Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Autor: Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk., Beecroft SJ; Pawsey Supercomputing Research Centre, Kensington, WA, Australia., Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Cabrera-Serrano M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Sevilla, 41013, Spain., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Chintalaphani SR; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Gamaarachchi H; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Folland C; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Monahan G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia., Dofash L; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Johari M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., Tankard R; Department of Mathematics and Statistics, Curtin University, Perth, WA, Australia., Read J; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Merve A; Department of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Vegezzi E; IRCCS Mondino Foundation, Pavia, Italy., Schnekenberg RP; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Fernandez-Eulate G; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Masingue M; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Giovannini D; CHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble Alpes, Grenoble, France., Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Storey E; Neurology Department, The Alfred Hospital, Melbourne, VIC, Australia., Gardner M; The Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand., Amor DJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Nicholson G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Vucic S; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Brain and Nerve Research Centre, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Henderson RD; Department of Neurology, Royal Brisbane & Women's Hospital, Herston, QLD, Australia.; UQ Centre for Clinical Research, Herston, QLD, Australia., Robertson T; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD, Australia., Dyke J; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA, Australia., Fabian V; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia., Mastaglia F; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia., Davis MR; Neurogenetics Unit, Diagnostic Genomics, PathWest, Nedlands, WA, Australia., Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Quinlivan R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, United Kingdom., Hammans S; Wessex Neurological Centre, University Hospital Southampton, Southampton, United Kingdom., Tucci A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., McLean CA; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia., Laing NG; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Lamont PJ; Neurogenetics Unit, Royal Perth Hospital, Perth, WA, Australia., Fahey MC; Department of Paediatrics Monash Children's Hospital, Victoria, Australia., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 17; Vol. 15 (1), pp. 8955. Date of Electronic Publication: 2024 Oct 17.

Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.

Autor: Henden L; Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC, Australia., Southwood D; Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Smith A; Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Rowe DB; Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Kiernan MC; Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.; Department of Neurology, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Pamphlett R; Brain and Mind Centre, The University of Sydney, Sydney, NSW, Australia.; Discipline of Pathology, The University of Sydney, Sydney, NSW, Australia, and.; Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, NSW, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC, Australia., Blair IP; Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia., Williams KL; Macquarie University Motor Neuron Disease Research Centre, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW, 2109, Australia.

Publikováno v: Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2024 Aug; Vol. 25 (5-6), pp. 644-647. Date of Electronic Publication: 2024 May 10.

UKB.COVID19: an R package for UK Biobank COVID-19 data processing and analysis.

Autor: Wang L; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia.; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia., Jackson VE; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia.; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia., Fearnley LG; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia.; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia., Bahlo M; Department of Medical Biology, The University of Melbourne, Parkville, VIC, 3010, Australia.; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.

Publikováno v: F1000Research [F1000Res] 2024 Jul 26; Vol. 10, pp. 830. Date of Electronic Publication: 2024 Jul 26 (Print Publication: 2021).

Synthetic Epigenetic Reprogramming of Mesenchymal to Epithelial States Using the CRISPR/dCas9 Platform in Triple Negative Breast Cancer.

