المؤلفون: 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.

مؤلفون مشاركون: FREX Consortium

المصدر: 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.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: DNA Copy Number Variations*, Genetic Testing/*standards , High-Throughput Nucleotide Sequencing/*standards , Exome Sequencing/*standards, Comparative Genomic Hybridization/standards ; Humans ; Multiplex Polymerase Chain Reaction/standards ; Sensitivity and Specificity ; Workflow

المؤلفون: Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Brehin AC; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Department of Foetopathology, CHU Rouen, Rouen, France., Coutant S; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Bazin A; Département de Génétique et de Biologie Spécialisée, Laboratoire Cerba, Saint Ouen l'Aumone, France., Finck W; Unité de Foetopathologie, Laboratoire d'anatomie et cytologie pathologique, CHU Clermont Ferrand, Clermont-Ferrand, France., Benoist G; Service de gynécologie-obstétrique et médecine de la reproduction, Centre Hospitalier Universitaire de Caen, Universite de Caen Normandie, Caen, Basse-Normandie, France., Begorre M; Department of Obstetrics, CHU Côte de Nacre, Caen, France., Beneteau C; Department of Clinical genetics, CHU Hôpital mère et enfant, Nantes, France., Cailliez D; Department of Foetopathology, Hopital Monod, Le Havre, France., Chenal P; Department of Foetopathology, Hopital Monod, Le Havre, France., De Jong M; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Degré S; CPDPN, Hopital Monod, Le Havre, France., Devisme L; Institut de Pathologie, CHU Lille, Lille, France., Francannet C; Centre de référence des anomalies malformatives, Service de génétique médicale, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Centre d'Etude des Malformations Congénitales, CEMC-Auvergne, CHU Clermont-Ferrand, Clermont-Ferrand, France., Gérard B; Department of Genetics, CHU de Strasbourg, Hôpital Civil, Strasbourg, France., Jeanne C; Department of Foetopathology, Centre François Baclesse, CHU Côte de Nacre, Caen, France., Joubert M; Department of Foetopathology, CHU Hôtel Dieu, Nantes, France., Journel H; Department of Clinical ge netics, CH Vannes, Vannes, France., Laurichesse Delmas H; Centre d'Etude des Malformations Congénitales, CEMC-Auvergne, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Unité de Médecine Fœtale, Service de gynécologie-obstétrique, CHU Clermont-Ferrand, Clermont-Ferrand, France., Layet V; Department of Clinical Genetics, Hopital Monod, Le Havre, France., Liquier A; CPDPN, Hôpital Bagatelle, Talence, France., Mangione R; Departement of Radiology, Polyclinique Bordeaux Nord-Aquitaine, Bordeaux, France., Patrier S; Department of Foetopathology, CHU Rouen, Rouen, France., Pelluard F; Service d'Anatomie-Cytologie Pathologique, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; INSERM UMR1053, Bordeaux Research in Translational Oncology, BaRITOn, Université de Bordeaux, Bordeaux, France., Petit F; Clinique de Génétique 'Guy Fontaine'-Centre de référence CLAD, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Tillouche N; Pôle Femme-Mère-Nouveau-né, Centre Hospitalier de Valenciennes, Valenciennes, France., van Ravenswaaij-Arts C; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Frebourg T; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Gruchy N; Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Caen University Hospital, Caen, France., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Gerard M; Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Caen University Hospital, Caen, France.

المصدر: Human mutation [Hum Mutat] 2020 May; Vol. 41 (5), pp. 926-933. Date of Electronic Publication: 2020 Mar 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Exome Sequencing*, Ectromelia/*diagnosis , Ectromelia/*genetics, Adaptor Proteins, Signal Transducing/genetics ; Alleles ; Amino Acid Substitution ; CDX2 Transcription Factor/genetics ; Calcium-Binding Proteins/genetics ; Female ; Genotype ; Humans ; Male ; Pedigree ; Phenotype

