부산대학교 도서관

Kubik, S; Marques, AC; Xing, X; Silvery, J; Bertelli, C; De, Maio F; Pournaras, S; Burr, T; Duffourd, Y; Siemens, H

CLINICAL MICROBIOLOGY AND INFECTION. 27(7)

Bourgon N.; Carmignac V.; Sorlin A.; Duffourd Y.; Philippe C.; Thauvin-Robinet C.; Guibaud L.; Faivre L.; Vabres P.; Kuentz P.; Tisserand E.; Chevarin M.; Delanne J.; Jouan T.; Poe C.; Abel C.; Allory P.; Amram D.; Attie-Bitach T.; Aziza J.; Benevent J. -B.; Bidat L.; Bessieres B.; Boussion F.; Cabaret-Dufour A. -S.; Chanoz-Poulard G.; Chassaing N.; Ciorna-Monferrato V.; Cordier A. -G.; Cordier M. -P.; Cuillier F.; Doray B.; Encha-Razavi F.; Eszto M. -L.; Bianco C. F.; Fernandez C.; Ferry M.; Fichez A.; Vequeau V. G.; Grevent D.; Guichet A.; Laurent N.; Le Gac M. -P.; Lefebvre M.; Letard P.; Loget P.; Loisel D.; Martinovich J.; Masutti J. -P.; Millischer A. -E.; Musizzano Y.; Nord J. -F.; Perez M. -J.; Prieur F.; Proisy M.; Quelin C.; Roth P.; Rousseau T.; Salomon L.; Sonigo P.; Spaggiari E.; Stempfle N.; Stirnemann J.; Tanteau J.; Triau S.; Vasiljevic A.; Ville Y.; Zidane-Marinnes M.; Kaltenbach S.; Riviere J. -B.

Ultrasound in Obstetrics & Gynecology. 59:532-542

Genetics in Medicine

Heide, S.; Jacquemont, M. L.; Cheillan, D.; Renouil, M.; Tallot, M.; Schwartz, C. E.; Miquel, J.; Bintner, M.; Rodriguez, D.; Darcel, F.; Buratti, J.; Haye, D.; Passemard, S.; Gras, D.; Perrin, L.; Capri, Y.; Gerard, B.; Piton, A.; Keren, B.; Thauvin-Robinet, C.; Duffourd, Y.; Faivre, L.; Poe, C.; Pervillé, A.; Heron, D.; Thevenon, J.; Arnaud, L.; Leguern, E.; La Selva, L.; Vetro, A.; Guerrini, R.; Nava, C.; Mignot, C.

