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Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.

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Title: Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.
Authors: Zhou Z; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Kim J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea., Huang AY; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Nolan M; Department of Neurology, The Sean M. Healey and AMG Center for ALS at Mass General, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Park J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Doan R; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Shin T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Miller MB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Bae M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Zhao B; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Kim J; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea., Chhouk B; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Morillo K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Yeh RC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Kenny C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Neil JE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA., Lee CZ; Department of Neurology, The Sean M. Healey and AMG Center for ALS at Mass General, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Ohkubo T; Department of Neurology, Yokohama City Minato Red Cross Hospital, Yokohama, Japan.; Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA, USA., Ravits J; Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA, USA., Ansorge O; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Ostrow LW; Department of Neurology, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA., Lagier-Tourenne C; Department of Neurology, The Sean M. Healey and AMG Center for ALS at Mass General, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. clagier-tourenne@mgh.harvard.edu., Lee EA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. ealee@childrens.harvard.edu.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA. ealee@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. ealee@childrens.harvard.edu., Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.
Source: Nature genetics [Nat Genet] 2026 May; Vol. 58 (5), pp. 1019-1029. Date of Electronic Publication: 2026 Apr 15.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.
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  Data: <searchLink fieldCode="AU" term="%22Zhou+Z%22">Zhou Z</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea.<br /><searchLink fieldCode="AU" term="%22Huang+AY%22">Huang AY</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Nolan+M%22">Nolan M</searchLink>; Department of Neurology, The Sean M. Healey and AMG Center for ALS at Mass General, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Park+J%22">Park J</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Doan+R%22">Doan R</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Shin+T%22">Shin T</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Miller+MB%22">Miller MB</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bae+M%22">Bae M</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zhao+B%22">Zhao B</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Department of Biological Sciences, Sungkyunkwan University, Suwon, South Korea.<br /><searchLink fieldCode="AU" term="%22Chhouk+B%22">Chhouk B</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Morillo+K%22">Morillo K</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Yeh+RC%22">Yeh RC</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Kenny+C%22">Kenny C</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Neil+JE%22">Neil JE</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lee+CZ%22">Lee CZ</searchLink>; Department of Neurology, The Sean M. Healey and AMG Center for ALS at Mass General, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ohkubo+T%22">Ohkubo T</searchLink>; Department of Neurology, Yokohama City Minato Red Cross Hospital, Yokohama, Japan.; Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ravits+J%22">Ravits J</searchLink>; Department of Neurosciences, School of Medicine, University of California, San Diego, La Jolla, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ansorge+O%22">Ansorge O</searchLink>; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Ostrow+LW%22">Ostrow LW</searchLink>; Department of Neurology, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Lagier-Tourenne+C%22">Lagier-Tourenne C</searchLink>; Department of Neurology, The Sean M. Healey and AMG Center for ALS at Mass General, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. clagier-tourenne@mgh.harvard.edu.<br /><searchLink fieldCode="AU" term="%22Lee+EA%22">Lee EA</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. ealee@childrens.harvard.edu.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA. ealee@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. ealee@childrens.harvard.edu.<br /><searchLink fieldCode="AU" term="%22Walsh+CA%22">Walsh CA</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.; Manton Center for Orphan Disease, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA. christopher.walsh@childrens.harvard.edu.
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2026 May; Vol. 58 (5), pp. 1019-1029. <i>Date of Electronic Publication: </i>2026 Apr 15.
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