Zobrazeno 1 - 10
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pro vyhledávání: '"Deveson, IW"'
Sex determination and differentiation in reptiles are complex. In the model species, Pogona vitticeps, high incubation temperature can cause male to female sex reversal. To elucidate the epigenetic mechanisms of thermolabile sex, we used an unbiased
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::623702ced1ab1707f66367137598c5a1
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.
Autor:
Pellerin D; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK., Méreaux JL; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Boluda S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada., Davoine CS; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Genis D; Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta (ICS) & Hospital Santa Caterina IAS, Institut d'Investigació Biomèdica de Girona (IDIBGI), 17007 Girona, Spain., Spurdens G; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Ashton C; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Department of Neurology, Royal Perth Hospital, Perth, WA 6000, Australia., Hammond JM; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia., Gerhart BJ; Department of Neurology, Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390-8823, USA., Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK.; Neurobiology and Medical Genetics Laboratory, 'Nicolae Testemitanu' State University of Medicine and Pharmacy, MD-2004, Chisinau, Republic of Moldova., Le PU; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada., Safisamghabadi M; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada., Yanick C; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Lee H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK., Nageshwaran SK; Department of Psychiatry, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Department of Neuroscience, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA., Matos-Rodrigues G; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD 20892, USA., Jaunmuktane Z; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London WC1N 3BG, UK.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Petrecca K; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada., Akbarian S; Department of Psychiatry, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Department of Neuroscience, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA.; Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY 10029-5674, USA., Nussenzweig A; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD 20892, USA., Usdin K; Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Renaud M; INSERM-U1256 NGERE, Université de Lorraine, 54500 Nancy, France.; Service de Neurologie, CHRU de Nancy, 54000 Nancy, France.; Service de Génétique Clinique, CHRU de Nancy, 54000 Nancy, France., Bonnet C; INSERM-U1256 NGERE, Université de Lorraine, 54500 Nancy, France.; Laboratoire de Génétique, CHRU de Nancy, 54000 Nancy, France., Ravenscroft G; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia 6009, Australia., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Napierala JS; Department of Neurology, Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390-8823, USA., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.; Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia., Napierala M; Department of Neurology, Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390-8823, USA., Brice A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Molina Porcel L; Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomediques August Pi i Sunyer (FRCB-IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Neurological Tissue Brain Bank, Biobanc-Hospital Clínic-FRCB-IDIBAPS, 08036 Barcelona, Spain., Seilhean D; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Durr A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute- ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, F-75013 Paris, France., Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Oct 08. Date of Electronic Publication: 2024 Oct 08.
Autor:
Rudaks LI; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia. laura.rudaks@gmail.com.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia. laura.rudaks@gmail.com.; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, Australia. laura.rudaks@gmail.com.; Clinical Genetics Unit, Royal North Shore Hospital, Sydney, Australia. laura.rudaks@gmail.com., Yeow D; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, Australia.; Neurodegenerative Service, Prince of Wales Hospital, Sydney, Australia.; Neuroscience Research Australia, Sydney, Australia., Ng K; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Neurology Department, Royal North Shore Hospital, Sydney, Australia., Deveson IW; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, Australia.; Faculty of Medicine, University of New South Wales, Sydney, Australia., Kennerson ML; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; The Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, Australia., Kumar KR; Molecular Medicine Laboratory and Neurology Department, Concord Repatriation General Hospital, Sydney, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, Australia.; Faculty of Medicine, University of New South Wales, Sydney, Australia.; Faculty of Medicine, St Vincent's Healthcare Campus, UNSW Sydney, Sydney, Australia.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2024 Oct; Vol. 23 (5), pp. 2152-2168. Date of Electronic Publication: 2024 May 18.
Autor:
Samarakoon H; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW 2052, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia., Liyanage K; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW 2052, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia., Ferguson JM; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia., Parameswaran S; School of Electrical and Information Engineering, University of Sydney, Sydney, NSW 2008, Australia., Gamaarachchi H; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW 2052, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia.
Publikováno v:
Bioinformatics (Oxford, England) [Bioinformatics] 2024 Aug 02; Vol. 40 (8).
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 Jul 27; Vol. 15 (1), pp. 6327. Date of Electronic Publication: 2024 Jul 27.