Genetics in Medicine. 24:492-498

Mania-Pâris L; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Neurologie, Dijon, France (L.M.-P., G.D., Y.B., Q.T.).; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine Moléculaire-Inserm UMR1231 équipe GAD, Dijon, France (A.V., H.S., F.T.M.-T., Y.D., A.-L.B., A.-S.D.-P., L.F., C.T.-R.).; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Génétique Clinique, Dijon, France (A.V., H.S., F.T.M.-T., S.N., A.-L.B., A.-S.D.-P., L.F., C.T.-R., Q.T.).; Safraou H; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine Moléculaire-Inserm UMR1231 équipe GAD, Dijon, France (A.V., H.S., F.T.M.-T., Y.D., A.-L.B., A.-S.D.-P., L.F., C.T.-R.).; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Génétique Clinique, Dijon, France (A.V., H.S., F.T.M.-T., S.N., A.-L.B., A.-S.D.-P., L.F., C.T.-R., Q.T.).; Tran Mau-Them F; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine Moléculaire-Inserm UMR1231 équipe GAD, Dijon, France (A.V., H.S., F.T.M.-T., Y.D., A.-L.B., A.-S.D.-P., L.F., C.T.-R.).; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Génétique Clinique, Dijon, France (A.V., H.S., F.T.M.-T., S.N., A.-L.B., A.-S.D.-P., L.F., C.T.-R., Q.T.).; Duffourd Y; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine Moléculaire-Inserm UMR1231 équipe GAD, Dijon, France (A.V., H.S., F.T.M.-T., Y.D., A.-L.B., A.-S.D.-P., L.F., C.T.-R.).; Nambot S; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Génétique Clinique, Dijon, France (A.V., H.S., F.T.M.-T., S.N., A.-L.B., A.-S.D.-P., L.F., C.T.-R., Q.T.).; Bruel AL; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine Moléculaire-Inserm UMR1231 équipe GAD, Dijon, France (A.V., H.S., F.T.M.-T., Y.D., A.-L.B., A.-S.D.-P., L.F., C.T.-R.).; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Génétique Clinique, Dijon, France (A.V., H.S., F.T.M.-T., S.N., A.-L.B., A.-S.D.-P., L.F., C.T.-R., Q.T.).; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine Moléculaire-Inserm UMR1231 équipe GAD, Dijon, France (A.V., H.S., F.T.M.-T., Y.D., A.-L.B., A.-S.D.-P., L.F., C.T.-R.).; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Génétique Clinique, Dijon, France (A.V., H.S., F.T.M.-T., S.N., A.-L.B., A.-S.D.-P., L.F., C.T.-R., Q.T.).; Duloquin G; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Neurologie, Dijon, France (L.M.-P., G.D., Y.B., Q.T.).; Béjot Y; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Neurologie, Dijon, France (L.M.-P., G.D., Y.B., Q.T.).; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine Moléculaire-Inserm UMR1231 équipe GAD, Dijon, France (A.V., H.S., F.T.M.-T., Y.D., A.-L.B., A.-S.D.-P., L.F., C.T.-R.).; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Génétique Clinique, Dijon, France (A.V., H.S., F.T.M.-T., S.N., A.-L.B., A.-S.D.-P., L.F., C.T.-R., Q.T.).; Thauvin-Robinet C; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine Moléculaire-Inserm UMR1231 équipe GAD, Dijon, France (A.V., H.S., F.T.M.-T., Y.D., A.-L.B., A.-S.D.-P., L.F., C.T.-R.).; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Génétique Clinique, Dijon, France (A.V., H.S., F.T.M.-T., S.N., A.-L.B., A.-S.D.-P., L.F., C.T.-R., Q.T.).; Thomas Q; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Neurologie, Dijon, France (L.M.-P., G.D., Y.B., Q.T.).; Université Bourgogne Europe, CHU Dijon Bourgogne, Service de Génétique Clinique, Dijon, France (A.V., H.S., F.T.M.-T., S.N., A.-L.B., A.-S.D.-P., L.F., C.T.-R., Q.T.).

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0235266 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4628 (Electronic) Linking ISSN: 00392499 NLM ISO Abbreviation: Stroke Subsets: MEDLINE

AL Soilly; C Robert-Viard; C Besse; AL Bruel; B Gerard; A Boland; A Piton; Y Duffourd; J Muller; C Poë; T Jouan; S El Doueiri; L Faivre; D Bacq-Daian; B Isidor; D Genevieve; S Odent; N Philip; M Doco-Fenzy; D Lacombe; ML Asensio; JF Deleuze; C Binquet; DISSEQ Investigators Group; C Thauvin-Robinet; C Lejeune

BMC Health Services Research, Vol 23, Iss 1, Pp 1-11 (2023)

Blay, J. Y.; Duffourd, Y.; Nowak, F.; Thauvin-Robinet, C.; Thevenon, J.; Binquet, C.; Nicolas, G.; Boileau, C.; Bourgeron, T.; Bousquet, P. J.; Clappier, E.; Deleuze, J. F.; Laurent-Puig, P.; Lethimonnier, F.; Lyonnet, S.; Odent, S.; Saintigny, P.; Sigaux, F.; Stoppa-Lyonnet, D.; Sujobert, P.; Vidaud, M.; Vinauger, L.; Vinciguerra, C.; Blanc, P

LANCET REGIONAL HEALTH-EUROPE; MAR 2025, 50 p101183 11p.

