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Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H; van Gassen, Koen L; van der Smagt, Jasper J; Volker-Touw, Catharina M L; Holwerda, Sjoerd J B; Terhal, Paulien A; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E H; Amsterdam, Karin Huijsdens-van; Verbeek, Nienke E; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G; Sinnema, Margje; De Vries, Bert B A; Gerkes, Erica H; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D; Xu, Zhou L; Murrell, Jill R; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulàlia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stéphane.
Afiliación
  • Cuinat S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France. Electronic address: silvestre.cuinat@chu-nantes.fr.
  • Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.
  • Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.
  • Stegmann A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Gassen KL; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Volker-Touw CML; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Holwerda SJB; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Khalifa M; Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates.
  • Nugud AA; Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates.
  • Yasaei H; Dubai Genetics Center, Pathology and Genetics Department, Dubai Health Authority, Dubai, United Arab Emirates.
  • Ousager LB; Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark.
  • Brasch-Andersen C; Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark.
  • Deb W; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.
  • Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.
  • Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Amsterdam KH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Matalon D; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA.
  • Dykzeul N; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA.
  • White S; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA.
  • Spiteri E; Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA.
  • Devriendt K; Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium.
  • Boogaerts A; Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium.
  • Willemsen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • De Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gerkes EH; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, The Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Izumi K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Krantz ID; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Xu ZL; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Murrell JR; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Valenzuela I; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain.
  • Cusco I; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
  • Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
  • Yang Y; AiLife Diagnostics, Pearland, TX.
  • Bizaoui V; Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de l'Estran, Pontorson, France.
  • Patat O; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.
  • Faivre L; Centre de référence Anomalies du Développement et Syndromes malformatifs, FHU-TRANSLAD, GAD, CHU Dijon et Université de Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.
  • Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.
  • Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.
  • Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.
  • Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France.
  • Bezieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France.
Genet Med ; 24(8): 1774-1780, 2022 08.
Article en En | MEDLINE | ID: mdl-35567594
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al ARN / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas de Unión al ARN / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article