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Paper Details

Transcriptome and Genome Analysis Uncovers a <i>DMD</i> Structural Variant: A Case Report.
Neurol Genet
1
2023
109 CGG repeats, 270 CGG repeats, 5' UTR, ASD, CGG, DMD, Duchenne muscular dystrophy, ExpansionHunter, NC_000023, aberrantly expressed genes, autism spectrum disorder, dystrophin gene, dystrophinopathy, intellectual development disorder, patient, promoters
Author NameAffiliation
Ben WeisburdUniversity of Western Australia (C.F., Harry Perkins Institute of Medical Research, Australia Center for Mendelian Genomics (V.G., Broad Institute of MIT and Harvard, Brigham and Women's Hospital Division of Genetics and Genomics (V.G., Boston Children's Hospital, Central Clinical School, Monash University, Melbourne Murdoch Children's Research Institute (A.J.K.) Department of Neurology (A.J.K.), Royal Children's Hospital Department of Paediatrics (A.J.K.), University of Melbourne, Australia Center for Genomic Medicine (A.O.-L., Massachusetts General Hospital, Garvan Institute of Medical Research, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Australia School of Clinical Medicine (S.R.C., University of Western Australia
Ben WeisburdUniversity of Western Australia (C.F., Harry Perkins Institute of Medical Research, Australia Center for Mendelian Genomics (V.G., Broad Institute of MIT and Harvard, Brigham and Women's Hospital Division of Genetics and Genomics (V.G., Boston Children's Hospital, Central Clinical School, Monash University, Melbourne Murdoch Children's Research Institute (A.J.K.) Department of Neurology (A.J.K.), Royal Children's Hospital Department of Paediatrics (A.J.K.), University of Melbourne, Australia Center for Genomic Medicine (A.O.-L., Massachusetts General Hospital, Garvan Institute of Medical Research, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Australia School of Clinical Medicine (S.R.C., University of Western Australia
Anne O'Donnell-LuriaUniversity of Western Australia (C.F., Harry Perkins Institute of Medical Research, Australia Center for Mendelian Genomics (V.G., Broad Institute of MIT and Harvard, Brigham and Women's Hospital Division of Genetics and Genomics (V.G., Boston Children's Hospital, Central Clinical School, Monash University, Melbourne Murdoch Children's Research Institute (A.J.K.) Department of Neurology (A.J.K.), Royal Children's Hospital Department of Paediatrics (A.J.K.), University of Melbourne, Australia Center for Genomic Medicine (A.O.-L., Massachusetts General Hospital, Garvan Institute of Medical Research, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Australia School of Clinical Medicine (S.R.C., University of Western Australia
Anne O'Donnell-LuriaUniversity of Western Australia (C.F., Harry Perkins Institute of Medical Research, Australia Center for Mendelian Genomics (V.G., Broad Institute of MIT and Harvard, Brigham and Women's Hospital Division of Genetics and Genomics (V.G., Boston Children's Hospital, Central Clinical School, Monash University, Melbourne Murdoch Children's Research Institute (A.J.K.) Department of Neurology (A.J.K.), Royal Children's Hospital Department of Paediatrics (A.J.K.), University of Melbourne, Australia Center for Genomic Medicine (A.O.-L., Massachusetts General Hospital, Garvan Institute of Medical Research, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Australia School of Clinical Medicine (S.R.C., University of Western Australia
Heidi L RehmUniversity of Western Australia (C.F., Harry Perkins Institute of Medical Research, Australia Center for Mendelian Genomics (V.G., Broad Institute of MIT and Harvard, Brigham and Women's Hospital Division of Genetics and Genomics (V.G., Boston Children's Hospital, Central Clinical School, Monash University, Melbourne Murdoch Children's Research Institute (A.J.K.) Department of Neurology (A.J.K.), Royal Children's Hospital Department of Paediatrics (A.J.K.), University of Melbourne, Australia Center for Genomic Medicine (A.O.-L., Massachusetts General Hospital, Garvan Institute of Medical Research, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Australia School of Clinical Medicine (S.R.C., University of Western Australia
Heidi L RehmUniversity of Western Australia (C.F., Harry Perkins Institute of Medical Research, Australia Center for Mendelian Genomics (V.G., Broad Institute of MIT and Harvard, Brigham and Women's Hospital Division of Genetics and Genomics (V.G., Boston Children's Hospital, Central Clinical School, Monash University, Melbourne Murdoch Children's Research Institute (A.J.K.) Department of Neurology (A.J.K.), Royal Children's Hospital Department of Paediatrics (A.J.K.), University of Melbourne, Australia Center for Genomic Medicine (A.O.-L., Massachusetts General Hospital, Garvan Institute of Medical Research, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Australia School of Clinical Medicine (S.R.C., University of Western Australia
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