The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective
Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn, Dennis Velakoulis, Michael Fahey, Patrick Kwan, Richard J. Leventer, Haloom Rafehi, Belinda Chong, Zornitza Stark, Sebastian Lunke, Dean Phelan, Melanie O'Keefe, Kirby Siemering, Kirsty West, Adrienne Sexton, Anna Jarmolowicz, Jessica Taylor, Joshua R. Schultz, Rebecca Purvis, Eloise Uebergang, Heather V. Chalinor, Belinda Creighton, Nikki Gelfand, Tamar Saks, Yael Prawer, Yana Smagarinsky, Tianxin Pan, Ilias Goranitis, Zanfina Ademi, Clara Gaff, Aamira Huq, Maie Walsh, Paul A. James, Emma Krzesinski, Mathew Wallis, Chloe Stutterd, Melanie Bahlo, Martin B. Delatycki, Samuel F. Berkovic
Topics & Concepts
AtaxiaExome sequencingDystoniaMedicineDiseaseMovement disordersSpinocerebellar ataxiaPediatricsBioinformaticsPhenotypeGeneticsPathologyBiologyPsychiatryGeneGenomics and Rare DiseasesGenetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders