Zobrazeno 1 - 10
of 3 664
pro vyhledávání: '"Mignot C"'
Autor:
van der Sluijs, P.J., Gösgens, M., Dingemans, A.J.M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S.A., Alders, M., Alkuraya, F.S., Alorainy, I., Alsaif, H.S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B.W., Brunet, T., Brunner, H., Carriero, M.L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R.K., Eichler, E.E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A.M., Hashem, M.O., Heide, S., Heron, D., Hickey, S.E., Hopman, S.M.J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J.S., Kurtz-Nelson, E.C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G.S., Loberti, L., Magoulas, P.L., Mari, F., Maystadt, I., Merla, G., Milunsky, J.M., Moortgat, S., Nicolas, G., Leary, M.O.’, Odent, S., Ozmore, J.R., Parbhoo, K., Pfundt, R., Piccione, M., Pinto, A.M., Popp, B., Putoux, A., Rehm, H.L., Reis, A., Renieri, A., Rosenfeld, J.A., Rossi, M., Salzano, E., Saugier-Veber, P., Seri, M., Severi, G., Sonmez, F.M., Strobl-Wildemann, G., Stuurman, K.E., Uctepe, E., Van Esch, H., Vitetta, G., de Vries, B.B.A., Wahl, D., Wang, T., Zacher, P., Heitink, K.R., Ropers, F.G., Steenbeek, D., Rybak, T., Santen, G.W.E.
Publikováno v:
In Genetics in Medicine Open July 2024
Autor:
Weise S; Smell & Taste Clinic, Department of Otorhinolaryngology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Hanslik P; Smell & Taste Clinic, Department of Otorhinolaryngology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Mignot C; Smell & Taste Clinic, Department of Otorhinolaryngology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Glushkov E; Microsystem Laboratory 4 (LMIS4), School of Engineering, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Bertsch A; Microsystem Laboratory 4 (LMIS4), School of Engineering, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Dubreuil R; Aryballes Technologies, Grenoble, France., Bensafi M; Lyon Neuroscience Research Center, CNRS UMR5292-INSERM U1028-University Claude Bernard Lyon 1, Bron, France., Fuessel S; Department of Urology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Hummel T; Smell & Taste Clinic, Department of Otorhinolaryngology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Publikováno v:
PloS one [PLoS One] 2024 Aug 06; Vol. 19 (8), pp. e0304874. Date of Electronic Publication: 2024 Aug 06 (Print Publication: 2024).
Autor:
Huang Y; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Jay KL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston TX 77030., Huang AY; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Wan J; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston TX 77030., Chorin O; Institute for Rare Diseases, Sheba Medical Center, Tel HaShomer, Ramat Gan, Israel., Rothschild A; Institute for Rare Diseases, Sheba Medical Center, Tel HaShomer, Ramat Gan, Israel., Barel O; Genomics Unit, The Center for Cancer Research, Sheba Medical Center, Tel Hashomer, Israel; Sheba Medical Center, Wohl Institute of Translational Medicine, Ramat Gan, Israel., Mariani M; Pediatric Department, ASST Lariana, Santa Anna General Hospital, Italy., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Xue H; Shanghai Institute of Precision Medicine at Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Huang J; Shanghai Institute of Precision Medicine at Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Mignot C; AP-HP Sorbonne Université, Département de Génétique, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, France., Keren B; Genetic Department, GCS SeqOIA, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Saillour V; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France., Mah-Som AY; Harvard Medical School Genetics Training Program, Boston, USA., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, USA., Rajabi F; Section of Clinical Genetics and Metabolism, Department of Pediatrics, Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, USA., Costin C; Division of Medical Genetics, Akron Children's Hospital, Akron, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston TX 77030., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston TX 77030., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston TX 77030., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Laboratories, Houston, USA., Palmer CGS; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, USA., Nelson SF; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston TX 77030. Electronic address: Michael.Wangler@bcm.edu., Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, USA. Electronic address: Julianmartinez@mednet.ucla.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul 18, pp. 101218. Date of Electronic Publication: 2024 Jul 18.
