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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-025-00497-1 |