Autor:
Pereira BA; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Ritchie S; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Chambers CR; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Gordon KA; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Magenau A; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Murphy KJ; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Nobis M; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Intravital Imaging Expertise Center, VIB Center for Cancer Biology, VIB, Leuven, Belgium., Tyma VM; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Liew YF; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Lucas MC; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Naeini MM; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Barkauskas DS; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; ACRF INCITe Intravital Imaging Centre, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Chacon-Fajardo D; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Translational Oncology Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Howell AE; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Parker AL; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Warren SC; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Reed DA; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Lee V; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Metcalf XL; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Lee YK; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., O'Regan LP; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Zhu J; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Trpceski M; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Fontaine ARM; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; ACRF INCITe Intravital Imaging Centre, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Stoehr J; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Rouet R; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Immune Biotherapies Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Lin X; Data Science Platform, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Chitty JL; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Porazinski S; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Translational Oncology Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Wu SZ; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Genentech Inc., South San Francisco, CA, USA., Filipe EC; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Cadell AL; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Translational Oncology Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Holliday H; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Kensington, New South Wales, Australia., Yang J; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Papanicolaou M; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Lyons RJ; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Zaratzian A; Histopathology Platform, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Tayao M; Histopathology Platform, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Da Silva A; Histopathology Platform, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Vennin C; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Division of Molecular Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands.; Oncode Institute, Amsterdam, Netherlands., Yin J; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Translational Oncology Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Dew AB; Centre for Advanced Histology & Microscopy, Peter MacCallum Cancer Centre, Parkville, Victoria, Australia., McMillan PJ; Centre for Advanced Histology & Microscopy, Peter MacCallum Cancer Centre, Parkville, Victoria, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia.; Biological Optical Microscopy Platform, The University of Melbourne, Parkville, Victoria, Australia., Goldstein LD; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Data Science Platform, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Deveson IW; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Croucher DR; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Translational Oncology Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Samuel MS; Centre for Cancer Biology, An Alliance of SA Pathology and University of South Australia, Adelaide, South Australia, Australia.; Basil Hetzel Institute for Translational Health Research, Queen Elizabeth Hospital, Woodville South, South Australia, Australia., Sim HW; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; NHMRC Clinical Trials Centre, University of Sydney, Camperdown, New South Wales, Australia.; Department of Medical Oncology, Chris O'Brien Lifehouse, Camperdown, New South Wales, Australia., Batten M; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Chantrill L; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; Department of Medical Oncology, Illawarra Shoalhaven Local Health District, Wollongong, New South Wales, Australia., Grimmond SM; Centre for Cancer Research and Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia., Gill AJ; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.; Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia., Samra J; Department of Surgery, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Jeffry Evans TR; Cancer Research UK Beatson Institute, Glasgow, UK.; School of Cancer Sciences, Institute of Cancer Sciences, University of Glasgow, Glasgow, UK., Sasaki T; Department of Biochemistry, Faculty of Medicine, Oita University, Oita, Japan., Phan TG; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Precision Immunology Program, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Swarbrick A; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Sansom OJ; Cancer Research UK Beatson Institute, Glasgow, UK.; School of Cancer Sciences, Institute of Cancer Sciences, University of Glasgow, Glasgow, UK., Morton JP; Cancer Research UK Beatson Institute, Glasgow, UK.; School of Cancer Sciences, Institute of Cancer Sciences, University of Glasgow, Glasgow, UK., Pajic M; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.; Translational Oncology Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia., Parker BL; Department of Anatomy and Physiology, University of Melbourne, Parkville, Victoria, Australia., Herrmann D; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Cox TR; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia., Timpson P; Cancer Ecosystems Program, Garvan Institute of Medical Research and The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine, University of New South Wales (UNSW) Sydney, Kensington, New South Wales, Australia.
Publikováno v:
Science advances [Sci Adv] 2024 Jul 05; Vol. 10 (27), pp. eadl1197. Date of Electronic Publication: 2024 Jul 03.
Autor:
Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK., Del Gobbo GF; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Couse M; Centre for Computational Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Dolzhenko E; Pacific Biosciences, Menlo Park, CA, USA., Nageshwaran SK; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Cheung WA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA., Xu IRL; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Dicaire MJ; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada., Spurdens G; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Matos-Rodrigues G; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, New South Wales, Australia., Scriba CK; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Roth V; Laboratoire de Génétique, CHRU de Nancy, Nancy, France., Wandzel M; Laboratoire de Génétique, CHRU de Nancy, Nancy, France., Bonnet C; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; INSERM-U1256 NGERE, Université de Lorraine, Nancy, France., Ashton C; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada., Agarwal A; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Peter C; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hasson D; Tisch Cancer Institute Bioinformatics for Next Generation Sequencing (BiNGS) Core, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Tsankova NM; Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Dewar K; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Lamont PJ; Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia., Laing NG; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Renaud M; Laboratoire de Génétique, CHRU de Nancy, Nancy, France.; Service de Neurologie, CHRU de Nancy, Nancy, France.; Service de Génétique Clinique, CHRU de Nancy, Nancy, France., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK., Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Usdin K; Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Nussenzweig A; Laboratory of Genome Integrity, National Cancer Institute, NIH, Bethesda, MD, USA., Napierala M; Department of Neurology, O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA., Chen Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China., Jiang H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Ravenscroft G; Centre for Medical Research University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia., Akbarian S; Department of Psychiatry, Department of Neuroscience and Department of Genetics and Genomic Sciences, Friedman Brain Institute Icahn School of Medicine at Mount Sinai, New York, NY, USA., Eberle MA; Pacific Biosciences, Menlo Park, CA, USA., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA., Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. m.danzi@med.miami.edu.
Publikováno v:
Nature genetics [Nat Genet] 2024 Jul; Vol. 56 (7), pp. 1366-1370. Date of Electronic Publication: 2024 Jun 27.
Autor:
Tanudisastro HA; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Deveson IW; Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Dashnow H; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA. h.dashnow@gmail.com., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia. daniel.macarthur@populationgenomics.org.au.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia. daniel.macarthur@populationgenomics.org.au.; Faculty of Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia. daniel.macarthur@populationgenomics.org.au.
Publikováno v:
Nature reviews. Genetics [Nat Rev Genet] 2024 Jul; Vol. 25 (7), pp. 460-475. Date of Electronic Publication: 2024 Feb 16.
Autor:
Gamaarachchi H; School of Computer Science and Engineering, University of New South Wales, Sydney, New South Wales 2052, Australia; hasindu@garvan.org.au i.deveson@garvan.org.au.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, New South Wales 2010, Australia Australia., Ferguson JM; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, New South Wales 2010, Australia Australia., Samarakoon H; School of Computer Science and Engineering, University of New South Wales, Sydney, New South Wales 2052, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, New South Wales 2010, Australia Australia., Liyanage K; School of Computer Science and Engineering, University of New South Wales, Sydney, New South Wales 2052, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, New South Wales 2010, Australia Australia., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia; hasindu@garvan.org.au i.deveson@garvan.org.au.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, New South Wales 2010, Australia Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales 2052, Australia.
Publikováno v:
Genome research [Genome Res] 2024 Jun 25; Vol. 34 (5), pp. 778-783. Date of Electronic Publication: 2024 Jun 25.