Autor:
Massier M; Department of Genetics, Reims University Hospital, Reims, France., Doco-Fenzy M; Department of Genetics, Reims University Hospital, Reims, France.; Department of Genetics, Nantes University Hospital, Nantes, France., Egloff M; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, INSERM, LNEC, Department of Genetics, Poitiers University Hospital, Poitiers, France., Le Guillou X; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, CNRS, LMA, Department of Genetics, Poitiers University Hospital, Poitiers, France., Le Guyader G; Department of Genetics, Poitiers University Hospital, Poitiers, France., Redon S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Benech C; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Le Millier K; Department of Genetics, Brest University Hospital, Brest, France., Uguen K; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Ropars J; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Sacaze E; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Audebert-Bellanger S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Apetrei A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Molin A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Gruchy N; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Vincent-Devulder A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Spodenkiewicz M; Department of Genetics, Le Reunion University Hospital, St-Pierre, France., Jacquin C; Department of Genetics, Reims University Hospital, Reims, France., Loron G; Department of Neonatal Medicine and Pediatric Intensive Care, University of Reims Champagne-Ardenne, CReSTIC, Reims University Hospital, Reims, France., Thibaud M; Department of Pediatrics, American Memorial Hospital, Reims, France., Delplancq G; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France., Brisset S; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Malan V; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Romana S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Marlin S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Amiel J; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Marquet V; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France., Dauriat B; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France., Moradkhani K; Department of Genetics, Nantes University Hospital, Nantes, France., Mercier S; Department of Genetics, Nantes University Hospital, Nantes, France., Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France., Arpin S; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Pujalte M; Department of Genetics, Hospices Civils de Lyon, Lyon, France., Jedraszak G; Constitutional Genetic Laboratory, University Hospital of Amiens & UR4666 HEMATIM, University of Picardie Jules Verne, Amiens, France., Pebrel-Richard C; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Salaun G; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Laffargue F; Department of Medical Genetics, UIC ADDIR (GRIUC ADERGEN), Constitutive Reference Center CLAD South-East: Developmental anomalies and malformative syndromes, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Boudjarane J; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Missirian C; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Chelloug N; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Toutain A; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Chiesa J; Department of Genetics, Nimes, University Hospital, Nimes University Hospital, Nimes, France., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France., Gouy E; Department of Genetics, Hospices Civils de Lyon, Lyon, France., Jaillard S; Department of Cytogenetics and Cell Biology, Rennes university hospital, Rennes, France., Landais E; Department of Genetics, Reims University Hospital, Reims, France., Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63531. Date of Electronic Publication: 2024 Feb 29.
Autor:
