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Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.
Bryen, Samantha J; Joshi, Himanshu; Evesson, Frances J; Girard, Cyrille; Ghaoui, Roula; Waddell, Leigh B; Testa, Alison C; Cummings, Beryl; Arbuckle, Susan; Graf, Nicole; Webster, Richard; MacArthur, Daniel G; Laing, Nigel G; Davis, Mark R; Lührmann, Reinhard; Cooper, Sandra T.
Affiliation
  • Bryen SJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.
  • Joshi H; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Evesson FJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; The Children's Medical Research Institute, 214 Hawkesbury Road, Sydney, NSW
  • Girard C; Max-Planck-Institute for Biophysical Chemistry, Department of Cellular Biochemistry, Am Fassberg 11, 37077 Göttingen, Germany.
  • Ghaoui R; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; Royal Adelaide Hospital, Department of Neurology, Adelaide, SA 5000, Austral
  • Waddell LB; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.
  • Testa AC; Centre for Medical Research, The University of Western Australia, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
  • Cummings B; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Medical and Population Genetics, Broad Institute of Massachusetts Institute
  • Arbuckle S; Department of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia.
  • Graf N; Department of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia.
  • Webster R; Neurogenetics Clinic, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia.
  • MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Center for Mendelian Genomics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Medical and Population Genetics, Broad Institute of Massachusetts Institute
  • Laing NG; Centre for Medical Research, The University of Western Australia, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
  • Davis MR; Neurogenetic Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA 6009, Australia.
  • Lührmann R; Max-Planck-Institute for Biophysical Chemistry, Department of Cellular Biochemistry, Am Fassberg 11, 37077 Göttingen, Germany.
  • Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; The Children's Medical Research Institute, 214 Hawkesbury Road, Sydney, NSW
Am J Hum Genet ; 105(3): 573-587, 2019 09 05.
Article in En | MEDLINE | ID: mdl-31447096
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Full text: 1 Database: MEDLINE Main subject: Introns / RNA Splicing / Spliceosomes Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Infant / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2019 Type: Article Affiliation country: Australia
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Full text: 1 Database: MEDLINE Main subject: Introns / RNA Splicing / Spliceosomes Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Infant / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2019 Type: Article Affiliation country: Australia