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Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.

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Title: Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Authors: Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA., Eklund EA; Pediatrics, Clinical Sciences Lund, Lund University, Lund, Sweden., Rosenfeld JA; Baylor Genetics Laboratories, Houston, TX.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT., Abu-El-Haija A; Division of Genetics and Genomics, Harvard Medical School, Boston, MA., Bris C; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015-INSERM U1083, Angers, France., Barth M; Department of Biochemistry and Genetics, Angers University Hospital Center, Angers, France., Chae JH; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Fratter C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Gamble C; Cook Children's Clinical Genetics, Fort Worth, TX., Gavrilova RH; Department of Neurology, Mayo Clinic, Rochester, MN., Haven J; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT., Hoffman TL; Southern California Kaiser Permanente Medical Group, Department of Regional Genetics, Anaheim, CA., Hunter JV; Department of Pediatric Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Larson A; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, CO., Lotze TE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Magoulas P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Magness EC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Bootin DM; The Woman's Hospital of Texas, Houston, TX., Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Nesbitt V; NHS Highly Specialized Services for Rare Mitochondrial Disorders-Oxford Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Pastore MT; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Poulton J; Nuffield Department of Women's and Reproductive Health, The Women's Centre, University of Oxford, Oxford, United Kingdom., Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Joint BCM-CHUK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong SAR., Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Posey J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Rotenberg J; Houston Specialty Clinic, Houston, TX., Schmalz B; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Shinde DN; Ambry Genetics, Aliso Viejo, CA., Powis Z; Quest Diagnostics, Marlborough, MA., Sukenik-Halevy R; Genetic Institute, Meir Medical Center, Kfar Saba, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Truxal KV; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Uster T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada., Machado Bressan Wilke MV; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Klee E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Woo H; Department of Pediatrics, Chungbuk National University Hospital, Cheongju, Republic of Korea., Younkin D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Zhao J; Cancer Metabolism and Microenvironment Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA., Granadillo J; Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada., Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA., Okur V; Molecular Diagnostics, New York Genome Center, New York, NY.
Source: Genetics in medicine open [Genet Med Open] 2025 Mar 20; Vol. 3, pp. 103425. Date of Electronic Publication: 2025 Mar 20 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
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  Data: Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
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