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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica.
Afiliación
  • Li D; Center for Applied Genomics, and.
  • Wang Q; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bayat A; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Battig MR; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Zhou Y; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Bosch DG; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
  • van Haaften G; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
  • Granger L; Center for Applied Genomics, and.
  • Petersen AK; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Pérez-Jurado LA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Aznar-Laín G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Aneja A; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.
  • Hancarova M; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.
  • Bendova S; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.
  • Schwarz M; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.
  • Kremlikova Pourova R; Universitat Pompeu Fabra, Barcelona, Spain.
  • Sedlacek Z; Universitat Pompeu Fabra, Barcelona, Spain.
  • Keena BA; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.
  • March ME; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hou C; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • O'Connor N; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Bhoj EJ; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Harr MH; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Lemire G; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Boycott KM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Towne M; Center for Applied Genomics, and.
  • Li M; Center for Applied Genomics, and.
  • Tarnopolsky M; Center for Applied Genomics, and.
  • Brady L; Center for Applied Genomics, and.
  • Parker MJ; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Faghfoury H; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Parsley LK; Center for Applied Genomics, and.
  • Agolini E; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Dentici ML; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Novelli A; Ambry Genetics, Aliso Viejo, California, USA.
  • Wright M; Invitae, San Francisco, California, USA.
  • Palmquist R; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.
  • Lai K; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.
  • Scala M; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom.
  • Striano P; University Health Network, Toronto, Ontario, Canada.
  • Iacomino M; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA.
  • Zara F; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cooper A; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Maarup TJ; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • Byler M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Lebel RR; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
  • Balci TB; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Louie R; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA.
  • Lyons M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.
  • Douglas J; Pediatric Neurology and Muscular Diseases Unit, and.
J Clin Invest ; 134(1)2024 Jan 02.
Article en En | MEDLINE | ID: mdl-37962958
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalmosomas / Trastornos del Neurodesarrollo Límite: Humans Idioma: En Revista: J Clin Invest Año: 2024 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Empalmosomas / Trastornos del Neurodesarrollo Límite: Humans Idioma: En Revista: J Clin Invest Año: 2024 Tipo del documento: Article