Gerasimenko A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Mignot C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Naggara O; Université Paris Cité, INSERM UMR 1266 IMA-BRAIN, GHU Paris, Service de Neuroradiologie, Paris, France.; APHP.Université Paris Cité, Institut Imagine, INSERM U1000, Hôpital Necker - Enfants Malades, Service de Radiologie Pédiatrique UMR 1163, Paris, France.; APHP.Université Paris Cité, Centre Français pour les AVC Pédiatriques, INSERM U894, Paris, France., Coulet F; Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Paris, France.; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Ekram S; Department of Medical Genetics, College of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia., Heide S; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Sorato C; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Mazowiecki M; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Perrin L; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France., Colas C; Université Paris Sciences Lettres, Institut Curie, Service de Génétique, Paris, France., Cusin V; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Caux F; GH Paris Seine-Saint-Denis, INSERM UMR1125, Service de Dermatologie, Bobigny, France., Dardenne A; APHP.Sorbonne Université, Hôpital Saint-Antoine, Oncologie Gigestive, Paris, France., El Chehadeh S; Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Institut de Génétique Médicale d'Alsace (IGMA), Service de Génétique Médicale, Strasbourg, France., Verloes A; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France.; INSERM U1141, Hôpital Robert-Debré, Paris, France., Maurey H; Hôpitaux Universitaires Paris Saclay, Hôpital Bicêtre, Centre National de Référence pour les Maladies Rares du Cerveau et de la Moelle Épinière, Service de Neurologie Pédiatrique, Le Kremlin Bicêtre, France., Afenjar A; Groupe d'Étude Interdisciplinaire pour les Malformations Vasculaires, Hôpitaux Lariboisière, Bichat, Saint-Joseph, Clinique Alma, Paris, France., Petit F; APHP.Sorbonne Université, GH Trousseau, Département de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Barete S; Université de Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique, Guy Fontaine, Lille, France., Boespflug-Tanguy O; APHP.Sorbonne Université, GH Pitié-Salpêtrière, Service de Dermatologie, Paris, France.; APHP.Université Paris Cité, Hôpital Robert Debré, Service de Neuropédiatrie, Paris, France., Bourrat E; Université Paris Cité, NeuroDiderot, UMR 1141, Paris, France., Capri Y; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France., Ciorna V; Hôpital-Saint Louis, CRMR MAGEC Nord St Louis, Service de Dermatologie, Paris, France., Deb W; CHR Metz-Thionville, Service de Génétique, Metz, France., Doummar D; CHU Nantes, Service de Génétique Médicale, Nantes, France., Perrier A; Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Paris, France.; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Guédon A; APHP.Sorbonne Université, CHU Armand Trousseau, Service de Neuropédiatrie-Pathologie du développement, Centre de Référence Maladies Rares Neurogénétiques, Paris, France., Houdart E; APHP.Sorbonne Université, CHU Armand Trousseau, Service de Neuropédiatrie-Pathologie du développement, Centre de Référence Maladies Rares Neurogénétiques, Paris, France., Isidor B; CHR Metz-Thionville, Service de Génétique, Metz, France., Jacquemont ML; APHP.Université Paris Cité, Service de Neuroradiologie Diagnostique et Interventionnelle, CHU Lariboisière, Paris, France., Buffet C; Service de Génétique Médicale, CHU Ste-Justine, Montréal, Canada., Mercier S; CHR Metz-Thionville, Service de Génétique, Metz, France., Passemard S; APHP.Sorbonne Université, Service de pathologies Thyroïdiennes et Tumorales Endocrines, Hôpital La Pitié-Salpêtrière, Paris, France., Riquet A; APHP.Université Paris Cité, Inserm UMR 1141, NeuroDiderotFrance, Hôpital Robert Debré, Service de Neurologie Pédiatrique, DMU INOV-RDB, Paris, France., Ruaud L; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France.; INSERM U1141, Hôpital Robert-Debré, Paris, France., Schaefer E; Département de Neurologie Pédiatrique, GHICL, Hôpital Saint Vincent de Paul, Lille, France., Heron D; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Bisdorff A; APHP.Sorbonne Université, CHU Armand Trousseau, Service de Neuropédiatrie-Pathologie du développement, Centre de Référence Maladies Rares Neurogénétiques, Paris, France.; CHU de Strasbourg, Service de Génétique Médicale, IGMA, Strasbourg, France., Benusiglio PR; Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Paris, France.; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 90-94. Date of Electronic Publication: 2024 Feb 29.
