SYT1-associated neurodevelopmental disorder: a case series
Kate Baker, Sarah L Gordon, Holly Melland, Fabian Bumbak, Daniel J Scott, Tess J Jiang, David Owen, Bradley J Turner, Stewart G Boyd, Mari Rossi, Mohammed Al-Raqad, Orly Elpeleg, Dawn Peck, Grazia MS Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias Haack Show all
Brain | OXFORD UNIV PRESS | Published : 2018
Awarded by UK Medical Research Council
Awarded by National Heart, Lung and Blood Institute
Awarded by National Human Genome Research Institute
Awarded by US National Human Genome Research Institute
K.B. is funded by the National Institute of Health Research (Academic Clinical Lectureship) and UK Medical Research Council (SUAG/034/RG91365). S.L.G. and D.J.S. are funded by the National Health and Medical Research Council of Australia (Project Grants and Career Development Fellowships). H.M. is supported by an Australian Government Research Training Program Scholarship. The Florey Institute of Neuroscience and Mental Health acknowledges the strong support from the Victorian Government and in particular, funding from the Operational Infrastructure Support Grant. B.J.T. is supported by the National Health and Medical Research Council of Australia (Project Grants) and Stafford Fox Medical Research Foundation. M.A.K. is funded by the Wellcome Trust (Intermediate Fellowship). Sequencing and analysis of Patient Eight was provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and was funded by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung and Blood Institute to Daniel MacArthur and Heidi Rehm (UM1HG008900). This work was supported by the Undiagnosed Diseases Program-Victoria (UDP-Vic), Murdoch Children's Research Institute, Melbourne Australia. Sequencing and analysis of Patient Nine was funded by a grant from the National Human Genome Research Institute to R.A.G. (UM1HG008898). Sequencing and analysis of Patient Eleven was funded by a grant from the US National Human Genome Research Institute (UM1HG007301).