lyon, Laboratory of Medical Genetics, AURAGEN Platform, Lyon, France.; Collet C; Robert Debré University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Dufour W; University Hospital of Lille, Department of Clinical Genetics, Lille, France.; Edery P; University Hospital of Lyon, Department of Clinical Genetics, Lyon, France.; Fong CT; University of Rochester, Department of Genetics, Rochester, NY.; Fusco C; Azienda USL-IRCCS di Reggio Emilia, Child Neurology and Psychiatry Unit, 42123 Reggio Emilia, Italy.; Gatinois V; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Gouy E; University Hospital of Lyon, Department of Clinical Genetics, Lyon, France.; Guerrot AM; Rouen-Normandie University, University Hospital of Rouen, Department of Genetics, Reference Center for Developmental Disorders, Inserm UMR1245, F-76000 Rouen, France.; Heide S; Pitié-Salpêtrière University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Joshi A; Churchill Hospital, Department of Clinical Genetics, ERN-ITHACA, Oxford, United Kingdom.; Karp N; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Keren B; Pitié-Salpêtrière University Hospital, Laboratory of Molecular Genetics and Cytogenetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Lesieur-Sebellin M; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Levy J; Robert Debré University Hospital, Laboratory of Cytogenetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Lozano C; University Hospital of Montpellier, Department of Immunology, Montpellier, France.; Lyonnet S; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Margot H; University of Bordeaux, University Hospital of Bordeaux, Department of Medical Genetics, MRGM Inserm UMR1211, F-33000 Bordeaux, France.; Marzin P; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Michaud V; University of Bordeaux, University Hospital of Bordeaux, Department of Medical Genetics, MRGM Inserm UMR1211, F-33000 Bordeaux, France.; Nicolas G; Rouen-Normandie University, University Hospital of Rouen, Department of Genetics, Reference Center for Developmental Disorders, Inserm UMR1245, F-76000 Rouen, France.; Nizard M; Necker-Enfants Malades University Hospital, Department of Pediatric Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Paulet A; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Peluso F; Azienda USL-IRCCS di Reggio Emilia, Medical Genetics Unit, 42123 Reggio Emilia, Italy.; Pernin V; University of Montpellier, Department of Nephrology, Montpellier, France.; Perrin L; Robert Debré University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Philippe C; University Hospital of Dijon, Laboratory of Molecular Genetics and Cytogenetics, Inserm UMR 1231 GAD, Dijon, France; Hospital of Metz-Thionville, Mercy Hospital, Laboratory of Genetics, Metz, France.; Prasad C; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Prasad M; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Rio M; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Rondeau S; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Ruault V; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France.; Ruiz-Pallares N; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Sanchez E; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Shears D; Churchill Hospital, Department of Clinical Genetics, ERN-ITHACA, Oxford, United Kingdom.; Siu VM; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Sorlin A; University Hospital of Dijon, Laboratory of Molecular Genetics and Cytogenetics, Inserm UMR 1231 GAD, Dijon, France.; Tedder M; Greenwood Genetic Centre, Greenwod, SC.; Tharreau M; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Mau-Them FT; University Hospital of Dijon, Laboratory of Molecular Genetics and Cytogenetics, Inserm UMR 1231 GAD, Dijon, France.; van der Laan L; University of Amsterdam, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, AUMC Department of Human Genetics, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Van Gils J; University of Bordeaux, University Hospital of Bordeaux, Department of Medical Genetics, MRGM Inserm UMR1211, F-33000 Bordeaux, France.; Verloes A; Robert Debré University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Whalen S; Pitié-Salpêtrière University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Willems M; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France.; Yauy K; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France.; Zuntini R; Azienda USL-IRCCS di Reggio Emilia, Medical Genetics Unit, 42123 Reggio Emilia, Italy.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Geneviève D; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France. Electronic address: d-genevieve@chu-montpellier.fr.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Sabbagh Q; Montpellier University, Service de Génétique Clinique, Centre de Compétence Maladies Osseuses Constitutionnelles, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Tharreau M; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Cenni C; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Sanchez E; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Ruiz-Pallares N; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Alkar F; Montpellier University, Service de Génétique Clinique, Centre de Compétence Maladies Osseuses Constitutionnelles, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Amouroux C; Montpellier University, Pediatric Endocrinology and Nephrology Unit, Rare Diseases Competence Center for Bone Mineral Disease and Skeletal Dysplasia, OSCAR Network, Montpellier University Hospital, Montpellier, France.; David S; Montpellier University, Département d'Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Prodhomme O; Montpellier University, Département d'Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Leboucq N; Montpellier University, Département d'Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Meunier I; Montpellier University, Département dOphtalmologie, Centre de Référence Maladies Sensorielles Génétiques, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Bessis D; Montpellier University, Département de Dermatologie, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Theron A; Montpellier University, Service d'Onco-hématologie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Barat-Houari M; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Willems M; Montpellier University, Service de Génétique Clinique, Centre de Compétence Maladies Osseuses Constitutionnelles, Centre Hospitalier Universitaire de Montpellier, Montpellier, France; Montpellier University, Institute for Neurosciences of Montpellier, INSERM, Montpellier, France. Electronic address: m-willems@chu-montpellier.fr.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Aref-Eshghi, E.; Kerkhof, J.; Pedro, V.P.; Barat-Houari, M.; Ruiz-Pallares, N.; Andrau, J.C.; Lacombe, D.; Van-Gils, J.; Fergelot, P.; Dubourg, C.; Cormier-Daire, V.; Rondeau, S.; Lecoquierre, F.; Saugier-Veber, P.; Nicolas, G.; Lesca, G.; Chatron, N.; Sanlaville, D.; Vitobello, A.; Faivre, L.; Thauvin-Robinet, C.; Laumonnier, F.; Raynaud, M.; Alders, M.; Mannens, M.; Henneman, P.; Hennekam, R.C.; Velasco, G.; Francastel, C.; Ulveling, D.; Ciolfi, A.; Pizzi, S.; Tartaglia, M.; Heide, S. van der; Heron, D.; Mignot, C.; Keren, B.; Whalen, S.; Afenjar, A.; Bienvenu, T.; Campeau, P.M.; Rousseau, J.; Levy, M.A.; Brick, L.; Kozenko, M.; Balci, T.B.; Siu, V.M.; Stuart, A.; Kadour, M.; Masters, J.; Takano, K.; Kleefstra, T.; Leeuw, N. de; Field, M.; Shaw, M.; Gecz, J.; Ainsworth, P.J.; Lin, H.; Rodenhiser, D.I.; Friez, M.J.; Tedder, M.; Lee, Jae Lyun; DuPont, B.R.; Stevenson, R.E.; Skinner, S.A.; Schwartz, C.E.; Genevieve, D.; Sadikovic, B.