Autor:
Thomas H; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France.; Service de Génétique Clinique, CHRU de Nancy, Nancy, France., Alix T; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France.; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France., Renard É; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France.; Endocrinologie pédiatrique, CHRU de Nancy, Vandœuvre-lès-Nancy, France., Renaud M; Service de Génétique Clinique, CHRU de Nancy, Nancy, France.; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France.; Service de Neurologie, CHRU de Nancy, Nancy, France., Wourms J; Service de Génétique Clinique, CHRU de Nancy, Nancy, France., Zuily S; Médecine Vasculaire, CHRU de Nancy, Vandœuvre-lès-Nancy, France.; UMR_S 916 DCAC, INSERM, Vandœuvre-lès-Nancy, France., Leheup B; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France., Geneviève D; Centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Medicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.; Inserm U1183, Université Montpellier 1, Faculté de Médecine Montpellier-Nîmes, Montpellier, France., Dreumont N; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France., Schmitt E; Neuroradiologie, CHRU de Nancy, Vandœuvre-lès-Nancy, France., Bronner M; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France., Muller M; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France., Divoux M; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France.; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France., Wandzel M; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France., Ravel JM; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France.; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France., Dexheimer M; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France., Becker A; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France., Roth V; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France., Willems M; Centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Medicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Coubes C; Centre de référence anomalies du développement et syndromes malformatifs, Département de Génétique Medicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France., Vieville G; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble Alpes, Grenoble, France., Devillard F; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble Alpes, Grenoble, France., Schaefer É; Service de Génétique médicale, Institut de Génétique Médicale d'Alsace, CHU de Strasbourg, Strasbourg, France., Baer S; Service de Génétique médicale, Institut de Génétique Médicale d'Alsace, CHU de Strasbourg, Strasbourg, France., Piton A; Service de Génétique médicale, Institut de Génétique Médicale d'Alsace, CHU de Strasbourg, Strasbourg, France., Gérard B; Service de Génétique médicale, Institut de Génétique Médicale d'Alsace, CHU de Strasbourg, Strasbourg, France., Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; CNRS, INSERM, Institut du thorax, Nantes Université, Nantes, France., Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; CNRS, INSERM, Institut du thorax, Nantes Université, Nantes, France., Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; CNRS, INSERM, Institut du thorax, Nantes Université, Nantes, France., Ruaud L; Département de Génétique, Hôpital Robert Debré, APHP Nord, Paris, France., Couque N; Département de Génétique, Hôpital Robert Debré, APHP Nord, Paris, France., Putoux A; Service de Génétique, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.; CNRS UMR5310, INSERM U1217, Institut NeuroMyoGene PNMG, Université Claude Bernard Lyon 1, Lyon, France., Edery P; Service de Génétique, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.; CNRS UMR5310, INSERM U1217, Institut NeuroMyoGene PNMG, Université Claude Bernard Lyon 1, Lyon, France., Lesca G; Service de Génétique, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.; CNRS UMR5310, INSERM U1217, Institut NeuroMyoGene PNMG, Université Claude Bernard Lyon 1, Lyon, France., Chatron N; Service de Génétique, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.; CNRS UMR5310, INSERM U1217, Institut NeuroMyoGene PNMG, Université Claude Bernard Lyon 1, Lyon, France., Till M; Service de Génétique, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.; CNRS UMR5310, INSERM U1217, Institut NeuroMyoGene PNMG, Université Claude Bernard Lyon 1, Lyon, France., Faivre L; Centre de référence anomalies du développement et syndromes malformatifs et Centre de référence Déficiences Intellectuelles de causes rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm, Université Bourgogne Franche-Comté, 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 Bourgogne, Dijon, France., Alessandri JL; Service de génétique médicale, CHU de La Réunion, Hôpital Félix Guyon, Bellepierre, Saint-Denis, Réunion., Lebrun M; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France., Quélin C; Département de génétique moléculaire et génomique, CHU Rennes, Rennes, France., Odent S; Département de génétique moléculaire et génomique, CHU Rennes, Rennes, France., Dubourg C; Département de génétique moléculaire et génomique, CHU Rennes, Rennes, France., David V; Département de génétique moléculaire et génomique, CHU Rennes, Rennes, France., Faoucher M; Département de génétique moléculaire et génomique, CHU Rennes, Rennes, France., Mignot C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Keren B; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Pisan É; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Afenjar A; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP Sorbonne Université, Paris, France., Julia S; Département de Génétique médicale, CHU Toulouse, Toulouse, France., Bieth É; Département de Génétique médicale, CHU Toulouse, Toulouse, France., Banneau G; Département de Génétique médicale, CHU Toulouse, Toulouse, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, CHU de Rouen, Rouen, France.; Inserm U1245, Université de Rouen Normandie, Rouen, France., Husson T; Inserm