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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Rafehi, Haloom; Szmulewicz, David J; Bennett, Mark F; Sobreira, Nara L M; Pope, Kate; Smith, Katherine R; Gillies, Greta; Diakumis, Peter; Dolzhenko, Egor; Eberle, Michael A; Barcina, María García; Breen, David P; Chancellor, Andrew M; Cremer, Phillip D; Delatycki, Martin B; Fogel, Brent L; Hackett, Anna; Halmagyi, G Michael; Kapetanovic, Solange; Lang, Anthony; Mossman, Stuart; Mu, Weiyi; Patrikios, Peter; Perlman, Susan L; Rosemergy, Ian; Storey, Elsdon; Watson, Shaun R D; Wilson, Michael A; Zee, David S; Valle, David; Amor, David J; Bahlo, Melanie; Lockhart, Paul J.
Affiliation
  • Rafehi H; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, 1G Royal Parade, Parkville, VIC 3052, Australia.
  • Szmulewicz DJ; Cerebellar Ataxia Clinic, Neuroscience Department, Alfred Health, Melbourne, VIC 3004, Australia; Balance Disorders and Ataxia Service, Royal Victorian Eye & Ear Hospital, East Melbourne, VIC 3002, Australia.
  • Bennett MF; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, 1G Royal Parade, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine
  • Sobreira NLM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Pope K; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia.
  • Smith KR; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3052, Australia.
  • Gillies G; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia.
  • Diakumis P; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, 305 Grattan Street, Melbourne, VIC 3000, Australia.
  • Dolzhenko E; Illumina Inc, 5200 Illumina Way, San Diego, CA 92122, USA.
  • Eberle MA; Illumina Inc, 5200 Illumina Way, San Diego, CA 92122, USA.
  • Barcina MG; Genetic Unit, Basurto University Hospital, OSI Bilbao-Basurto, avenida Montevideo 18, 48013 Bilbao, Spain.
  • Breen DP; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh EH16 4SB, Scotland; Anne Rowling Regenerative Neurology Clinic, University of Edinburgh, Edinburgh EH16 4SB, Scotland; Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh EH16 4UX, Sc
  • Chancellor AM; Department of Neurology, Tauranga Hospital, Private Bag, Cameron Road, Tauranga 3171, New Zealand.
  • Cremer PD; University of Sydney, Camperdown, NSW 2006, Australia; Royal North Shore Hospital, Pacific Hwy, St Leonards, NSW 2065, Australia.
  • Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia.
  • Fogel BL; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
  • Hackett A; Hunter Genetics, Hunter New England Health Service, Waratah, Newcastle, NSW 2300, Australia; University of Newcastle, Newcastle, NSW 2300, Australia.
  • Halmagyi GM; Neurology Department, Royal Prince Alfred Hospital, Camperdown, NSW 2050, Australia; Central Clinical School, University of Sydney, Camperdown, NSW 2050, Australia.
  • Kapetanovic S; Servicio de Neurología, Hospital de Basurto, Avenida de Montevideo 18, 48013 Bilbao, Bizkaia, Spain.
  • Lang A; Edmond J. Safra Program in Parkinson disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, ON M5T 2S8, Canada; Department of Medicine, Division of Neurology, University Health Network and the University of Toronto, Toronto, ON M5T 2S8, Canada.
  • Mossman S; Department of Neurology, Wellington Hospital, Wellington 6021, New Zealand.
  • Mu W; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Patrikios P; Sunshine Neurology, Maroochydore, QLD 4558, Australia.
  • Perlman SL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
  • Rosemergy I; Department of Neurology, Wellington Hospital, Newtown, Wellington 6021, New Zealand.
  • Storey E; Department of Neuroscience, Central Clinical School, Monash University, Alfred Hospital Campus, Commercial Road, Melbourne, VIC 3004, Australia.
  • Watson SRD; Institute of Neurological Sciences, Prince of Wales Hospital, Randwick, NSW 2031, Australia.
  • Wilson MA; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia.
  • Zee DS; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA.
  • Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Amor DJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia.
  • Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, 1G Royal Parade, Parkville, VIC 3052, Australia.
  • Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Flemington Rd, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia. Electronic address: paul.lockhart@mcri.edu.au.
Am J Hum Genet ; 105(1): 151-165, 2019 07 03.
Article in En | MEDLINE | ID: mdl-31230722
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polyneuropathies / Introns / Vestibular Diseases / Cerebellar Ataxia / Sensation Disorders / Microsatellite Repeats / Computational Biology / Replication Protein C Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Polyneuropathies / Introns / Vestibular Diseases / Cerebellar Ataxia / Sensation Disorders / Microsatellite Repeats / Computational Biology / Replication Protein C Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2019 Document type: Article Affiliation country: Country of publication: