Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

Journal:

American Journal of Human Genetics

Published:

2026-01-08

DOI:

10.1016/j.ajhg.2025.11.011

Affiliations:

33

Authors:

43

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Institutions	Authors	Share
University of Exeter, United Kingdom (UK)	9.000000	0.21
Erasmus University Medical Center (Erasmus MC), Netherlands	6.000000	0.14
Royal Devon and Exeter Hospital, United Kingdom (UK)	3.000000	0.07
Victorian Clinical Genetics Services (VCGS), Australia	2.500000	0.06
Royal Devon University Healthcare NHS Foundation Trust, United Kingdom (UK)	2.000000	0.05
Oxford University Hospitals NHS Trust (OUH), United Kingdom (UK)	2.000000	0.05
Southmead Hospital, United Kingdom (UK)	2.000000	0.05
University Hospitals Plymouth NHS Trust, United Kingdom (UK)	1.500000	0.03
The University of Sheffield, United Kingdom (UK)	1.500000	0.03
University of Oxford, United Kingdom (UK)	1.500000	0.03
Murdoch Children's Research Institute (MCRI), Australia	1.000000	0.02
Royal Melbourne Hospital (RMH), Australia	1.000000	0.02
North Bristol NHS Trust, United Kingdom (UK)	1.000000	0.02
University Hospitals Bristol and Weston NHS Foundation Trust (UHBW NHS), United Kingdom (UK)	1.000000	0.02
Nottingham Regional Genetics Laboratories, NUH, United Kingdom (UK)	1.000000	0.02
University Hospital of Wales, United Kingdom (UK)	1.000000	0.02
UCL Queen Square Institute of Neurology, United Kingdom (UK)	1.000000	0.02
Genomics England, United Kingdom (UK)	1.000000	0.02
NHS England, United Kingdom (UK)	1.000000	0.02
The University of Melbourne (UniMelb), Australia	0.500000	0.01
Sheffield Teaching Hospitals NHS Foundation Trust, United Kingdom (UK)	0.500000	0.01
Nuffield Orthopaedic Centre NHS Trust, United Kingdom (UK)	0.500000	0.01
University of Plymouth, United Kingdom (UK)	0.500000	0.01
All Wales Medical Genomics Service, United Kingdom (UK)	0.250000	0.01
NHS Wales, United Kingdom (UK)	0.250000	0.01
Cardiff & Vale University Health Board, United Kingdom (UK)	0.250000	0.01
Cardiff University, United Kingdom (UK)	0.250000	0.01

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