American Journal of Human Genetics; 356; 370; 0002-9297; 3; 106; ~American Journal of Human Genetics~356~370~~~0002-9297~3~106~~

Wells CF; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Boursier G; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Yauy K; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Institute of Advanced Biosciences, Centre de recherche UGA, Inserm U 1209, CNRS UMR 5309, Grenoble, France.; SeqOne Genomics, Montpellier, France.; Ruiz-Pallares N; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Mechin D; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Ruault V; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Tharreau M; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Blanchet P; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Pinson L; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Coubes C; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Fila M; Pediatric Nephrology department, Montpellier university hospital, Univ, Montpellier, France.; Baleine J; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.; Pidoux O; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.; Badr M; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.; Milesi C; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.; Cambonie G; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.; Mesnage R; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.; Dereure M; Clinical research and epidemiology department, Montpellier university hospital, Univ, Montpellier, France.; Ardouin O; Molecular medicine and genomics platform, Montpellier university hospital, Montpellier, France.; Guignard T; Unit of Chromosomal Genetics and Research Plateform Chromostem, Montpellier university hospital, Univ, Montpellier, France.; Geneviève D; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Barat-Houari M; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.; Willems M; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France. m-willems@chu-montpellier.fr.; Inserm U1298, INM, CHU Montpellier, Univ. Montpellier, Montpellier, France. m-willems@chu-montpellier.fr.; Reference Centre AD SOOR, AnDDI-RARE, Competence Centre for Rare Skeletal Disorders, OSCAR Network, Montpellier, France. m-willems@chu-montpellier.fr.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Aref-Eshghi E; Kerkhof J; Pedro VP; France GD; Barat-Houari M; Ruiz-Pallares N; Andrau JC; Lacombe D; Van-Gils J; Fergelot P; Dubourg C; Cormier-Daire V; Rondeau S; Lecoquierre F; Saugier-Veber P; Nicolas G; Lesca G; Chatron N; Sanlaville D; Vitobello A; Faivre L; Thauvin-Robinet C; Laumonnier F; Raynaud M; Alders M; Mannens M; Henneman P; Hennekam RC; Velasco G; Francastel C; Ulveling D; Ciolfi A; Pizzi S; Tartaglia M; Heide S; Héron D; Mignot C; Keren B; Whalen S; Afenjar A; Bienvenu T; Campeau PM; Rousseau J; Levy MA; Brick L; Kozenko M; Balci TB; Siu VM; Stuart A; Kadour M; Masters J; Takano K; Kleefstra T; de Leeuw N; Field M; Shaw M; Gecz J; Ainsworth PJ; Lin H; Rodenhiser DI; Friez MJ; Tedder M; Lee JA; DuPont BR; Stevenson RE; Skinner SA; Schwartz CE; Genevieve D; Sadikovic B