U1245, Université de Rouen Normandie, Rouen, France.; Department of Psychiatry, CHU de Rouen, Rouen, France.; Department of Research, Centre hospitalier du Rouvray, Sotteville-Lès-Rouen, France., Campion D; Inserm U1245, Université de Rouen Normandie, Rouen, France.; Department of Psychiatry, CHU de Rouen, Rouen, France.; Department of Research, Centre hospitalier du Rouvray, Sotteville-Lès-Rouen, France., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, CHU de Rouen, Rouen, France.; Inserm U1245, Université de Rouen Normandie, Rouen, France., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, CHU de Rouen, Rouen, France.; Inserm U1245, Université de Rouen Normandie, Rouen, France., Charbonnier C; Inserm U1245, Université de Rouen Normandie, Rouen, France.; Department of Biotatistics, CHU de Rouen, Rouen, France., De Saint Martin A; Centre de Référence des épilepsies Rares, Hopitaux universitaires de Strasbourg, Strasbourg, France., Naudion S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Groupe hospitalier Pellegrin, Bordeaux, France., Degoutin M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Groupe hospitalier Pellegrin, Bordeaux, France., Rondeau S; Centre de référence des maladies osseuses constitutionnelles, Necker-Enfants Malades Hospitals, Paris, France.; INSERM UMR 1163, Imagine Institute, Paris, France., Michot C; Centre de référence des maladies osseuses constitutionnelles, Necker-Enfants Malades Hospitals, Paris, France.; INSERM UMR 1163, Imagine Institute, Paris, France., Cormier-Daire V; Centre de référence des maladies osseuses constitutionnelles, Necker-Enfants Malades Hospitals, Paris, France.; INSERM UMR 1163, Imagine Institute, Paris, France., Oussalah A; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France.; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, and Nutrition, CHRU de Nancy, Nancy, France., Pourié C; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France., Lambert L; Service de Génétique Clinique, CHRU de Nancy, Nancy, France.; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France., Bonnet C; Laboratoire de Génétique, CHRU de Nancy, Vandœuvre-lès-Nancy, France ce.bonnet@chru-nancy.fr.; INSERM NGERE U1256, Université de Lorraine, Vandœuvre-lès-Nancy, France.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Jun 27. Date of Electronic Publication: 2024 Jun 27.
Autor:
Duy PQ; Department of Neurosurgery, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA.; Department of Neuroscience, University of Virginia School of Medicine, Charlottesville, VA, 22908, USA., Jux B; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LiMES), University of Bonn, Bonn, 53012, Germany., Zhao S; Department of Genetics, School of Medicine, Washington University, St. Louis, MO, 63110, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Mekbib KY; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA., Dennis E; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Dong W; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, 10065, USA., Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT, 06510, USA., Mehta NH; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Shohfi JP; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Juusola J; GeneDx, Gaithersburg, MD, 20877, USA., Allington G; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Smith H; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, 06510, USA.; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA., Marlin S; Laboratory of Embryology and Genetics of Human Malformation, Imagine Institute, Paris Descartes, Sorbonne Paris Cité University, Paris, 75013, France., Belhous K; Department of Radiology, Necker Children Hospital, Assistance Publique-Hôpitaux de Paris, University Paris 5, Paris, 75004, France., Monteleone B; Division of Clinical Genetics, NYU Langone Health, Long Island, Mineola, NY, 11501, USA., Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 77205, USA., Pisarska MD; Department of Obstretrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA., Vásquez J; Division of Clinical Genetics, NYU Langone Health, Long Island, Mineola, NY, 11501, USA., Estrada-Veras JI; Department of Surgery, Henry M Jackson Foundation for the Advancement of Military Medicine and Uniformed Services University of the Health Sciences, Bethesda, MD, 20817, USA.; Pediatric Subspecialty Genetics Walter Reed National Military Medical Center, Bethesda, MD, 20889, USA., Keren B; Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, 75013, France., Mignot C; Department of Genetics, APHP, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière University Hospital, Paris, 75013, France., Flore LA; Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI, and Central Michigan University College of Medicine, Mount Pleasant, MI, 48858, USA., Palafoll IV; Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, 38700, France., Alper SL; Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, MA, 02115 USA.; Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, 10065, USA., Haider S; School of Pharmacy, University College London, London, WC1E 6BT, UK., Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, ON, K7L 3N6, Canada., Jin SC; Department of Genetics, School of Medicine, Washington University, St. Louis, MO, 63110, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 063110, USA., Kolanus W; Molecular Immunology and Cell Biology, Life & Medical Sciences Institute (LiMES), University of Bonn, Bonn, 53012, Germany., Kahle KT; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.; Broad Institute of Harvard and MIT, Cambridge, MA, 02142, USA.; Division of Genetics and Genomics, Manton Center for Orphan Disease research, Department of pediatrics, and Howard Hughes Medical institute, Boston Children's Hospital, Boston, MA, 02115, USA.; Harvard Center for Hydrocephalus and Neurodevelopmental Disorders, Massachusetts General Hospital, Boston, MA, 02114, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jun 04. Date of Electronic Publication: 2024 Jun 04.