Autor: Waryah C; Cancer Epigenetics Group, Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia.; Centre for Medical Research, University of Western Australia, Perth, WA, 6009, Australia., Cursons J; Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, 3800, Australia.; Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC, 3800, Australia., Foroutan M; Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC, 3800, Australia.; Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC, 3800, Australia., Pflueger C; Australian Research Council Centre of Excellence in Plant Energy Biology, School of Molecular Sciences, University of Western Australia, Perth, WA, 6009, Australia.; Harry Perkins Institute of Medical Research, QEII Medical Centre and Centre for Medical Research, The University of Western Australia, 6 Verdun St, Perth, WA, 6009, Australia., Wang E; Cancer Epigenetics Group, Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia.; Centre for Medical Research, University of Western Australia, Perth, WA, 6009, Australia., Molania R; Population Health and Immunity Division, Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, VIC, 3010, Australia., Woodward E; Cancer Epigenetics Group, Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia., Sorolla A; Cancer Epigenetics Group, Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia.; Centre for Medical Research, University of Western Australia, Perth, WA, 6009, Australia., Wallis C; Cancer Epigenetics Group, Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia.; Centre for Medical Research, University of Western Australia, Perth, WA, 6009, Australia., Moses C; Cancer Epigenetics Group, Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia.; Evolutionary Neurogenomics, Swammerdam Institute for Life Sciences, University of Amsterdam, Amsterdam, XH 1098, The Netherlands., Glas I; Cancer Epigenetics Group, Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia., Magalhães L; Cancer Epigenetics Group, Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia.; Postgraduate Program of Genetics and Molecular Biology, Institute of Biological Sciences, Federal University of Pará, Belém, 66075-110, Brazil., Thompson EW; School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, 4000, Australia.; Translational Research Institute, Brisbane, QLD, 4102, Australia., Fearnley LG; Population Health and Immunity Division, Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3800, Australia., Chaffer CL; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.; St Vincent's Clinical School, UNSW Medicine, Darlinghurst, NSW, 2010, Australia., Davis M; Population Health and Immunity Division, Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, VIC, 3010, Australia., Papenfuss AT; Population Health and Immunity Division, Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC, 3800, Australia., Redfern A; School of Medicine, University of Western Australia, Perth, WA, 6009, Australia., Lister R; Australian Research Council Centre of Excellence in Plant Energy Biology, School of Molecular Sciences, University of Western Australia, Perth, WA, 6009, Australia.; Harry Perkins Institute of Medical Research, QEII Medical Centre and Centre for Medical Research, The University of Western Australia, 6 Verdun St, Perth, WA, 6009, Australia., Esteller M; Josep Carreras Leukemia Research Institute (IJC), Badalona, Barcelona, 08916, Spain.; Centro de Investigacion Biomedica en Red Cancer (CIBERONC), Madrid, 28029, Spain.; Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Catalonia, 08010, Spain.; Physiological Sciences Department, School of Medicine and Health Sciences, University of Barcelona (UB), Barcelona, Catalonia, 08007, Spain., Blancafort P; Cancer Epigenetics Group, Harry Perkins Institute of Medical Research, Perth, WA, 6009, Australia.; Centre for Medical Research, University of Western Australia, Perth, WA, 6009, Australia.

Publikováno v: Advanced science (Weinheim, Baden-Wurttemberg, Germany) [Adv Sci (Weinh)] 2023 Aug; Vol. 10 (22), pp. e2301802. Date of Electronic Publication: 2023 May 22.

Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.

Autor: Henden L; Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia., Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC 3052, Australia., Grima N; Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia., McCann EP; Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia., Dobson-Stone C; Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2006, Australia., Fitzpatrick L; Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia., Friend K; SA Pathology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia., Hobson L; SA Pathology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia., Chan Moi Fat S; Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia., Rowe DB; Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia.; Department of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Macquarie Park, NSW 2109, Australia., D'Silva S; Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia.; Department of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Macquarie Park, NSW 2109, Australia., Kwok JB; Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2006, Australia., Halliday GM; Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW 2006, Australia., Kiernan MC; Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia.; Department of Neurology, Royal Prince Alfred Hospital, Sydney, NSW 2050, Australia., Mazumder S; Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia., Timmins HC; Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia., Zoing M; Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia., Pamphlett R; Brain and Mind Centre, The University of Sydney, Sydney, NSW 2050, Australia.; Discipline of Pathology, The University of Sydney, Sydney, NSW 2050, Australia.; Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, NSW 2050, Australia., Adams L; Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, VIC 3052, Australia., Blair IP; Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia., Williams KL; Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, NSW 2109, Australia.

Publikováno v: Science advances [Sci Adv] 2023 May 05; Vol. 9 (18), pp. eade2044. Date of Electronic Publication: 2023 May 05.