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Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

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Title: Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
Authors: Keefe AC; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA. alexandra.keefe@seattlechildrens.org.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA. alexandra.keefe@seattlechildrens.org., Jensen DM; Seattle Children's Research Institute, Seattle, WA, USA., Pham MM; Seattle Children's Research Institute, Seattle, WA, USA., Au NYT; Seattle Children's Research Institute, Seattle, WA, USA., Beckman E; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Penon-Portmann M; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Shelkowitz E; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Bend R; Prevention Genetics, Marshfield, WI, USA., Morrow MM; GeneDx, Gaithersburg, MD, USA., Kruszka P; GeneDx, Gaithersburg, MD, USA., Vats D; Kaiser Permanente, Sacramento, CA, USA., Russell BE; University of California, Los Angeles, Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine, Los Angeles, CA, USA., Chan E; University of California, Los Angeles, Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine, Los Angeles, CA, USA., Wong D; University of California, Los Angeles, Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine, Los Angeles, CA, USA., Rabani A; University of California, Los Angeles, Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine, Los Angeles, CA, USA., O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA., Sahai I; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA., Widmeyer K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Sperry ED; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Hallinan BE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Tryon R; Department of Genetics, M Health Fairview, Minneapolis, MN, USA.; Department of Pediatrics, Division of Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota Medical School, Minneapolis, MN, USA., Lund TC; Department of Pediatrics, Division of Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota Medical School, Minneapolis, MN, USA., Eichler FS; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Massachusetts General Research Institute, Boston, MA, USA., Sun A; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Bennett JT; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 May 09; Vol. 10 (1), pp. 38. Date of Electronic Publication: 2025 May 09.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
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  Data: Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Keefe+AC%22">Keefe AC</searchLink>; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA. alexandra.keefe@seattlechildrens.org.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA. alexandra.keefe@seattlechildrens.org.<br /><searchLink fieldCode="AU" term="%22Jensen+DM%22">Jensen DM</searchLink>; Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Pham+MM%22">Pham MM</searchLink>; Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Au+NYT%22">Au NYT</searchLink>; Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Beckman+E%22">Beckman E</searchLink>; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Penon-Portmann+M%22">Penon-Portmann M</searchLink>; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Shelkowitz+E%22">Shelkowitz E</searchLink>; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Bend+R%22">Bend R</searchLink>; Prevention Genetics, Marshfield, WI, USA.<br /><searchLink fieldCode="AU" term="%22Morrow+MM%22">Morrow MM</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Kruszka+P%22">Kruszka P</searchLink>; GeneDx, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Vats+D%22">Vats D</searchLink>; Kaiser Permanente, Sacramento, CA, USA.<br /><searchLink fieldCode="AU" term="%22Russell+BE%22">Russell BE</searchLink>; University of California, Los Angeles, Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Chan+E%22">Chan E</searchLink>; University of California, Los Angeles, Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Wong+D%22">Wong D</searchLink>; University of California, Los Angeles, Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Rabani+A%22">Rabani A</searchLink>; University of California, Los Angeles, Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22O'Grady+L%22">O'Grady L</searchLink>; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sahai+I%22">Sahai I</searchLink>; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Widmeyer+K%22">Widmeyer K</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.<br /><searchLink fieldCode="AU" term="%22Sperry+ED%22">Sperry ED</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.<br /><searchLink fieldCode="AU" term="%22Hallinan+BE%22">Hallinan BE</searchLink>; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.<br /><searchLink fieldCode="AU" term="%22Tryon+R%22">Tryon R</searchLink>; Department of Genetics, M Health Fairview, Minneapolis, MN, USA.; Department of Pediatrics, Division of Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota Medical School, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Lund+TC%22">Lund TC</searchLink>; Department of Pediatrics, Division of Blood and Marrow Transplantation & Cellular Therapy, University of Minnesota Medical School, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Eichler+FS%22">Eichler FS</searchLink>; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Massachusetts General Research Institute, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sun+A%22">Sun A</searchLink>; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Bennett+JT%22">Bennett JT</searchLink>; University of Washington, Department of Pediatrics, Division of Medical Genetics, Seattle, WA, USA.; Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Department of Laboratory Medicine and Pathology, Seattle, WA, USA.
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  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2025 May 09; Vol. 10 (1), pp. 38. <i>Date of Electronic Publication: </i>2025 May 09.
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