Autor:
Schmetz A; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany. ariane.schmetz@hhu.de., Lüdecke HJ; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany., Surowy H; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany., Sivalingam S; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany., Bruel AL; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France., Caumes R; CHU Lille, Clinique de Génétique, 59000, Lille, France., Charles P; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France., Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Codina-Solà M; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., Colson C; CHU Lille, Clinique de Génétique, 59000, Lille, France., Cuscó I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., Denommé-Pichon AS; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France., Edery P; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France., Faivre L; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD et Institut GIMI, Dijon Bourgogne University Hospital, 21000, Dijon, France., Green A; Department of Clinical Genetics, Children's Health Ireland at Crumlin, and University College Dublin School of Medicine and Medical Science, Dublin, Ireland., Heide S; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Kleinendorst L; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lasa-Aranzasti A; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS UMR 5261-INSERM U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France., López-González V; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain., Maraval J; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon Bourgogne University Hospital, 21000, Dijon, France., Mignot C; Assistance Publique-Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Neuhann T; Medizinisch Genetisches Zentrum, Munich, Germany., Netzer C; Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Oehl-Jaschkowitz B; BIOSCIENTIA MVZ Labor Saar, Praxis Für Humangenetik, Homburg Saar, Germany., Petit F; CHU Lille, Clinique de Génétique, 59000, Lille, France., Philippe C; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France.; Laboratory of Human Genetics, CHR Metz Thionville, Hôpital Mercy, Metz, France., Posmyk R; Department of Clinical Genetics, Medical University in Bialystok, Bialystok, Poland., Putoux A; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Lyon, France., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), 91054, Erlangen, Germany., Sánchez-Soler MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain., Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074, Aachen, Germany.; Centre for Rare Diseases Aachen (ZSEA), 52076, Aachen, Germany., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia., Tran Mau Them F; Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, France.; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, 21000, Dijon, France., Travessa A; Medical Genetics Department, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal., Trujillano L; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, 08035, Barcelona, Spain., van Haelst MM; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), 91054, Erlangen, Germany., Vincent-Delorme C; CHU Lille, Clinique de Génétique, 59000, Lille, France., Walther M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany., Verde P; Coordination Centre for Clinical Trials, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany., Bramswig NC; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany.; Center for Rare Diseases, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225, Düsseldorf, Germany.
Publikováno v:
Human genetics [Hum Genet] 2024 Jan; Vol. 143 (1), pp. 71-84. Date of Electronic Publication: 2023 Dec 20.
