부산대학교 도서관

Cuinat S; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France silvestre.cuinat@hotmail.fr.; Quélin C; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France.; Service d'Anatomie et Cytologie Pathologiques, Hôpital Pontchaillou, CHU Rennes, Rennes, France.; Effray C; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France.; Dubourg C; Laboratoire de Génétique Moléculaire, Hôpital Pontchaillou, CHU Rennes, Rennes, France.; CNRS, INSERM UMR 6290, ERL U1305, F-35000, Université de Rennes, IGDR, Rennes, France.; Le Bouar G; Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France.; Cabaret-Dufour AS; Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France.; Loget P; Service d'Anatomie et Cytologie Pathologiques, Hôpital Pontchaillou, CHU Rennes, Rennes, France.; Proisy M; Radiology Department, CHU de Brest, Brest, France.; Sauvestre F; Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France.; Sarreau M; Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France.; Martin-Berenguer S; Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France.; Department of Gynaecology and Obstetrics, Mother and Children's Hospital, CHU Limoges, Limoges, France.; Beneteau C; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; Naudion S; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; Michaud V; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.; Arveiler B; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.; Trimouille A; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France.; Macé P; Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE2, Marseille, France.; Sigaudy S; Département de Génétique Médicale, Hôpital Timone Enfant, AP-HM, Marseille, France.; Glazunova O; Département de Génétique Médicale, Hôpital Timone Enfant, AP-HM, Marseille, France.; Torrents J; Department of Pathology and Neuropathology, La Timone Hospital, Aix Marseille University, AP-HM, Marseille, France.; Raymond L; Genetics Department, Laboratoire Eurofins Biomnis, Lyon, France.; Saint-Frison MH; Foetopathology Unit, AP-HP Nord, Hôpital Robert Debré, Paris, France.; Attié-Bitach T; Service de Médecine Génomique des Maladies Rares, Hopital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.; INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Lefebvre M; Service de Pathologie fœtale, Hôpital Universitaire Armand Trousseau, AP-HP, Paris, France.; Capri Y; Département de Génétique, Hôpital Robert Debré, AP-HP, Paris, France.; Bourgon N; Service d'Obstétrique-Maternité Chirurgie, Médecine et Imagerie foetales, AP-HP, Hopital Universitaire Necker-Enfants Malades, Paris, France.; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Thauvin-Robinet C; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France.; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, Dijon, France.; Tran Mau-Them F; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France.; Bruel AL; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France.; Vitobello A; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France.; Denommé-Pichon AS; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France.; Faivre L; UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France.; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, Dijon, France.; Brehin AC; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, F-76000, CHU de Rouen, Rouen, France.; Inserm U1245, Université de Rouen Normandie, Rouen, France.; Goldenberg A; Inserm U1245, Université de Rouen Normandie, Rouen, France.; Department of Genetics and Reference Center for Developmental Abnormalities, F-76000, CHU de Rouen, Rouen, France.; Patrier-Sallebert S; Service de Fœtopathologie, CHU de Rouen, Rouen, France.; Perani A; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France.; Dauriat B; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France.; Bourthoumieu S; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France.; UMR 7252, CNRS, XLIM, F-87000, Université de Limoges, Limoges, France.; Yardin C; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France.; UMR 7252, CNRS, XLIM, F-87000, Université de Limoges, Limoges, France.; Marquet V; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France.; Barnique M; Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France.; Fiorenza-Gasq M; Department of Gynaecology and Obstetrics, Mother and Children's Hospital, CHU Limoges, Limoges, France.; Marey I; INSERM U1209, Institute for Advanced Bioscience, Université Grenoble Alpes, Grenoble, France.; Tournadre D; CPDPN de Grenoble, Echographie obstétricale dépistage et diagnostic, CHU Grenoble Alpes, Grenoble, France.; Doumit R; Service d'Imagerie Pédiatrique, CHU Grenoble Alpes, Grenoble, France.; Nugues F; Service d'Imagerie Pédiatrique, CHU Grenoble Alpes, Grenoble, France.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Bustos F; Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA.; Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Vermillion, South Dakota, USA.; Jaillard S; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.; EHESP, INSERM U1085 IRSET, Université de Rennes 1, Rennes, France.; Launay E; Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France.; Pasquier L; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France.; CNRS, INSERM UMR 6290, ERL U1305, F-35000, Université de Rennes, IGDR, Rennes, France.; FHU GenoMeds, ERN ITHACA, CHU Rennes, Rennes, France.; Odent S; Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France.; CNRS, INSERM UMR 6290, ERL U1305, F-35000, Université de Rennes, IGDR, Rennes, France.; FHU GenoMeds, ERN ITHACA, CHU Rennes, Rennes, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Oetjens M; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA.; Shimelis H; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA.; Taylor CM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA.; Pounraja VK; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Song