Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

Autor: Pennings M; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Meijer RPP; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Gerrits M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Janssen J; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Pfundt R; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Gardeitchik T; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Schouten M; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Voermans N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical Center, Nijmegen, the Netherlands., van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical Center, Nijmegen, the Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands. Erik-jan.kamsteeg@radboudumc.nl.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Jun; Vol. 31 (6), pp. 654-662. Date of Electronic Publication: 2023 Feb 13.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.

Autor: Pennings M; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands., Schouten MI; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands., van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud university medical centre, Nijmegen, The Netherlands., Meijer RPP; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands., de Bot ST; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands., Kriek M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Saris CGJ; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud university medical centre, Nijmegen, The Netherlands., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., van Es MA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Zuidgeest DMH; Department of Neurology, Ikazia hospital, Rotterdam, The Netherlands., Elting MW; Department of Clinical Genetics, Amsterdam UMC, Vrije Universtiteit Amsterdam, Amsterdam, The Netherlands., van de Kamp JM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universtiteit Amsterdam, Amsterdam, The Netherlands., van Spaendonck-Zwarts KY; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Die-Smulders C; Department of Human Genetics and research Institute GROW, Maastricht University Medical Center, Maastricht, The Netherlands., Brilstra EH; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Verschuuren CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., de Vries BBA; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands., Bruijn J; Department of Pediatrics, Skaraborg Hospital, Skövde, Sweden., Sofou K; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg Sweden, Gothenburg, Sweden., Duijkers FA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Jaeger B; Department of Pediatric Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Schieving JH; Department of Pediatric Neurology, Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud university medical centre, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands. Erik-jan.kamsteeg@radboudumc.nl.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jan; Vol. 28 (1), pp. 40-49. Date of Electronic Publication: 2019 Sep 05.