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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

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Title: Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Authors: Depienne C; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France. depiennc@igbmc.fr.; Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France. depiennc@igbmc.fr.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France. depiennc@igbmc.fr.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. depiennc@igbmc.fr.; EuroEPINOMICS RES consortium, . depiennc@igbmc.fr., Nava C; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.; EuroEPINOMICS RES consortium., Keren B; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France., Heide S; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France., Rastetter A; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France., Passemard S; AP-HP, Department of Child Neurology, Hôpital Robert Debré, Paris, France.; AP-HP, Department of Genetics, Hôpital Robert Debré, Paris, France.; INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France., Chantot-Bastaraud S; AP-HP, Département de Génétique Médicale, Unité fonctionnelle de Génétique Chromosomique, CHU Paris Est, Hôpital d'Enfants Armand-Trousseau, 75571, Paris, France., Moutard ML; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France.; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.; Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adolescent, Paris, France., Agrawal PB; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., VanNoy G; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Stoler JM; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Amor DJ; Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia., Billette de Villemeur T; INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France.; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.; Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France., Doummar D; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France.; Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adolescent, Paris, France., Alby C; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.; AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France., Cormier-Daire V; INSERM U1163, Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.; AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France., Garel C; AP-HP, GHUEP, Service de Radiologie, Hôpital Armand-Trousseau, 75012, Paris, France., Marzin P; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France., Scheidecker S; Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France., de Saint-Martin A; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France.; Pediatric Neurology Department, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France., Hirsch E; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France.; Medical and Surgical Epilepsy Unit, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France., Korff C; Département de l'Enfant et de l'Adolescent, Neuropédiatrie, Hôpitaux Universitaires de Genève, Geneva, Switzerland., Bottani A; Service de Médecine génétique, Hôpitaux Universitaires de Genève, Geneva, Switzerland., Faivre L; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079, Dijon, France., Verloes A; AP-HP, Department of Genetics, Hôpital Robert Debré, Paris, France., Orzechowski C; Service de Pédiatrie, Hôpital Saint-Camille Bry-sur-Marne, Le Chesnay, France., Burglen L; INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.; AP-HP, Service de Génétique, Hôpital Trousseau, 75012, Paris, France.; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, 75012, Paris, France., Leheup B; Service de génétique clinique, Hôpital de Brabois, CHU de Nancy, Nancy, France., Roume J; Department of Genetics, Poissy-Saint-Germain-en-Laye Hospital, Poissy, France., Andrieux J; Institut de Génétique Médicale, CHRU de Lille, Lille, France., Sheth F; Department of Cytogenetics and Molecular Cytogenetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India., Datar C; Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005, India., Parker MJ; Sheffield Clinical Genetics Service, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Pasquier L; Service de Génétique Clinique, CHU de Rennes, Rennes, France., Odent S; Service de Génétique Clinique, CHU de Rennes, Rennes, France.; Centre de référence CLAD-Ouest, CHU Rennes, Rennes, France.; UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes, Université de Rennes 1, Rennes, France., Naudion S; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France., Delrue MA; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; Centre de Référence des Anomalies du Développement Embryonnaire, CHU Bordeaux, Bordeaux, France., Le Caignec C; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France., Vincent M; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France., Renaldo F; AP-HP, Department of Child Neurology, Hôpital Robert Debré, Paris, France.; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France., Stewart F; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Ireland., Toutain A; Service de Génétique Médicale, CHU Tours, Tours, France., Koehler U; Medizinisch Genetisches Zentrum, 80335, Munich, Germany., Häckl B; Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany., von Stülpnagel C; Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany., Kluger G; Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany.; PMU Salzburg, Salzburg, Austria., Møller RS; The Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; EuroEPINOMICS RES consortium., Pal D; Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, UK.; EuroEPINOMICS RES consortium., Jonson T; Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden., Soller M; Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands., van Haelst MM; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands., de Kovel C; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands., Koeleman B; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.; EuroEPINOMICS RES consortium., Monroe G; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands., Attié-Bitach T; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.; AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France., Boutaud L; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.; AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France., Héron D; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.; Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France., Mignot C; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. cyril.mignot@aphp.fr.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France. cyril.mignot@aphp.fr.; Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France. cyril.mignot@aphp.fr.; EuroEPINOMICS RES consortium, . cyril.mignot@aphp.fr.