H; Department of Statistics, Pennsylvania State University, University Park, PA 16802, USA.; Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; El Khattabi L; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; van de Laar I; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands.; Tadros R; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands.; Bezzina C; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands.; Kammeraad J; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands.; Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy.; Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium.; Fraser H; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK.; Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.; Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Voorhoeve E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Callier P; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.; Mosca-Boidron AL; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.; Marle N; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.; Lefebvre M; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France.; Pope K; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia.; Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia.; Boys A; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia.; Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Ashfaq M; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center, Houston, TX 77030, USA.; McCready E; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.; Nowacyzk M; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.; Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Mattina T; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Fichera M; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Section of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania School of Medicine, Catania, Italy.; Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Mandarà GML; Medical Genetics, ASP Ragusa, Ragusa, Italy.; Mari F; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Privitera F; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Longo I; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Curró A; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Renieri A; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75019 Paris, France.; Charles P; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75019 Paris, France.; Cuinat S; CHU Nantes, Medical Genetics Department, Nantes, France.; Nizon M; CHU Nantes, Medical Genetics Department, Nantes, France.; Pichon O; CHU Nantes, Medical Genetics Department, Nantes, France.; Bénéteau C; CHU Nantes, Medical Genetics Department, Nantes, France.; Stoeva R; CHU Nantes, Medical Genetics Department, Nantes, France.; Martin-Coignard D; Service de Cytogenetique, CHU de Le Mans, Le Mans, France.; Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France.; Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France.; Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France.; Mercier S; Department of Genetics, Bretonneau University Hospital, Tours, France.; Vincent M; Department of Genetics, Bretonneau University Hospital, Tours, France.; Martin C; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA.; Mannik K; Institute of Genomics, University of Tartu, Estonia.; Health2030 Genome Center, Fondation Campus Biotech, Geneva, Switzerland.; Reymond A; Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Switzerland.; Faivre L; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France.; Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.; Amor DJ; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Section of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania School of Medicine, Catania, Italy.; Andrieux J; Institut de Genetique Medicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France.; Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada.; Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Möller S; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Wendlandt M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Ruffier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Toutain B; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Poirier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Kritzer A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA, USA.; Crunk A; GeneDx, Gaithersburg, MD 20877, USA.; diMonda J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.; Vengoechea J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.; Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Kleinendorst L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; van Haelst MM; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands.; Zuurbier L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands.; Sulem T; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Katrínardóttir H; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Friðriksdóttir R; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Sulem P; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Stefansson K; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.; Jonsdottir B; Childrens Hospital Hringurinn, National University Hospital of Iceland, Reykjavik, Iceland.; Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Naveh N; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Isikay S; Division of Pediatric Neurology, Department of Pediatrics, Gaziantep Islam, Science and Technology University Faculty of Medicine, Gaziantep, Türkiye.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Nizon M; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; McWalter K; GeneDx, Gaithersburg, MD 20877, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany. Electronic address: elke.krueger@uni-greifswald.de.; Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Ebstein F; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany. Electronic address: frederic.ebstein@univ-nantes.fr.

