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Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.

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Title: Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.
Authors: Weisburd B; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA. Electronic address: weisburd@broadinstitute.org., Sharma R; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; UC Santa Cruz Genomics Institute, UCSC, Santa Cruz, CA., Pata V; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Anesthesiology and Intensive Care Clinic, Tartu University Hospital, Tartu, Estonia., Reimand T; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Ganesh VS; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA; Department of Neurology, Brigham & Women's Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Austin-Tse C; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., O'Heir E; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., O'Leary M; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA., Pais L; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA., Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN., Daugherty AL; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN., Folland C; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia., Peric S; University of Belgrade, Faculty of Medicine, Belgrade, Serbia; University Clinical Centre of Serbia, Neurology Clinic, Belgrade, Serbia., Fahmy N; Neuromuscular Center, Ain Shams University, Cairo, Egypt., Udd B; Tampere Neuromuscular Center and Folkhälsan Research Center, Helsinki, Finland., Horáková M; Department of Neurology, Neuromuscular Center ERN, University Hospital Brno, Brno, Czech Republic; Faculty of Medicine, Masaryk University, Brno, Czech Republic., Łusakowska A; Department of Neurology, Neuromuscular Center ERN, Medical University of Warsaw, Warsaw, Poland., Manoj R; National Institute of Mental Health and Neuro Sciences, Bengaluru, India., Nalini A; National Institute of Mental Health and Neuro Sciences, Bengaluru, India., Karcagi V; Istenhegyi Genetic Diagnostic Centre, Molecular Genetic Laboratory, Budapest, Hungary., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD., Haliloğlu G; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Herguner O; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Adana, Turkey., Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN., Ravenscroft G; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia., Laing N; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia., Scott HS; Centre for Cancer Biology, An SA Pathology & UniSA Alliance, Adelaide, SA, Australia., Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom., Pajusalu S; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Õunap K; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Tiao G; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA., Rehm HL; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: odonnell@broadinstitute.org.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Apr; Vol. 27 (4), pp. 101336. Date of Electronic Publication: 2024 Dec 09.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.
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  Data: <searchLink fieldCode="AU" term="%22Weisburd+B%22">Weisburd B</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA. Electronic address: weisburd@broadinstitute.org.<br /><searchLink fieldCode="AU" term="%22Sharma+R%22">Sharma R</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; UC Santa Cruz Genomics Institute, UCSC, Santa Cruz, CA.<br /><searchLink fieldCode="AU" term="%22Pata+V%22">Pata V</searchLink>; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Anesthesiology and Intensive Care Clinic, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Reimand+T%22">Reimand T</searchLink>; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA; Department of Neurology, Brigham & Women's Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Austin-Tse+C%22">Austin-Tse C</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Osei-Owusu+I%22">Osei-Owusu I</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22O'Heir+E%22">O'Heir E</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; 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Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Peric+S%22">Peric S</searchLink>; University of Belgrade, Faculty of Medicine, Belgrade, Serbia; University Clinical Centre of Serbia, Neurology Clinic, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Fahmy+N%22">Fahmy N</searchLink>; Neuromuscular Center, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Udd+B%22">Udd B</searchLink>; Tampere Neuromuscular Center and Folkhälsan Research Center, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Horáková+M%22">Horáková M</searchLink>; Department of Neurology, Neuromuscular Center ERN, University Hospital Brno, Brno, Czech Republic; Faculty of Medicine, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Łusakowska+A%22">Łusakowska A</searchLink>; Department of Neurology, Neuromuscular Center ERN, Medical University of Warsaw, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Manoj+R%22">Manoj R</searchLink>; National Institute of Mental Health and Neuro Sciences, Bengaluru, India.<br /><searchLink fieldCode="AU" term="%22Nalini+A%22">Nalini A</searchLink>; National Institute of Mental Health and Neuro Sciences, Bengaluru, India.<br /><searchLink fieldCode="AU" term="%22Karcagi+V%22">Karcagi V</searchLink>; Istenhegyi Genetic Diagnostic Centre, Molecular Genetic Laboratory, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Polavarapu+K%22">Polavarapu K</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Lochmüller+H%22">Lochmüller H</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Haliloğlu+G%22">Haliloğlu G</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Herguner+O%22">Herguner O</searchLink>; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Adana, Turkey.<br /><searchLink fieldCode="AU" term="%22Kang+PB%22">Kang PB</searchLink>; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN.<br /><searchLink fieldCode="AU" term="%22Ravenscroft+G%22">Ravenscroft G</searchLink>; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Laing+N%22">Laing N</searchLink>; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Scott+HS%22">Scott HS</searchLink>; Centre for Cancer Biology, An SA Pathology & UniSA Alliance, Adelaide, SA, Australia.<br /><searchLink fieldCode="AU" term="%22Töpf+A%22">Töpf A</searchLink>; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pajusalu+S%22">Pajusalu S</searchLink>; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Õunap+K%22">Õunap K</searchLink>; Department of Genetic and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Tiao+G%22">Tiao G</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: odonnell@broadinstitute.org.
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