Corporate Authors: DDD Study
Source: Human genetics [Hum Genet] 2017 Apr; Vol. 136 (4), pp. 463-479. Date of Electronic Publication: 2017 Mar 10.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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Items – Name: Title
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  Data: Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Depienne+C%22">Depienne C</searchLink>; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France. depiennc@igbmc.fr.; Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France. depiennc@igbmc.fr.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France. depiennc@igbmc.fr.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. depiennc@igbmc.fr.; EuroEPINOMICS RES consortium, . depiennc@igbmc.fr.<br /><searchLink fieldCode="AU" term="%22Nava+C%22">Nava C</searchLink>; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.; EuroEPINOMICS RES consortium.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Heide+S%22">Heide S</searchLink>; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rastetter+A%22">Rastetter A</searchLink>; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Passemard+S%22">Passemard S</searchLink>; AP-HP, Department of Child Neurology, Hôpital Robert Debré, Paris, France.; AP-HP, Department of Genetics, Hôpital Robert Debré, Paris, France.; INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Chantot-Bastaraud+S%22">Chantot-Bastaraud S</searchLink>; AP-HP, Département de Génétique Médicale, Unité fonctionnelle de Génétique Chromosomique, CHU Paris Est, Hôpital d'Enfants Armand-Trousseau, 75571, Paris, France.<br /><searchLink fieldCode="AU" term="%22Moutard+ML%22">Moutard ML</searchLink>; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France.; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.; Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adolescent, Paris, France.<br /><searchLink fieldCode="AU" term="%22Agrawal+PB%22">Agrawal PB</searchLink>; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.<br /><searchLink fieldCode="AU" term="%22VanNoy+G%22">VanNoy G</searchLink>; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.<br /><searchLink fieldCode="AU" term="%22Stoler+JM%22">Stoler JM</searchLink>; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Billette+de+Villemeur+T%22">Billette de Villemeur T</searchLink>; INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France.; UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.; Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France.<br /><searchLink fieldCode="AU" term="%22Doummar+D%22">Doummar D</searchLink>; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France.; Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adolescent, Paris, France.<br /><searchLink fieldCode="AU" term="%22Alby+C%22">Alby C</searchLink>; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.; AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cormier-Daire+V%22">Cormier-Daire V</searchLink>; INSERM U1163, Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.; AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Garel+C%22">Garel C</searchLink>; AP-HP, GHUEP, Service de Radiologie, Hôpital Armand-Trousseau, 75012, Paris, France.<br /><searchLink fieldCode="AU" term="%22Marzin+P%22">Marzin P</searchLink>; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.<br /><searchLink fieldCode="AU" term="%22Scheidecker+S%22">Scheidecker S</searchLink>; Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22de+Saint-Martin+A%22">de Saint-Martin A</searchLink>; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France.; Pediatric Neurology Department, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Hirsch+E%22">Hirsch E</searchLink>; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France.; Medical and Surgical Epilepsy Unit, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Korff+C%22">Korff C</searchLink>; Département de l'Enfant et de l'Adolescent, Neuropédiatrie, Hôpitaux Universitaires de Genève, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Bottani+A%22">Bottani A</searchLink>; Service de Médecine génétique, Hôpitaux Universitaires de Genève, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Verloes+A%22">Verloes A</searchLink>; AP-HP, Department of Genetics, Hôpital Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Orzechowski+C%22">Orzechowski C</searchLink>; Service de Pédiatrie, Hôpital Saint-Camille Bry-sur-Marne, Le Chesnay, France.<br /><searchLink fieldCode="AU" term="%22Burglen+L%22">Burglen L</searchLink>; INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.; AP-HP, Service de Génétique, Hôpital Trousseau, 75012, Paris, France.; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, 75012, Paris, France.<br /><searchLink fieldCode="AU" term="%22Leheup+B%22">Leheup B</searchLink>; Service de génétique clinique, Hôpital de Brabois, CHU de Nancy, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Roume+J%22">Roume J</searchLink>; Department of Genetics, Poissy-Saint-Germain-en-Laye Hospital, Poissy, France.