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

Cuinat S; Nantes Université, CHU Nantes, Service de génétique médicale, Nantes, France - Nantes Université, CNRS, Inserm, Institut du thorax, IRS-UN, Nantes, France.; Bézieau S; Nantes Université, CHU Nantes, Service de génétique médicale, Nantes, France - Nantes Université, CNRS, Inserm, Institut du thorax, IRS-UN, Nantes, France.; Deb W; Nantes Université, CHU Nantes, Service de génétique médicale, Nantes, France - Nantes Université, CNRS, Inserm, Institut du thorax, IRS-UN, Nantes, France.; Mercier S; Nantes Université, CHU Nantes, Service de génétique médicale, Nantes, France - Nantes Université, CNRS, Inserm, Institut du thorax, IRS-UN, Nantes, France.; Vignard V; Nantes Université, CHU Nantes, Service de génétique médicale, Nantes, France - Nantes Université, CNRS, Inserm, Institut du thorax, IRS-UN, Nantes, France.; Toutain B; Nantes Université, CNRS, Inserm, Institut du thorax, IRS-UN, Nantes, France.; Isidor B; Nantes Université, CHU Nantes, Service de génétique médicale, Nantes, France - Nantes Université, CNRS, Inserm, Institut du thorax, IRS-UN, Nantes, France.; Küry S; Nantes Université, CHU Nantes, Service de génétique médicale, Nantes, France - Nantes Université, CNRS, Inserm, Institut du thorax, IRS-UN, Nantes, France.; Ebstein F; Nantes Université, CNRS, Inserm, Institut du thorax, IRS-UN, Nantes, France.

Publisher: EDK Country of Publication: France NLM ID: 8710980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1958-5381 (Electronic) Linking ISSN: 07670974 NLM ISO Abbreviation: Med Sci (Paris) Subsets: MEDLINE

Küry S; Stanton JE; van Woerden G; Hsieh TC; Rosenfelt C; Scott-Boyer MP; Most V; Wang T; Papendorf JJ; de Konink C; Deb W; Vignard V; Studencka-Turski M; Besnard T; Hajdukowicz AM; Thiel F; Möller S; Florenceau L; Cuinat S; Marsac S; Wentzensen I; Tuttle A; Forster C; Striesow J; Golnik R; Ortiz D; Jenkins L; Rosenfeld JA; Ziegler A; Houdayer C; Bonneau D; Torti E; Begtrup A; Monaghan KG; Mullegama SV; Volker-Touw CMLN; van Gassen KLI; Oegema R; de Pagter M; Steindl K; Rauch A; Ivanovski I; McDonald K; Boothe E; Dauber A; Baker J; Fabie NAV; Bernier RA; Turner TN; Srivastava S; Dies KA; Swanson L; Costin C; Jobling RK; Pappas J; Rabin R; Niyazov D; Tsai AC; Kovak K; Beck DB; Malicdan M; Adams DR; Wolfe L; Ganetzky RD; Muraresku C; Babikyan D; Sedláček Z; Hančárová M; Timberlake AT; Al Saif H; Nestler B; King K; Hajianpour MJ; Costain G; Prendergast D; Li C; Geneviève D; Vitobello A; Sorlin A; Philippe C; Harel T; Toker O; Sabir A; Lim D; Hamilton M; Bryson L; Cleary E; Weber S; Hoffman TL; Cueto-González AM; Tizzano EF; Gómez-Andrés D; Codina-Solà M; Ververi A; Pavlidou E; Lambropoulos A; Garganis K; Rio M; Levy J; Jurgensmeyer S; McRae AM; Lessard MK; D'Agostino MD; De Bie I; Wegler M; Jamra RA; Kamphausen SB; Bothe V; Busch LM; Völker U; Hammer E; Wende K; Cogné B; Isidor B; Meiler J; Bosc-Rosati A; Marcoux J; Bousquet MP; Poschmann J; Laumonnier F; Hildebrand PW; Eichler EE; McWalter K; Krawitz PM; Droit A; Elgersma Y; Grabrucker AM; Bolduc FV; Bézieau S; Ebstein F; Krüger E

