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New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

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Title: New genotype-phenotype correlations and management recommendations for individuals with RERE variants.
Authors: Curtis D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX., Owen NM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX., Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Cell and Gene Therapy, Baylor College of Medicine, Houston, TX., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Keller K; Center for Mitochondria and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA., Strong A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Shen J; Division of Genomic Medicine, Department of Pediatrics, UC Davis Health, Sacramento, CA., DeFilippo C; Division of Genomic Medicine, Department of Pediatrics, UC Davis Health, Sacramento, CA., Goel H; Hunter Genetics, Waratah, NSW, Australia; School of Medicine and Public Health, University of Newcastle, Callaghan, NSW, Australia., Schmalz B; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Chaudhari BP; Division of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Division of Neonatology, Nationwide Children's Hospital, Columbus, OH; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH; Clinical and Translational Science Institute, The Ohio State University and Nationwide Children's Hospital, Columbus, OH., Joss S; West of Scotland Centre for Genomic Medicine, Glasgow, United Kingdom., Gucsavas-Calikoglu M; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC., Shiloh-Malawsky Y; Department of Neurology, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC., Perilla-Young Y; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC., Thompson O; Division of Pediatric Genetics, Medical University of South Carolina, Charleston, SC., Champaigne N; Division of Pediatric Genetics, Medical University of South Carolina, Charleston, SC., Chiriatti L; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Ferilli M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Priolo M; Medical and Laboratory Genetics, AORN A Cardarelli, Naples, Italy., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., El Achkar CM; Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, MA., Valentine R; Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, MA., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Syryn H; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Cools M; Department of Pediatric Endocrinology, Ghent University Hospital, Ghent, Belgium; Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium., De Baere E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile., Massey H; South East of Scotland Regional Genetic Service, Western General Hospital, Edinburgh, United Kingdom., Alanay Y; Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Istanbul, Turkey; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Akgun-Dogan O; Acibadem Mehmet Ali Aydinlar University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Istanbul, Turkey; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW, Australia; Specialty of Genomic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Bournazos AM; Kids Neuroscience Center, The Children's Hospital at Westmead, Westmead, NSW, Australia; The Children's Medical Research Institute, Westmead, NSW, Australia., Cooper ST; Kids Neuroscience Center, The Children's Hospital at Westmead, Westmead, NSW, Australia; The Children's Medical Research Institute, Westmead, NSW, Australia; School of Medical Sciences, Faculty of Health and Medicine, University of Sydney, Camperdown, NSW, Australia., Faundes V; Laboratorio de Genetica y Enfermedades Metabolicas, Instituto de Nutricion y Tecnologia de los Alimentos, Universidad de Chile, Santiago, Chile., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX. Electronic address: dscott@bcm.edu.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun; Vol. 28 (6), pp. 102580. Date of Electronic Publication: 2026 Apr 15.
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
FullText Text:
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DbLabel: MEDLINE Ultimate
An: 41988794
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PubType: Academic Journal
PubTypeId: academicJournal
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Laboratorio de Genetica y Enfermedades Metabolicas, Instituto de Nutricion y Tecnologia de los Alimentos, Universidad de Chile, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Scott+DA%22">Scott DA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX. 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