Genome Res 2019 07 3;29(7):1057-1066. Epub 2019 Jun 3.
Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, EX2 5DW, United Kingdom.
Am J Med Genet B Neuropsychiatr Genet 2018 07;177(5):520-528
Institute of Medical Genetics, All Wales Medical Genetics Service, University Hospital of Wales, Cardiff, United Kingdom.
Hum Mutat 2018 09 25;39(9):1226-1237. Epub 2018 Jun 25.
Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Brain 2016 Mar;139(Pt 3):765-81
1 Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK 6 Randall Division for Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK 48 Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK
Clin Dysmorphol 2016 Apr;25(2):58-62
Laboratory Genetics, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.