Jost C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Busa T; Genetics Department, Timone Enfants University Hospital Center, Public Assistance-Marseille Hospitals, Marseille, France.; Wegner D; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Shinawi M; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Schaefer E; Genetics Department, Public Strasbourg Hospitals, Strasbourg, France.; Piton A; Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.; Schluth-Bolard C; Genetic Diagnosis Laboratory, Strasbourg University Hospital, Strasbourg, France.; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM UMRS_1112, Université de Strasbourg, Centre de Recherche en Biomédecine de Strasbourg, Strasbourg, France.; Charles P; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.; Mayerhanser K; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Brunet T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Schatz U; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Walsh CA; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.; Sisco K; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; J Paul A; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Lee C; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, CA, USA.; Dykzeul N; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, CA, USA.; Bonner D; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, CA, USA.; Bernstein JA; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, CA, USA.; Sutcliffe E; GeneDx, LLC, Gaithersburg, MD, USA.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA.; Froehlich C; Stony Brook Medicine, Lake Grove, NY, USA.; Liebler K; Stony Brook Medicine, Lake Grove, NY, USA.; Galvin Parton P; Stony Brook Medicine, Lake Grove, NY, USA.; Weiss-Burns J; Stony Brook Medicine, Lake Grove, NY, USA.; Sagnol C; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon University Hospital Dijon, Dijon, France.; Delanne J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon University Hospital Dijon, Dijon, France.; Racine C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Thauvin-Robinet C; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Centre de Référence NeuroGène, Dijon University Hospital, Dijon, France.; Safraou H; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale-Centre NEOMICS, Dijon University Hospital, Dijon, France.; Tran Mau-Them F; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale-Centre NEOMICS, Dijon University Hospital, Dijon, France.; Duffourd Y; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale-Centre NEOMICS, Dijon University Hospital, Dijon, France.; Bruel AL; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale-Centre NEOMICS, Dijon University Hospital, Dijon, France.; Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, FHU TRANSLAD, Dijon University Hospital, Dijon, France. laurence.faivre@chu-dijon.fr.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon University Hospital Dijon, Dijon, France. laurence.faivre@chu-dijon.fr.; INSERM-University of Burgundy-UMR1231 GAD, Dijon, France. laurence.faivre@chu-dijon.fr.; Centre de Référence GenoPsy, CHU Dijon Bourgogne, Dijon, France. laurence.faivre@chu-dijon.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

Borel F; Department of Neurology, Dijon Burgundy University Hospital, Dijon, F-21000, France.; Thauvin C; Genetics Center, FHU-TRANSLAD and GIMI Institute, Dijon Burgundy University Hospital, Dijon, F-21000, France.; Inserm UMR1231 team GAD, University of Burgundy Europe, Dijon, F-21000, France.; Schiff M; Université Paris Cité, Institut Imagine, Genetics of mitochondrial diseases, INSERM UMR 1163, Paris, France.; Service et Centre de référence des maladies héréditaires du métabolisme, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.; Centre de Référence des Maladies Mitochondriales CARAMMEL, AP-HP, Hôpital Necker-Enfants Malades and Imagine Institute, Paris, France.; Duffourd Y; Inserm UMR1231 team GAD, University of Burgundy Europe, Dijon, F-21000, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Burgundy University Hospital, Dijon, F-21000, France.; Tran Mau Them F; Inserm UMR1231 team GAD, University of Burgundy Europe, Dijon, F-21000, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Burgundy University Hospital, Dijon, F-21000, France.; Philippe C; Inserm UMR1231 team GAD, University of Burgundy Europe, Dijon, F-21000, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Burgundy University Hospital, Dijon, F-21000, France.; Mochel F; INSERM U 1127, CNRS UMR 7225, Sorbonne Université, UPMC Univ Paris 06, Institut du Cerveau, ICM, Paris, France.; Department of Medical Genetics, Reference Centers for Adult Neurometabolic Diseases and Adult Leukodystrophies, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.; Thomas Q; Department of Neurology, Dijon Burgundy University Hospital, Dijon, F-21000, France. quentin.thomas@chu-dijon.fr.; Genetics Center, FHU-TRANSLAD and GIMI Institute, Dijon Burgundy University Hospital, Dijon, F-21000, France. quentin.thomas@chu-dijon.fr.; Inserm UMR1231 team GAD, University of Burgundy Europe, Dijon, F-21000, France. quentin.thomas@chu-dijon.fr.

Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Malbos M; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. marlene.malbos@chu-dijon.fr.; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France. marlene.malbos@chu-dijon.fr.; Gautier T; Université Grenoble Alpes, Inserm U1209, CNRS UMR5309, Institut pour l'Avancée des Biosciences, Grenoble, France.; Shillington A; Cincinnati Children's Hospital Medical Center Department of Human Genetics, Cincinnati, OH, USA.; Colin E; Service de Génétique Médicale, CHU Angers, Angers, France.; Le Guillou X; Service de Génétique Médicale, CHU de Poitiers, Poitiers, France.; Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Cogné B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Mignot C; Centre de Génétique, CRMR 'Déficiences Intellectuelles de Causes Rares', GH Pitié Salpêtrière et Hôpital Trousseau, AP-HP, Paris, France.; Keren B; Centre de Génétique, CRMR 'Déficiences Intellectuelles de Causes Rares', GH Pitié Salpêtrière et Hôpital Trousseau, AP-HP, Paris, France.; Weber S; Service de Génétique Médicale, CHU Caen Normandie, Caen, France.; Jacquin C; Service de Génétique, CRMR 'Anomalies du Développement et syndromes malformatifs', CHU Reims, Reims, France.; Dudding T; Hunter Genetics, Waratah, NSW, Australia.; Calame D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, USA.; Piard J; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Centre de Génétique Humaine, CHU Besançon, Besançon, France.; Levy J; Centre de Génétique, AP-HP-Hôpital Robert Debré, Université de Paris, Paris, France.; Latypova X; Centre de Génétique, AP-HP-Hôpital Robert Debré, Université de Paris, Paris, France.; Verloes A; Centre de Génétique, AP-HP-Hôpital Robert Debré, Université de Paris, Paris, France.; Niclass T; Centre de génétique, GH Littoral Atlantique, hôpitaux La Rochelle Ré Aunis, La Rochelle, France.; Jacquette A; Centre de Génétique, CHICAM, Alençon, France.; White L; Cincinnati Children's Hospital Medical Center Department of Human Genetics, Cincinnati, OH, USA.; Moizard MP; Service de Génétique, CHU de Tours, Tours, France.; Dollfus H; Inserm UMRS_1112, Institut de Génétique Médicale D'Alsace, Université de Strasbourg, France et CHRU, Strasbourg, France.; Moutton S; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Delanne J; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Racine C; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Thomas Q; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Denommé-Pichon AS; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Laboratoire de génomique médicale, CHU Dijon Bourgogne, Dijon, France.; Tran Mau-Them F; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Laboratoire de génomique médicale, CHU Dijon Bourgogne, Dijon, France.; Bruel AL; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Laboratoire de génomique médicale, CHU Dijon Bourgogne, Dijon, France.; Safraou H; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Laboratoire de génomique médicale, CHU Dijon Bourgogne, Dijon, France.; Philippe C; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Laboratoire de génomique médicale, CHU Dijon Bourgogne, Dijon, France.; Duffourd Y; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Thauvin-Robinet C; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Laboratoire de génomique médicale, CHU Dijon Bourgogne, Dijon, France.; Govin J; Université Grenoble Alpes, Inserm U1209, CNRS UMR5309, Institut pour l'Avancée des Biosciences, Grenoble, France.; Vitobello A; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, France.; Laboratoire de génomique médicale, CHU Dijon Bourgogne, Dijon, France.; Faivre L; Centre de Génétique, CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', 'GenoPsy' et 'Neurogène', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne Europe, FHU Translad, Dijon, 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

Barberet, J; Binquet, C; Guilleman, M; Doukani, Abiba; Choux, C; Bruno, C; Bourredjem, A; Chapusot, C; Bourc’his, D; Duffourd, Y; Fauque, P

Human Reproduction. 36:479-492

El Masri, R.; Iannuzzo, A.; Tacine, R.; Delon, J.; Kuentz, P.; Duffourd, Y.; Faivre, L.; Sorlin, A.; Vabres, P.; Vincent, M.; Barbarot, S.; Morice-Picard, F.; Boralevi, F.; Oillarburu, N.; Mazereeuw-Hautier, J.