المؤلفون: Bruel AL; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France. ange-line.bruel@u-bourgogne.fr.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. ange-line.bruel@u-bourgogne.fr., Vitobello A; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Mau-Them FT; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Nambot S; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Duffourd Y; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Quéré V; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Kuentz P; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France., Garret P; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire CERBA, Saint-Ouen l'Aumône, Dijon, France., Thevenon J; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Moutton S; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Lehalle D; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Jean-Marçais N; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Garde A; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France., Delanne J; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France., Lefebvre M; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Lecoquierre F; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Trost D; Laboratoire CERBA, Saint-Ouen l'Aumône, Dijon, France., Cho M; GeneDx, Gaithersburg, MD, USA., Begtrup A; GeneDx, Gaithersburg, MD, USA., Telegrafi A; GeneDx, Gaithersburg, MD, USA., Vabres P; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de référence maladies rares « maladies dermatologiques en mosaïque », service de dermatologie, CHU Dijon Bourgogne, Dijon, France., Mosca-Boidron AL; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Callier P; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Faivre L; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 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 Bourgogne, Dijon, France.; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de référence maladies rares « déficiences intellectuelles de causes rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.

مؤلفون مشاركون: Orphanomix Physicians’ Group

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Jul; Vol. 21 (7), pp. 1657-1661. Date of Electronic Publication: 2018 Dec 19.

نوع المنشور: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Information Dissemination* , Software* , Exome Sequencing*, Rare Diseases/*genetics, Genetic Testing ; Humans ; Rare Diseases/diagnosis

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Husson, Thomas, Lecoquierre, François, Cassinari, Kevin, Charbonnier, Camille, Quenez, Olivier, Goldenberg, Alice, Guerrot, Anne-Marie, Richard, Anne-Claire, Drouin-Garraud, Valérie, Brehin, Anne-Claire, Soleimani, Maryam, Taton, Romain, Rotharmel, Maud, Rosier, Antoine, Chambon, Pascal, Le Meur, Nathalie, Joly-Helas, Géraldine, Saugier-Veber, Pascale, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Frebourg, Thierry, Nicolas, Gael, Guillin, Olivier, Campion, Dominique

المساهمون: UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire de Psychopathologie et Processus de Santé (LPPS - EA 4057), Université Paris Descartes - Paris 5 (UPD5), Centre de Ressources Autisme de Haute Normandie (CRAHN), Centre de Ressources Autisme de Haute Normandie, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Service de neurologie [Rouen], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), PORCHET, Nathalie

المصدر: Translational Psychiatry
Translational Psychiatry, Nature Pub. Group, 2020, 10 (1), pp.77. ⟨10.1038/s41398-020-0760-7⟩
Translational Psychiatry, Vol 10, Iss 1, Pp 1-8 (2020)
Translational Psychiatry, 2020, 10 (1), pp.77. ⟨10.1038/s41398-020-0760-7⟩

مصطلحات موضوعية: DNA Copy Number Variations, Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], High-Throughput Nucleotide Sequencing, Autism spectrum disorders, Article, lcsh:RC321-571, [SDV] Life Sciences [q-bio], Exome Sequencing, mental disorders, Humans, Genetic Predisposition to Disease, Clinical genetics, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::71881d998c0b0e2aec2258b10162402c
https://hal-normandie-univ.archives-ouvertes.fr/hal-02538173

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
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المؤلفون: Bruel, Ange-Line, Vitobello, Antonio, Mau-Them, Frédéric Tran, Nambot, Sophie, Duffourd, Yannis, Quéré, Virginie, Kuentz, Paul, Garret, Philippine, Thevenon, Julien, Moutton, Sébastien, Lehalle, Daphne, Jean-Marçais, Nolwenn, Orphanomix Physicians’ Group,, Garde, Aurore, Delanne, Julian, Lefebvre, Mathilde, Lecoquierre, François, Trost, Detlef, Cho, Megan, Begtrup, Amber, Telegrafi, Aida, Vabres, Pierre, Mosca-Boidron, Anne-Laure, Callier, Patrick, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel

المساهمون: Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FHU TRANSLAD (CHU de Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Université Bourgogne Franche-Comté [COMUE] (UBFC), Laboratoire CERBA, GeneDx [Gaithersburg, MD, USA], Service de Dermatologie (CHU de Dijon)

المصدر: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0383-z⟩

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Computational biology, Disease, 030105 genetics & heredity, Biology, 03 medical and health sciences, Rare Diseases, Exome Sequencing, Intellectual disability, medicine, Humans, data-sharing, Genetic Testing, Gene, Genetics (clinical), Exome sequencing, Disease gene, Information Dissemination, GeneMatcher, medicine.disease, Disease gene identification, 3. Good health, Data sharing, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, NGS, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236d86a00dccffde363b1001de2ae77f
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01978260