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Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

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第一作者: Breana,Galea
第一单位: Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.;Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.
作者单位: Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.;Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia. [1] Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.;Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.;Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia. [2] Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia. [3] Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.;Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia. [4] Department of Neurosurgery, Austin Health, Heidelberg, Victoria, 3084 Australia. [5] Molecular Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia. [6] Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, 02115 United States of America. [7] Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, 02115 United States of America.;Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston, Massachusetts, 02115 United States of America.;Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, 02142 United States of America. [8] TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia. [9] Department of Histopathology, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia. [10] TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.;University of Sydney, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia.;Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales, 2145 Australia. [11] Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia. [12] Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.;Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia. [13] Department of Neurosurgery, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia. [14] Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.;Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.;Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.;Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia. [15] Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia.;Department of Neurology, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia. [16] Department of Anatomical Pathology, The Royal Children's Hospital, Parkville, Victoria 3052, Australia. [17] Anatomical Pathology, Austin Health, Heidelberg, Victoria, 3084 Australia. [18] Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.;Department of Medical Biology, The University of Melbourne, Parkville, Victoria, 3052, Australia. [19] Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia.;Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, 3052, Australia.;Genetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.;Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, 3052, Australia. [20]
DOI 10.1101/2025.11.17.25340194
PMID 41332841
发布时间 2025-12-21
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