In: Nature Communications. (Nature Communications, December 2025, 16(1))

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Ham H; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA.; Jing H; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Lamborn IT; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Kober MM; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Koval A; Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland.; Berchiche YA; Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA.; Anderson DE; Advanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.; Druey KM; Lung and Vascular Inflammation Section, Laboratory of Allergic Diseases, DIR, NIAID, NIH, Bethesda, MD, USA.; Mandl JN; Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France.; Ferreira CR; Skeletal Genomics Unit, Metabolic Medicine Branch, DIR, National Human Genome Research Institute (NHGRI), NIH, Bethesda, MD, USA.; Freeman AF; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA.; Ganesan S; Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA.; Karsak M; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Mustillo PJ; Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University College of Medicine, Columbus, OH, USA.; Teo J; Department of Haematology, The Children's Hospital Westmead, Sydney, New South Wales, Australia.; Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Chatron N; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.; Lecoquierre F; Université de Rouen Normandie, INSERM U12045 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU-G4 Génomique, Rouen, France.; Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.; Schmid JP; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.; Pediatric Immunology, University of Zurich, Zurich, Switzerland.; Kuhns DB; Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.; Xu X; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA.; Hauck F; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität (LMU), Munich, Germany.; Al-Herz W; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait.; Wagner M; Institute of Human Genetics, Technical University Munich, School of Medicine and Health, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Department of Pediatrics, Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University Hospital of Munich, Munich, Germany.; Terhal PA; Division of Laboratories, Pharmacy and Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Muurinen M; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.; Barlogis V; APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.; Aix-Marseille University, EA 3279 Research Unit, Marseille, France.; Cruz P; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.; Danielson J; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals, NHS Foundation Trust, Headington, Oxford, UK.; Loid P; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.; Rading S; Neuronal and Cellular Signal Transduction, Center for Molecular Neurobiology Hamburg (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Keren B; Genetic Departement, Assistance Publique - Hôpitaux de Paris.Sorbonne University, Paris, France.; SeqOIA Laboratory, FMG2025, Paris, France.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Zarember KA; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA.; Vill K; LMU University Hospital, Department of Pediatrics, Division of Pediatric Neurology, iSPZ Hauner MUC - Munich University Center for Children with Medical and Developmental Complexity, Dr. von Hauner Children's Hospital, Munich, Germany.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Olivier KN; Pulmonary Branch, Division of Intramural Research, DIR, National Heart Lung and Blood Institute (NHLBI), NIH, Bethesda, MD, USA.; Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261, INSERM U1315, Université Claude Bernard Lyon 1, Lyon, France.; Faivre L; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Wong M; Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France.; Chou J; Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States.; Tusseau M; Genetics Department, Lyon University Hospital, Lyon, France.; The International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.; Moutsopoulos NM; Oral Immunity and Infection Section, DIR, National Institute of Dental and Craniofacial Research (NIDCR), NIH, Bethesda, MD, USA.; Matthews HF; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.; Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Taft RJ; Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia.; Illumina, San Diego, CA, USA.; Soldatos A; National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD, USA.; Masle-Farquhar E; Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; School of Clinical Medicine, UNSW Sydney, Sydney, NSW, Australia.; Pittaluga S; Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, MD, USA.; Brink R; St. Vincent's Clinical School, UNSW, Sydney, NSW, Australia.; B Cell Biology Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Fink DL; Neutrophil Monitoring Lab, Applied/Developmental Research Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.; Kong HH; Cutaneous Microbiome and Inflammation Section, Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, USA.; Kabat J; Biological Imaging Section, Research Technologies Branch, DIR, NIAID, NIH, Bethesda, MD 20892, USA.; Kim WS; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Meguro K; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Hsu AP; Laboratory of Clinical Immunology and Microbiology, DIR, NIAID, NIH, Bethesda, MD, USA.; Gu J; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.; Stoddard J; Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, USA.; Banos-Pinero B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, Oxfordshire, UK.; Slack M; Division of Allergy and Immunology, Department of Pediatrics, University of Rochester Medical Center and Golisano Children's Hospital, Rochester, NY, USA.; Trivellin G; Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.; Mazel B; Centre de Génétique et Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs de l'Inter-région Est', FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France.; Soomann M; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.; Li S; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology (OCICB), NIAID, NIH, Bethesda, MD, USA.; Watts VJ; Department of Medicinal Chemistry and Molecular Pharmacology, Purdue University, West Lafayette, IN, USA.; Stratakis CA; Section on Endocrinology and Genetics (SEGEN), DIR, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA.; Rodriguez-Quevedo MF; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA.; Bruel AL; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Lipsanen-Nyman M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Saultier P; APHM, La Timone Children's Hospital, Department of Pediatric Hematology, Immunology, and Oncology, Marseille, France.; Aix-Marseille University, INSERM, National Research Institute for Agriculture, Food and Environment (INRAe), Cardiovascular and Nutrition Research Center (C2VN), Marseille, France.; Jain R; Clinical Immunology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Lehalle D; AP-HP Sorbonne Université, UF de Génétique Clinique, Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, Hôpital Trousseau, Paris, France.; Torres D; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Sullivan KE; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Barbarot S; Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes Université, Nantes, France.; Neu A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Duffourd Y; Génétique des Anomalies du Développement (GAD), UMR 1231, INSERM, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Similuk M; Centralized Sequencing Program, DIR, NIAID, NIH, Bethesda, MD, USA.; McWalter K; GeneDx, Gaithersburg, MD, USA.; Blanc P; SeqOIA Laboratory, FMG2025, Paris, France.; Bézieau S; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France.; Jin T; Chemotaxis Signal Section, Laboratory of Immunogenetics, DIR, NIAID, NIH, Rockville, MD, USA.; Geha RS; Division of Immunology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States.; Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, INSERM U1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Makitie OM; Folkhälsan Research Center, Genetics Research Program, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, University of Helsinki, Helsinki, Finland.; Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Edery P; Service de Génétique, Hospices Civils de Lyon, Lyon, France.; Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Specialty of Child and Adolescent Health, University of Sydney, Sydney, Australia.; Germain RN; Lymphocyte Biology Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.; Goodnow CC; Immunogenomics Laboratory, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Cellular Genomics Futures Institute, Sydney, NSW, Australia.; Sakmar TP; Laboratory of Chemical Biology and Signal Transduction, The Rockefeller University, New York, NY, USA.; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, Stockholm, Sweden.; Billadeau DD; Division of Oncology Research, Schulze Center for Novel Therapeutics, Mayo Clinic, Rochester, MN, USA.; Küry S; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; L'Institut du Thorax, CHU Nantes, INSERM UMR 1087/CNRS UMR 6291, Nantes Université, Nantes, France.; Katanaev VL; Department of Cell Physiology and Metabolism, Faculty of Medicine, Translational Research Center in Oncohaematology, University of Geneva, Geneva, Switzerland.; Institute of Life Sciences and Biomedicine, Far Eastern Federal University, Vladivostok, Russia.; Zhang Y; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Lenardo MJ; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, DIR, NIAID, NIH, Bethesda, MD, USA.; Su HC; Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.; Clinical Genomics Program, DIR, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Malbos M; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Vera G; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Sheth H; FRIGE's Institute of Human Genetics, Ahmedabad, India.; Schnur RE; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA.; Juven A; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Brehin AC; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Sheth J; FRIGE's Institute of Human Genetics, Ahmedabad, India.; Gandhi A; FRIGE's Institute of Human Genetics, Ahmedabad, India.; Shapiro FL; Cooper Medical School of Rowan University/Cooper University Health Care, Camden, New Jersey, USA.; Bruel AL; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Marguet F; Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Begtrup A; GeneDx, Gaithersburg, Maryland, USA.; Monaghan KG; GeneDx, Gaithersburg, Maryland, USA.; Safraou H; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Brasseur-Daudruy M; Radiologie pédiatrique, CHU de Rouen, Rouen, France.; Mau-Them FT; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Duffourd Y; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Faivre L; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Thauvin-Robinet C; CRMRs 'Anomalies du Développement et syndromes malformatifs' et 'Déficiences Intellectuelles de causes rares', FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Benke PJ; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Philippe C; Laboratoire de Génomique Médicale, UF Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Inserm UMR1231 GAD, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France.; Laboratoire de Génétique, CHR Metz-Thionville, Hôpital Mercy, Metz, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Wijngaard, R; Demidov, G; O’Gorman, L; Corominas-Galbany, J; Yaldiz, B; Steyaert, W; de Boer, E; Vissers, LELM; Kamsteeg, EJ; Pfundt, R; Swinkels, H; den Ouden, A; te Paske, IBAW; de Voer, RM; Faivre, L; Denommé-Pichon, AS; Duffourd, Y; Vitobello, A; Chevarin, M; Straub, V; Töpf, A; van der Kooi, AJ; Magrinelli, F; Rocca, C; Hanna, MG; Vandrovcova, J; Ossowski, S; Laurie, S; Gilissen, C

European journal of human genetics.