<br /><searchLink fieldCode="AU" term="%22Andrieux+J%22">Andrieux J</searchLink>; Institut de Génétique Médicale, CHRU de Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Sheth+F%22">Sheth F</searchLink>; Department of Cytogenetics and Molecular Cytogenetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.<br /><searchLink fieldCode="AU" term="%22Datar+C%22">Datar C</searchLink>; Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005, India.<br /><searchLink fieldCode="AU" term="%22Parker+MJ%22">Parker MJ</searchLink>; Sheffield Clinical Genetics Service, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK.<br /><searchLink fieldCode="AU" term="%22Pasquier+L%22">Pasquier L</searchLink>; Service de Génétique Clinique, CHU de Rennes, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Odent+S%22">Odent S</searchLink>; Service de Génétique Clinique, CHU de Rennes, Rennes, France.; Centre de référence CLAD-Ouest, CHU Rennes, Rennes, France.; UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes, Université de Rennes 1, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Naudion+S%22">Naudion S</searchLink>; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Delrue+MA%22">Delrue MA</searchLink>; Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.; Centre de Référence des Anomalies du Développement Embryonnaire, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Le+Caignec+C%22">Le Caignec C</searchLink>; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Vincent+M%22">Vincent M</searchLink>; Service de Génétique Médicale, CHU de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Renaldo+F%22">Renaldo F</searchLink>; AP-HP, Department of Child Neurology, Hôpital Robert Debré, Paris, France.; AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stewart+F%22">Stewart F</searchLink>; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Ireland.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Service de Génétique Médicale, CHU Tours, Tours, France.<br /><searchLink fieldCode="AU" term="%22Koehler+U%22">Koehler U</searchLink>; Medizinisch Genetisches Zentrum, 80335, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Häckl+B%22">Häckl B</searchLink>; Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany.<br /><searchLink fieldCode="AU" term="%22von+Stülpnagel+C%22">von Stülpnagel C</searchLink>; Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany.<br /><searchLink fieldCode="AU" term="%22Kluger+G%22">Kluger G</searchLink>; Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany.; PMU Salzburg, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; The Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; EuroEPINOMICS RES consortium.<br /><searchLink fieldCode="AU" term="%22Pal+D%22">Pal D</searchLink>; Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, UK.; EuroEPINOMICS RES consortium.<br /><searchLink fieldCode="AU" term="%22Jonson+T%22">Jonson T</searchLink>; Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.<br /><searchLink fieldCode="AU" term="%22Soller+M%22">Soller M</searchLink>; Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden.<br /><searchLink fieldCode="AU" term="%22Verbeek+NE%22">Verbeek NE</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Haelst+MM%22">van Haelst MM</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Kovel+C%22">de Kovel C</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Koeleman+B%22">Koeleman B</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.; EuroEPINOMICS RES consortium.<br /><searchLink fieldCode="AU" term="%22Monroe+G%22">Monroe G</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Haaften+G%22">van Haaften G</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Attié-Bitach+T%22">Attié-Bitach T</searchLink>; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.; AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Boutaud+L%22">Boutaud L</searchLink>; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.; AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France.<br /><searchLink fieldCode="AU" term="%22Héron+D%22">Héron D</searchLink>; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.; Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. cyril.mignot@aphp.fr.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France. cyril.mignot@aphp.fr.; Centre de Référence 'déficiences intellectuelles de causes rares', Paris, France. cyril.mignot@aphp.fr.; EuroEPINOMICS RES consortium, . cyril.mignot@aphp.fr.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2017 Apr; Vol. 136 (4), pp. 463-479. <i>Date of Electronic Publication: </i>2017 Mar 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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              Text: 2017 Apr
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