Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
Year: 2025
Type: article
Language: en
Topic: Genomic variations and chromosomal abnormalities
Authors and affiliations:
raw_author_name: James Fasham
raw_affiliation_strings: Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK; Department of Clinical Genetics, Royal Devon University Hospital, EX1 2ED Exeter, UK
raw_author_name: Julia Rankin
raw_affiliation_strings: Department of Clinical Genetics, Royal Devon University Hospital, EX1 2ED Exeter, UK
raw_author_name: Rachel Schot
raw_affiliation_strings: Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
raw_author_name: Susan M. White
raw_affiliation_strings: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia
raw_author_name: Katrina M. Bell
raw_affiliation_strings: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia
raw_author_name: Matthew N. Wakeling
raw_affiliation_strings: Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK
raw_author_name: Lucy J. Mallin
raw_affiliation_strings: Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, EX2 5DW Exeter, UK
raw_author_name: Alex Shah
raw_affiliation_strings: University Hospitals Plymouth NHS Trust, Derriford Road, Crownhill, Plymouth, PL6 8DH Devon, UK
raw_author_name: Michelle G. de Silva
raw_affiliation_strings: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia
raw_author_name: David I. Francis
raw_affiliation_strings: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia
raw_author_name: Maie Walsh
raw_affiliation_strings: Genomic Medicine, the Royal Melbourne Hospital, Parkville, VIC, Australia
raw_author_name: Emily E. Jones
raw_affiliation_strings: Bristol Genetics Laboratory, North Bristol NHS Trust, BS10 5NB Bristol, UK
raw_author_name: Kayal Vijayakumar
raw_affiliation_strings: Department of Paediatric Neurology, University Hospitals Bristol NHS Foundation Trust, BS1 3NU Bristol, UK
raw_author_name: Katie Johnson
raw_affiliation_strings: Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, NG5 1PB Nottingham, UK
raw_author_name: Francis H. Sansbury
raw_affiliation_strings: All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, CF14 7YU Cardiff, UK; Division of Cancer & Genetics, School of Medicine, Cardiff University, CF14 4XN Cardiff, UK
raw_author_name: Johann te Water Naudé
raw_affiliation_strings: Department of Paediatric Neurology, University Hospital of Wales, CF14 4XW Cardiff, UK
raw_author_name: Paola Giunti
raw_affiliation_strings: Queen Square Institute of Neurology, WC1N 3BG London, UK
raw_author_name: Marios Hadjivassiliou
raw_affiliation_strings: Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Trust and University of Sheffield, S10 2JF Sheffield, UK
raw_author_name: Andrea H. Nemeth
raw_affiliation_strings: Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, OX3 7LD Oxford, UK
raw_author_name: George K. Tofaris
raw_affiliation_strings: Nuffield Department of Clinical Neurosciences, University of Oxford, OX3 9DU Oxford, UK; Department of Clinical Neurology, Oxford University Hospitals NHS Foundation Trust, OX3 9DU Oxford, UK
raw_author_name: Carlo Rinaldi
raw_affiliation_strings: Department of Clinical Neurology, Oxford University Hospitals NHS Foundation Trust, OX3 9DU Oxford, UK; Institute of Developmental and Regenerative Medicine, University of Oxford, OX3 7TY Oxford, UK
raw_author_name: Benito Banos-Pinero
raw_affiliation_strings: Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, OX3 9DU Oxford, UK
raw_author_name: Marianna Selikhva
raw_affiliation_strings: Neurology Department, Southmead Hospital, BS10 5NB Bristol, UK
raw_author_name: Nishanka Ubeyratna
raw_affiliation_strings: Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK
raw_author_name: Anneke Kievit
raw_affiliation_strings: Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
raw_author_name: Frank Sleutels
raw_affiliation_strings: Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
raw_author_name: Joey van Giessen
raw_affiliation_strings: Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
raw_author_name: Tahsin Stefan Barakat
raw_affiliation_strings: Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
raw_author_name: Timothy S. Hall
raw_affiliation_strings: Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK
raw_author_name: Alan Whone
raw_affiliation_strings: Southmead Hospital, BS10 5NB Bristol, UK
raw_author_name: Eleanor Thomas
raw_affiliation_strings: Department of Child Health, Royal Devon University Hospital, EX1 2ED Exeter, UK
raw_author_name: Joseph S. Leslie
raw_affiliation_strings: Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK
raw_author_name: Rosemary A. Bamford
raw_affiliation_strings: Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK
raw_author_name: Aaron R. Jeffries
raw_affiliation_strings: Biosciences, University of Exeter, EX1 2LU Exeter, UK
raw_author_name: Jenny Lord
raw_affiliation_strings: Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, S10 2HQ Sheffield, UK
raw_author_name: Susan Walker
raw_affiliation_strings: Genomics England, EC1M 6BQ London, UK
raw_author_name: Tjakko J. van Ham
raw_affiliation_strings: Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
raw_author_name: Sue L. Hill
raw_affiliation_strings: NHS England, London, UK
raw_author_name: Lucy McGavin
raw_affiliation_strings: University Hospitals Plymouth NHS Trust, Derriford Road, Crownhill, Plymouth, PL6 8DH Devon, UK; University of Plymouth, PL4 8AA Plymouth, UK
raw_author_name: Andrew Parrish
raw_affiliation_strings: Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, EX2 5DW Exeter, UK
raw_author_name: Andrew H. Crosby
raw_affiliation_strings: Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK
raw_author_name: Emma L. Baple
raw_affiliation_strings: Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK; Department of Clinical Genetics, Royal Devon University Hospital, EX1 2ED Exeter, UK. Electronic address: e.baple@exeter.ac.uk
raw_author_name: Alistair T. Pagnamenta
raw_affiliation_strings: Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, EX2 5DW Exeter, UK. Electronic address: a.pagnamenta@exeter.ac.uk