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

Aref-Eshghi E; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.; Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.; Pedro VP; Schulich School of Medicine and Dentistry, University of Western Ontario, London, ON N6A5C1, Canada.; Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France.; Ruiz-Pallares N; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, 34090 Montpellier, France.; Andrau JC; Institut de Génétique Moléculaire de Montpellier (IGMM), University Montpellier, CNRS-UMR5535, 34090 Montpellier, France.; Lacombe D; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.; Van-Gils J; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.; Fergelot P; Medical Genetics Department, Inserm U1211, Reference Center AD SOOR, AnDDI-RARE, Bordeaux University, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.; Dubourg C; Service de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, 35000 Rennes, France.; Cormier-Daire V; Department of Medical Genetics, Paris Descartes University, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France.; Rondeau S; Department of Medical Genetics, Paris Descartes University, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital, 75015 Paris, France.; Lecoquierre F; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, 76183 Rouen, France.; Saugier-Veber P; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, 76183 Rouen, France.; Nicolas G; Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, F 76000, Normandy Center for Genomic and Personalized Medicine, 76183 Rouen, France.; Lesca G; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.; Chatron N; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.; Sanlaville D; Department of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.; Vitobello A; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, 21000 Dijon, France.; Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon, 21000, Dijon, France.; Thauvin-Robinet C; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon, 21000, Dijon, France.; Laumonnier F; UMR 1253, iBrain, Universite de Tours, Inserm, 37200 Tours, France; Centre Hospitalier Universitaire de Tours, Service de Genetique, 37000 Tours, France.; Raynaud M; UMR 1253, iBrain, Universite de Tours, Inserm, 37200 Tours, France; Centre Hospitalier Universitaire de Tours, Service de Genetique, 37000 Tours, France.; Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Mannens M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Henneman P; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.; Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, 1012 WX, the Netherlands.; Velasco G; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, 75013 Paris, France.; Francastel C; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, 75013 Paris, France.; Ulveling D; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, 75013 Paris, France.; Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.; Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00146 Rome, Italy.; Heide S; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.; Héron D; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.; Mignot C; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.; Keren B; Department of Genetics, Referral Center for Intellectual Disabilities, APHP Sorbonne University, Pitié Salpêtrière Hospital, 75013 Paris, France.; Whalen S; Unit of Genetics, APHP Sorbonne University, Trousseau Hospital, 75012 Paris, France.; Afenjar A; 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Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Tran Mau-Them F; Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.; Willems M; Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.; Albrecht B; Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg-Essen Hufelandstr, Essen, Germany.; Sanchez E; Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.; Puechberty J; Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.; Endele S; Humangenetisches Institut Erlangen, Universitat Erlangen-Nurnberg, Erlangen, Germany.; Schneider A; Service de Genetique Chromosomique, Plateforme Puce a ADN, Hopital Arnaud de Villeneuve, CHRU Montpellier,Montpellier, France.; Ruiz Pallares N; 1] Service de Genetique Chromosomique, Plateforme Puce a ADN, Hopital Arnaud de Villeneuve, CHRU Montpellier,Montpellier, France [2] Laboratoire de Genetique, Unite Medicale des Maladies Auto-Inflammatoire, Hopital Arnaud de Villeneuve, CHRU Montpellier, Faculte de Medecine, Universite Montpellier, Montpellier, France.; Missirian C; Département de génétique médicale, Unité de génétique clinique, CHU de Marseille, Hôpital de la Timone, Marseille, France.; Rivier F; Departement de Neuropediatrie, Hopital St Eloi, CHRU Montpellier, Montpellier, France.; Girard M; Service de Genetique Chromosomique, Plateforme Puce a ADN, Hopital Arnaud de Villeneuve, CHRU Montpellier,Montpellier, France.; Holder M; Departement de Genetique, Hopital Jeanne de Flandre, CHRU Lille, Lille, France.; Manouvrier S; Departement de Genetique, Hopital Jeanne de Flandre, CHRU Lille, Lille, France.; Touitou I; Laboratoire de Genetique, Unite Medicale des Maladies Auto-Inflammatoire, Hopital Arnaud de Villeneuve, CHRU Montpellier, Faculte de Medecine, Universite Montpellier, Montpellier, France.; Lefort G; Service de Genetique Chromosomique, Plateforme Puce a ADN, Hopital Arnaud de Villeneuve, CHRU Montpellier,Montpellier, France.; Sarda P; Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.; Moncla A; Departement de Neuropediatrie, Hopital St Eloi, CHRU Montpellier, Montpellier, France.; Drunat S; UF de Genetique Moleculaire et de Biochimie, Pole Biologie et Pharmacie, CHU Robert Debre, APHP.; Wieczorek D; Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg-Essen Hufelandstr, Essen, Germany.; Genevieve D; Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Tran Mau-Them, F.; Willems, M.; Sanchez, E.; Puechberty, J.; Sarda, P.; Genevieve, D.; Albrecht, B.; Wieczorek, D.; Endele, S.; Schneider, A.; Girard, M.; Lefort, G.; Ruiz Pallares, N.; Touitou, I.; Missirian, C.; Rivier, F.; Moncla, A.; Holder, M.; Manouvrier, S.; Drunat, S.

In: European Journal of Human Genetics. (European Journal of Human Genetics, In Press, 15 May 2013)