Nambot S; Faivre L; Mirzaa G; Thevenon J; Bruel AL; Mosca-Boidron AL; Masurel-Paulet A; Goldenberg A; Le Meur N; Charollais A; Mignot C; Petit F; Rossi M; Metreau J; Layet V; Amram D; Boute-Bénéjean O; Bhoj E; Cousin MA; Kruisselbrink TM; Lanpher BC; Klee EW; Fiala E; Grange DK; Meschino WS; Hiatt SM; Cooper GM; Olivié H; Smith WE; Dumas M; Lehman A; CAUSES Study; Inglese C; Nizon M; Guerrini R; Vetro A; Kaplan ES; Miramar D; Van Gils J; Fergelot P; Bodamer O; Herkert JC; Pajusalu S; Õunap K; Filiano JJ; Smol T; Piton A; Gérard B; Chantot-Bastaraud S; Bienvenu T; Li D; Juusola J; Devriendt K; Bilan F; Poé C; Chevarin M; Jouan T; Tisserant E; Rivière JB; Tran Mau-Them F; Philippe C; Duffourd Y; Dobyns WB; Hevner R; Thauvin-Robinet C

European Journal of Human Genetics. 28:770-782

Lucain M; Service de Génétique CliniqueCentre de Référence Maladies Rares Neurogénétiques, Inserm, CTMUMR 1231, Équipe GAD, Université Bourgogne Europe, CHU Dijon Bourgogne, FHU-TRANSLAD, 21000, Dijon, France.; Duffourd Y; Service de Génétique CliniqueCentre de Référence Maladies Rares Neurogénétiques, Inserm, CTMUMR 1231, Équipe GAD, Université Bourgogne Europe, CHU Dijon Bourgogne, FHU-TRANSLAD, 21000, Dijon, France.; Malbos M; Service de Génétique CliniqueCentre de Référence Maladies Rares Neurogénétiques, Inserm, CTMUMR 1231, Équipe GAD, Université Bourgogne Europe, CHU Dijon Bourgogne, FHU-TRANSLAD, 21000, Dijon, France.; Vitobello A; Service de Génétique CliniqueCentre de Référence Maladies Rares Neurogénétiques, Inserm, CTMUMR 1231, Équipe GAD, Université Bourgogne Europe, CHU Dijon Bourgogne, FHU-TRANSLAD, 21000, Dijon, France.; Thauvin-Robinet C; Service de Génétique CliniqueCentre de Référence Maladies Rares Neurogénétiques, Inserm, CTMUMR 1231, Équipe GAD, Université Bourgogne Europe, CHU Dijon Bourgogne, FHU-TRANSLAD, 21000, Dijon, France.; Thomas Q; Service de Génétique CliniqueCentre de Référence Maladies Rares Neurogénétiques, Inserm, CTMUMR 1231, Équipe GAD, Université Bourgogne Europe, CHU Dijon Bourgogne, FHU-TRANSLAD, 21000, Dijon, France. quentin.thomas@chu-dijon.fr.; Departments of Clinical Genetics and Neurology, Dijon University Hospital, 2 Boulevard Maréchal de Lattre de Tassigny, 21000, Dijon, France. quentin.thomas@chu-dijon.fr.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Liang, LN; Li, X; Moutton, S; Vergano, SA; Cogne, B; Saint-Martin, D; Hurst, ACE; Hu, YS; Bodamer, O; Thevenon, J; Hung, CY; Isidor, B; Gerard, B; Rega, A; Nambot, S; Lehalle, D; Duffourd, Y; Thauvin-Robinet, C; Faivre, L; Bezieau, S; Dure, LS; Helbling, DC; Bick, D; Xu, CQ; Chen, QY; Verheijen - Mancini, Grazia; Vitobello, A; Wang, QK

Human Molecular Genetics. 28:2937-2951