Autor:
Ferretti A; Pediatrics Unit, Faculty of Medicine and Psychology, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Sapienza University of Rome, Rome, Italy; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Furlan M; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy., Glinton KE; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Amplexa Genetics A/S, Odense, Denmark., Boschann F; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany; Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany., Amlie-Wolf L; Division of Medical Genetics, Nemours Children's Health, Wilmington, Delaware., Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Moretti R; APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Stoltenburg C; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Sozialpädiatrisches Zentrum Neuropädiatrie, Berlin, Germany., Tarquinio DC; Rett Syndrome Clinic, Center for Rare Neurological Diseases, Norcross, Georgia., Furia F; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Parisi P; Pediatrics Unit, Faculty of Medicine and Psychology, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Sapienza University of Rome, Rome, Italy., Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Member of ERN EpiCARE., Devinsky O; NYU Langone Epilepsy Center, Department of Neurology, NYU Grossman School of Medicine, New York City, New York., Mignot C; APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Gripp KW; Division of Medical Genetics, Nemours Children's Health, Wilmington, Delaware., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE., Yang Y; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas; AiLife Diagnostics, Pearland, Texas., Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas., Gardella E; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE. Electronic address: elga@filadelfia.dk.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Sep; Vol. 158, pp. 17-25. Date of Electronic Publication: 2024 Jun 11.
Autor:
Viora-Dupont E; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France. eleonore.viora-dupont@chu-dijon.fr.; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France. eleonore.viora-dupont@chu-dijon.fr., Robert F; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; Clinical Psychology Lab., Psychopathology, Psychoanalysis (EA4056, ED 261), University of Paris, Sorbonne Paris City, Paris, France., Chassagne A; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; Laboratory of Sociology and Anthropology (LaSA, EA3189), University of Burgundy-Franche-Comté, Besançon, France., Pélissier A; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; Laboratory of economy (LEDi), University of Burgundy, Dijon, France., Staraci S; Genetics Department, Reference Center for Hereditary Cardiac Disorders, GH APHP, Paris, France., Sanlaville D; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; Univ Lyon, Univ Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, 69008, Lyon, France., Edery P; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, University of Claude Bernard Lyon 1, Bron, France., Lesca G; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; Univ Lyon, Univ Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, 69008, Lyon, France., Putoux A; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, University of Claude Bernard Lyon 1, Bron, France., Pons L; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Cadenes A; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Baurand A; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Sawka C; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Bertolone G; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Spetchian M; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Yousfi M; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Salvi D; Laboratory of economy (LEDi), University of Burgundy, Dijon, France., Gautier E; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Vitobello A; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Denommé-Pichon AS; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Bruel AL; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Tran Mau-Them F; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Faudet A; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Keren B; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Labalme A; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Chatron N; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; Univ Lyon, Univ Lyon 1, CNRS, INSERM, Physiopathologie et Génétique du Neurone et du Muscle, UMR5261, U1315, Institut NeuroMyoGène, 69008, Lyon, France., Abel C; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Dupuis-Girod S; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France., Poisson A; Reference Center for Rare Disorders with psychiatric expression C.H. Le Vinatier, Bron, France.; Equipe de recherche AESIO santé, unité de Sant Etienne, Clinique médico chirurgicale mutualiste, Saint Etienne, France., Buratti J; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Mignot C; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Afenjar A; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Whalen S; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Charles P; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Heide S; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Mouthon L; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Moutton S; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Sorlin A; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Nambot S; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France., Briffaut AS; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France., Asensio ML; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France., Philippe C; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France., Thauvin-Robinet C; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; Genetics Department, Reference Center for Intellectual Disabilities, University Hospital, Dijon, France., Héron D; Genetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France., Rossi M; Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.; INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, University of Claude Bernard Lyon 1, Bron, France., Meunier-Bellard N; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France., Gargiulo M; Clinical Psychology Lab., Psychopathology, Psychoanalysis (EA4056, ED 261), University of Paris, Sorbonne Paris City, Paris, France.; Institute of myology, GH APHP, Paris, France., Peyron C; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; Laboratory of economy (LEDi), University of Burgundy, Dijon, France., Binquet C; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.; CHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France., Faivre L; FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France. laurence.faivre@chu-dijon.fr.; Genetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France. laurence.faivre@chu-dijon.fr.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 May 27. Date of Electronic Publication: 2024 May 27.