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Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Kuroda, Yukiko; Iwata-Otsubo, Aiko; Dias, Kerith-Rae; Temple, Suzanna E L; Nagao, Koji; De Hayr, Lachlan; Zhu, Ying; Isobe, Shin-Ya; Nishibuchi, Gohei; Fiordaliso, Sarah K; Fujita, Yuki; Rippert, Alyssa L; Baker, Samuel W; Leung, Marco L; Koboldt, Daniel C; Harman, Adele; Keena, Beth A; Kazama, Izumi; Subramanian, Gopinath Musuwadi; Manickam, Kandamurugu; Schmalz, Betsy; Latsko, Maeson; Zackai, Elaine H; Edwards, Matt; Evans, Carey-Anne; Dulik, Matthew C; Buckley, Michael F; Yamashita, Toshihide; O'Brien, W Timothy; Harvey, Robert J; Obuse, Chikashi; Roscioli, Tony; Izumi, Kosuke.
Afiliación
  • Kuroda Y; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Iwata-Otsubo A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Dias KR; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, University of New South Wales, Kensington, NSW, Australia.
  • Temple SEL; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
  • Nagao K; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan.
  • De Hayr L; School of Health, University of the Sunshine Coast, Maroochydore, QLD, Australia; Sunshine Coast Health Institute, Birtinya, QLD, Australia.
  • Zhu Y; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Isobe SY; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan.
  • Nishibuchi G; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan.
  • Fiordaliso SK; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Fujita Y; Department of Molecular Neuroscience, Graduate School of Medicine, Osaka University, Suita, Japan.
  • Rippert AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Baker SW; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Leung ML; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH.
  • Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.
  • Harman A; Transgenic core, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Keena BA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Kazama I; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Subramanian GM; Paediatric Neurology Unit, John Hunter Children's Hospital, New Lambton Heights, NSW, Australia.
  • Manickam K; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Schmalz B; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Latsko M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.
  • Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
  • Edwards M; Hunter Genetics, Newcastle, NSW, Australia; University of Western Sydney School of Medicine, Sydney, NSW, Australia.
  • Evans CA; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, University of New South Wales, Kensington, NSW, Australia.
  • Dulik MC; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
  • Buckley MF; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia.
  • Yamashita T; Department of Molecular Neuroscience, Graduate School of Medicine, Osaka University, Suita, Japan.
  • O'Brien WT; Institute for Translational Medicine and Therapeutics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
  • Harvey RJ; School of Health, University of the Sunshine Coast, Maroochydore, QLD, Australia; Sunshine Coast Health Institute, Birtinya, QLD, Australia.
  • Obuse C; Department of Biological Sciences, Graduate School of Science, Osaka University, Toyonaka, Japan.
  • Roscioli T; Randwick Genomics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Sydney, NSW, Australia; Neuroscience Research Australia (NeuRA) and Prince of Wales Clinical School, University of New South Wales, Kensington, NSW, Australia.
  • Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Roberts Individualized Medical Genetics Center, The Children's Hospital of Phila
Genet Med ; 25(7): 100861, 2023 Jul.
Article en En | MEDLINE | ID: mdl-37087635
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Heterocromatina / Homólogo de la Proteína Chromobox 5 Tipo de estudio: Prognostic_studies Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Heterocromatina / Homólogo de la Proteína Chromobox 5 Tipo de estudio: Prognostic_studies Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article