Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Autorzy:
Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. LemmersRJLF; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. Vishnu VY; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India. Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Perrone B; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Facchini S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Vegezzi E; IRCCS Mondino Foundation, 27100 Pavia, Italy. Ravaglia S; IRCCS Mondino Foundation, 27100 Pavia, Italy. Wilson L; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. Mishra R; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India. Reyaz A; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India. Ahmad T; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India. Bhatia R; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India. Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK. Srivastava MP; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India. Cortese A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; IRCCS Mondino Foundation, 27100 Pavia, Italy. Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. Hanna MG; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK. Bugiardini E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
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Źródło:
Biomolecules [Biomolecules] 2023 Oct 24; Vol. 13 (11). Date of Electronic Publication: 2023 Oct 24.
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Autorzy:
Bruels CC; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, 55455. Littel HR; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, 55455. Daugherty AL; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, 55455. Stafki S; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, 55455. Estrella EA; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts. McGaughy ES; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, 32610. Truong D; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, 55455. Badalamenti JP; University of Minnesota Genomics Center, University of Minnesota, Minneapolis, Minnesota, 55455. Pais L; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts. Ganesh VS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts. O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts. Stalker HJ; Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, 32610. Wang Y; PerkinElmer Genomics, Pittsburgh, Pennsylvania. Collins C; PerkinElmer Genomics, Pittsburgh, Pennsylvania. Behlmann A; PerkinElmer Genomics, Pittsburgh, Pennsylvania. LemmersRJLF; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands. van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands. Laine R; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts. Ghosh PS; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts. Darras BT; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts. Zingariello CD; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, 32610. Pacak CA; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, 55455. Kunkel LM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts. Kang PB; Paul and Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, 55455.; Institute for Translational Neuroscience, University of Minnesota Medical School, Minneapolis, Minnesota, 55455.
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
Autorzy:
Mason AG; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Slieker RC; Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands. Balog J; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. LemmersRJLF; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Wong CJ; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. Yao Z; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. Lim JW; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. Filippova GN; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. Ne E; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Tawil R; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA. Heijmans BT; Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.; Netherlands Consortium for Healthy Aging, Leiden, The Netherlands. Tapscott SJ; Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA. van der Maarel SM; Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. .
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Źródło:
Skeletal muscle [Skelet Muscle] 2017 Jun 06; Vol. 7 (1), pp. 12. Date of Electronic Publication: 2017 Jun 06.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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