Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Gies Sj"'
Autor:
Gies Sj, Paras Garg, Oscar L. Rodriguez, Bharati Jadhav, Andrew J. Sharp, Alejandro Martin-Trujillo
Variable Number Tandem Repeats (VNTRs) are composed of large tandemly repeated motifs, many of which are highly polymorphic in copy number. However, due to their large size and repetitive nature, they remain poorly studied. To investigate the regulat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7e24fb95ecf279934bd7e94947a78a4
https://doi.org/10.1101/2020.12.16.423078
https://doi.org/10.1101/2020.12.16.423078
Autor:
Ibañez K; William Harvey Research Institute, Queen Mary University of London, London, UK., Jadhav B; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Zanovello M; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Gagliardi D; William Harvey Research Institute, Queen Mary University of London, London, UK.; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Clarkson C; William Harvey Research Institute, Queen Mary University of London, London, UK., Facchini S; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.; IRCCS Mondino Foundation, Pavia, Italy., Garg P; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Martin-Trujillo A; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gies SJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Galassi Deforie V; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Dalmia A; UK Dementia Research Institute, UCL, London, UK., Hensman Moss DJ; St George's, University of London, London, UK.; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK., Vandrovcova J; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Rocca C; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Moutsianas L; Genomics England, London, UK., Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Walker H; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Turner C; Centre for Neuromuscular Disease, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK., Shoai M; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK., Long JD; Departments of Psychiatry and Biostatistics, The University of Iowa, Iowa City, IA, USA., Fratta P; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK., Langbehn DR; Departments of Psychiatry and Biostatistics, The University of Iowa, Iowa City, IA, USA., Tabrizi SJ; UK Dementia Research Institute, UCL, London, UK.; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.; Huntington's Disease Centre, UCL, London, UK., Caulfield MJ; William Harvey Research Institute, Queen Mary University of London, London, UK., Cortese A; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK.; IRCCS Mondino Foundation, Pavia, Italy., Escott-Price V; Department of Psychological Medicine and Clinical Neuroscience, School of Medicine, Cardiff University, Cardiff, UK.; Dementia Research Institute, Cardiff University, Cardiff, UK., Hardy J; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK., Houlden H; Department of Neurodegenerative Disorders, Queen Square Institute of Neurology, UCL, London, UK.; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK., Sharp AJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Tucci A; William Harvey Research Institute, Queen Mary University of London, London, UK. a.tucci@qmul.ac.uk.; Department of Neuromuscular Diseases, Institute of Neurology, UCL, London, UK. a.tucci@qmul.ac.uk.
Publikováno v:
Nature medicine [Nat Med] 2024 Oct 01. Date of Electronic Publication: 2024 Oct 01.
Autor:
Jadhav B; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Garg P; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., van Vugt JJFA; Department of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands., Ibanez K; William Harvey Research Institute, Queen Mary University of London, London, UK., Gagliardi D; William Harvey Research Institute, Queen Mary University of London, London, UK.; Department of Neuromuscular Diseases, Institute of Neurology, University College London, London, UK., Lee W; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Shadrina M; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Mokveld T; Pacific Biosciences, Menlo Park, CA, USA., Dolzhenko E; Pacific Biosciences, Menlo Park, CA, USA., Martin-Trujillo A; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Gies SJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Altman G; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Rocca C; Department of Neuromuscular Diseases, Institute of Neurology, University College London, London, UK., Barbosa M; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Jain M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA.; Northeastern University, Boston, MA, USA., Lahiri N; SW Thames Centre for Genomics, St George's University of London & St George's University Hospitals NHS, London, UK., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust and Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK., Houlden H; Department of Neuromuscular Diseases, Institute of Neurology, University College London, London, UK., Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA, USA., Veldink J; Department of Neurology, UMC Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands., Tucci A; William Harvey Research Institute, Queen Mary University of London, London, UK., Sharp AJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA. andrew.sharp@mssm.edu.
Publikováno v:
Nature genetics [Nat Genet] 2024 Sep 23. Date of Electronic Publication: 2024 Sep 23.
Autor:
Garg P; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Martin-Trujillo A; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Rodriguez OL; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Gies SJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Hadelia E; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Jadhav B; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Jain M; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA., Paten B; UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA 95064, USA., Sharp AJ; Department of Genetics and Genomic Sciences and Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: andrew.sharp@mssm.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 May 06; Vol. 108 (5), pp. 809-824. Date of Electronic Publication: 2021 Mar 31.