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Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

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Title: Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Authors: Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Brehin AC; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Department of Foetopathology, CHU Rouen, Rouen, France., Coutant S; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Bazin A; Département de Génétique et de Biologie Spécialisée, Laboratoire Cerba, Saint Ouen l'Aumone, France., Finck W; Unité de Foetopathologie, Laboratoire d'anatomie et cytologie pathologique, CHU Clermont Ferrand, Clermont-Ferrand, France., Benoist G; Service de gynécologie-obstétrique et médecine de la reproduction, Centre Hospitalier Universitaire de Caen, Universite de Caen Normandie, Caen, Basse-Normandie, France., Begorre M; Department of Obstetrics, CHU Côte de Nacre, Caen, France., Beneteau C; Department of Clinical genetics, CHU Hôpital mère et enfant, Nantes, France., Cailliez D; Department of Foetopathology, Hopital Monod, Le Havre, France., Chenal P; Department of Foetopathology, Hopital Monod, Le Havre, France., De Jong M; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Degré S; CPDPN, Hopital Monod, Le Havre, France., Devisme L; Institut de Pathologie, CHU Lille, Lille, France., Francannet C; Centre de référence des anomalies malformatives, Service de génétique médicale, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Centre d'Etude des Malformations Congénitales, CEMC-Auvergne, CHU Clermont-Ferrand, Clermont-Ferrand, France., Gérard B; Department of Genetics, CHU de Strasbourg, Hôpital Civil, Strasbourg, France., Jeanne C; Department of Foetopathology, Centre François Baclesse, CHU Côte de Nacre, Caen, France., Joubert M; Department of Foetopathology, CHU Hôtel Dieu, Nantes, France., Journel H; Department of Clinical ge netics, CH Vannes, Vannes, France., Laurichesse Delmas H; Centre d'Etude des Malformations Congénitales, CEMC-Auvergne, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Unité de Médecine Fœtale, Service de gynécologie-obstétrique, CHU Clermont-Ferrand, Clermont-Ferrand, France., Layet V; Department of Clinical Genetics, Hopital Monod, Le Havre, France., Liquier A; CPDPN, Hôpital Bagatelle, Talence, France., Mangione R; Departement of Radiology, Polyclinique Bordeaux Nord-Aquitaine, Bordeaux, France., Patrier S; Department of Foetopathology, CHU Rouen, Rouen, France., Pelluard F; Service d'Anatomie-Cytologie Pathologique, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; INSERM UMR1053, Bordeaux Research in Translational Oncology, BaRITOn, Université de Bordeaux, Bordeaux, France., Petit F; Clinique de Génétique 'Guy Fontaine'-Centre de référence CLAD, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Tillouche N; Pôle Femme-Mère-Nouveau-né, Centre Hospitalier de Valenciennes, Valenciennes, France., van Ravenswaaij-Arts C; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands., Frebourg T; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Gruchy N; Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Caen University Hospital, Caen, France., Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Gerard M; Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Caen University Hospital, Caen, France.
Source: Human mutation [Hum Mutat] 2020 May; Vol. 41 (5), pp. 926-933. Date of Electronic Publication: 2020 Mar 01.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
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  Data: <searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Brehin+AC%22">Brehin AC</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Department of Foetopathology, CHU Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Coutant+S%22">Coutant S</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Coursimault+J%22">Coursimault J</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Bazin+A%22">Bazin A</searchLink>; Département de Génétique et de Biologie Spécialisée, Laboratoire Cerba, Saint Ouen l'Aumone, France.<br /><searchLink fieldCode="AU" term="%22Finck+W%22">Finck W</searchLink>; Unité de Foetopathologie, Laboratoire d'anatomie et cytologie pathologique, CHU Clermont Ferrand, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Benoist+G%22">Benoist G</searchLink>; Service de gynécologie-obstétrique et médecine de la reproduction, Centre Hospitalier Universitaire de Caen, Universite de Caen Normandie, Caen, Basse-Normandie, France.<br /><searchLink fieldCode="AU" term="%22Begorre+M%22">Begorre M</searchLink>; Department of Obstetrics, CHU Côte de Nacre, Caen, France.<br /><searchLink fieldCode="AU" term="%22Beneteau+C%22">Beneteau C</searchLink>; Department of Clinical genetics, CHU Hôpital mère et enfant, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cailliez+D%22">Cailliez D</searchLink>; Department of Foetopathology, Hopital Monod, Le Havre, France.<br /><searchLink fieldCode="AU" term="%22Chenal+P%22">Chenal P</searchLink>; Department of Foetopathology, Hopital Monod, Le Havre, France.<br /><searchLink fieldCode="AU" term="%22De+Jong+M%22">De Jong M</searchLink>; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Degré+S%22">Degré S</searchLink>; CPDPN, Hopital Monod, Le Havre, France.<br /><searchLink fieldCode="AU" term="%22Devisme+L%22">Devisme L</searchLink>; Institut de Pathologie, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Francannet+C%22">Francannet C</searchLink>; Centre de référence des anomalies malformatives, Service de génétique médicale, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Centre d'Etude des Malformations Congénitales, CEMC-Auvergne, CHU Clermont-Ferrand, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Gérard+B%22">Gérard B</searchLink>; Department of Genetics, CHU de Strasbourg, Hôpital Civil, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Jeanne+C%22">Jeanne C</searchLink>; Department of Foetopathology, Centre François Baclesse, CHU Côte de Nacre, Caen, France.<br /><searchLink fieldCode="AU" term="%22Joubert+M%22">Joubert M</searchLink>; Department of Foetopathology, CHU Hôtel Dieu, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Journel+H%22">Journel H</searchLink>; Department of Clinical ge netics, CH Vannes, Vannes, France.<br /><searchLink fieldCode="AU" term="%22Laurichesse+Delmas+H%22">Laurichesse Delmas H</searchLink>; Centre d'Etude des Malformations Congénitales, CEMC-Auvergne, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Unité de Médecine Fœtale, Service de gynécologie-obstétrique, CHU Clermont-Ferrand, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Layet+V%22">Layet V</searchLink>; Department of Clinical Genetics, Hopital Monod, Le Havre, France.<br /><searchLink fieldCode="AU" term="%22Liquier+A%22">Liquier A</searchLink>; CPDPN, Hôpital Bagatelle, Talence, France.<br /><searchLink fieldCode="AU" term="%22Mangione+R%22">Mangione R</searchLink>; Departement of Radiology, Polyclinique Bordeaux Nord-Aquitaine, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Patrier+S%22">Patrier S</searchLink>; Department of Foetopathology, CHU Rouen, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Pelluard+F%22">Pelluard F</searchLink>; Service d'Anatomie-Cytologie Pathologique, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; INSERM UMR1053, Bordeaux Research in Translational Oncology, BaRITOn, Université de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Petit+F%22">Petit F</searchLink>; Clinique de Génétique 'Guy Fontaine'-Centre de référence CLAD, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Tillouche+N%22">Tillouche N</searchLink>; Pôle Femme-Mère-Nouveau-né, Centre Hospitalier de Valenciennes, Valenciennes, France.<br /><searchLink fieldCode="AU" term="%22van+Ravenswaaij-Arts+C%22">van Ravenswaaij-Arts C</searchLink>; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Frebourg+T%22">Frebourg T</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Gruchy+N%22">Gruchy N</searchLink>; Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Caen University Hospital, Caen, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Gerard+M%22">Gerard M</searchLink>; Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Caen University Hospital, Caen, France.
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