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Dyer L; GeneDx, Gaithersburg, MD 20877, USA.; Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA.; Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.; Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.; El Khattabi L; Assistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France.; Prontera P; Medical Genetics Unit, Hospital 'Santa Maria della Misericordia', Perugia, Italy.; Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium.; Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.; Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Faivre L; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.; Callier P; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.; Mosca-Boidron AL; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, Dijon, France.; Lefebvre M; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.; Pope K; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Snell P; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Mattina T; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.; Fichera M; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.; Luana Mandarà GM; Medical Genetics, ASP Ragusa, Ragusa, Italy.; Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.; Pichon O; CHU Nantes, Department of Medical Genetics, Nantes, France.; Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France.; Stoeva R; Service de Cytogenetique, CHU de Le Mans, Le Mans, France.; Cuinat S; CHU Nantes, Department of Medical Genetics, Nantes, France.; Mercier S; CHU Nantes, Department of Medical Genetics, Nantes, France.; Bénéteau C; CHU Nantes, Department of Medical Genetics, Nantes, France.; Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France.; Nordsletten A; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.; Martin-Coignard D; Department of Genetics, Bretonneau University Hospital, Tours, France.; Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, the Netherlands.; Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.; Amor DJ; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Romano C; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy; Medical Genetics, ASP Ragusa, Ragusa, Italy.; Isidor B; CHU Nantes, Department of Medical Genetics, Nantes, France.; Juusola J; GeneDx, Gaithersburg, MD 20877, USA.; Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. Electronic address: sxg47@psu.edu.

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

Cuinat S; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France. Electronic address: silvestre.cuinat@hotmail.fr.; Quélin C; CHU Hôpital Sud, Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, France; CHU Pontchaillou, Service d'Anatomie et de Cytologie Pathologiques, Rennes, France.; Pasquier L; CHU Hôpital Sud, Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, France.; Loget P; CHU Pontchaillou, Service d'Anatomie et de Cytologie Pathologiques, Rennes, France.; Aussel D; Clinique La Sagesse, Service de Gynécologie-Obstétrique, Rennes, France.; Odent S; CHU Hôpital Sud, Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, France.; Laquerrière A; CHU de Rouen Laboratoire d'Anatomie et de Cytologie Pathologiques, Institut de biologie clinique, Rouen, France.; Proisy M; CHU de Brest, Département de Radiologie, Brest University, 29609, Brest, Cedex, France.; Mazoyer S; Centre de Recherche en Neurosciences de Lyon, équipe GENDEV, INSERM U1028 CNRS UMR5292 UCBL1, Lyon, France.; Delous M; Centre de Recherche en Neurosciences de Lyon, équipe GENDEV, INSERM U1028 CNRS UMR5292 UCBL1, Lyon, France.; Edery P; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Centre de Recherche en Neurosciences de Lyon, équipe GENDEV, INSERM U1028 CNRS UMR5292 UCBL1, Lyon, France.; Chatron N; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Lesca G; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Putoux A; Hospices Civils de Lyon, Service de Génétique, Centre Labélisé Anomalies du Développement CLAD Sud-Est, Lyon, France; Centre de Recherche en Neurosciences de Lyon, équipe GENDEV, INSERM U1028 CNRS UMR5292 UCBL1, Lyon, France. Electronic address: audrey.putoux@chu-lyon.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

Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes F-44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes F-44000, France.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes F-44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes F-44000, France.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes F-44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes F-44000, France.; Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes F-44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes F-44000, France.; Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes F-44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes F-44000, France.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes F-44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes F-44000, France.; Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes F-44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes F-44000, France.; Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes F-44000, France.

Publisher: Elsevier B.V. on behalf of KeAi Communications Co. Ltd Country of Publication: Netherlands NLM ID: 101635967 Publication Model: eCollection Cited Medium: Internet ISSN: 2352-3042 (Electronic) Linking ISSN: 23523042 NLM ISO Abbreviation: Genes Dis Subsets: PubMed not MEDLINE

Caengprasath N; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.; Panchaprateep R; Division of Dermatology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Cogne B; CHU Nantes, Service de Génétique Médicale, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.; Cuinat S; CHU Nantes, Service de Génétique Médicale, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.; Auburt H; CHU Nantes, Service de Dermatologie, Nantes, France.; Jonca N; CHU Toulouse, Hôpital Purpan, Laboratoire de Biologie Cellulaire et Cytologie, Institut Fédératif de Biologie, Toulouse, France; Infinity, University of Toulouse, CNRS, INSERM, Université Paul Sabatier, Toulouse, France.; Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand. Electronic address: thantrira.p@chula.ac.th.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9011485 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-569X (Electronic) Linking ISSN: 09231811 NLM ISO Abbreviation: J Dermatol Sci Subsets: MEDLINE