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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann, Henry; Marcos-Grañeda, Elia; Weiss, Linnea A; Gurnett, Christina A; Jelsig, Anne Marie; Vineke, Susanne H; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T; Race, Simone; Srivastava, Siddharth; Frazier, Zoë; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M; Semina, Elena V; Reuter, Miriam S; Scherer, Stephen W; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B; Pavlidou, Despoina C; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M.
Affiliation
  • Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Henry.oppermann@medizin.uni-leipzig.de.
  • Marcos-Grañeda E; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain.
  • Weiss LA; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain.
  • Gurnett CA; Department of Neurology, Washington University in St Louis, St Louis, MO, USA.
  • Jelsig AM; Dpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.
  • Vineke SH; Dpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark.
  • Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.
  • Mercier S; Service de Génétique Médicale, CHU de Nantes, Nantes, France.
  • Magnussen K; L'institut du thorax, Inserm, Cnrs, Univ Nantes, Nantes, France.
  • Zacher P; Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA.
  • Hashim M; Epilepsy Center Kleinwachau, Radeberg, Germany.
  • Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Race S; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Srivastava S; BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
  • Frazier Z; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Maiwald R; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Pergande M; MVZ for Coagulation Diagnostics and Medical Genetics Cologne, ÜBAG Zotz/Klimas, Cologne, Germany.
  • Milani D; MVZ Düsseldorf Zentrum, ÜBAG Zotz/Klimas, Düsseldorf, Germany.
  • Rinelli M; Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Levy J; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Krey I; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Fontana P; Genetics Department, CHU Robert-Debré, AP-HP, Paris, France.
  • Lonardo F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Riley S; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.
  • Kretzer J; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.
  • Rankin J; Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA.
  • Reis LM; Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA.
  • Semina EV; Department of Clinical Genetics, Royal Devon University Healthcare NHS Trust, Exeter, UK.
  • Reuter MS; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA.
  • Scherer SW; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA.
  • Iascone M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Weis D; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Fagerberg CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
  • Brasch-Andersen C; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Hansen LK; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Kuechler A; Department of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria.
  • Noble N; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Gardham A; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Tenney J; HC Andersen Childrens Hospital, Odense University Hospital, Odense, Denmark.
  • Rathore G; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Beck-Woedl S; Blank Children's Developmental Center, Unity Point Health, Des Moines, IA, USA.
  • Haack TB; North West Thames Regional Genetic Service, North West London Hospitals, London, UK.
  • Pavlidou DC; Division of Medical Genetics, University of California, San Francisco, CA, USA.
  • Atallah I; Dvision of Pediatric Neurology, University of Nebraska Medical Center, Omaha, NE, USA.
  • Vodopiutz J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Janecke AR; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Hsieh TC; Division of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland.
  • Lesmann H; Division of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland.
  • Klinkhammer H; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.
  • Krawitz PM; Vienna Bone and Growth Center, Vienna, Austria.
Eur J Hum Genet ; 31(11): 1251-1260, 2023 11.
Article in En | MEDLINE | ID: mdl-37644171
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability Limits: Adult / Animals / Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Alemania
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability Limits: Adult / Animals / Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Alemania