June 2021
Journal: Molecular Genetics and Genomic Medicine
Lead Author: Allison A. Dilliott
All Authors: Allison A. Dilliott, Kristina K. Zhang, Jian Wang, Agessandro Abrahao, Malcolm A. Binns, Sandra E. Black, Michael Borrie, Dar Dowlatshahi, Elizabeth Finger, Corinne E. Fischer, Andrew Frank, Morris Freedman, David Grimes, Ayman Hassan, Mandar Jog, Sanjeev Kumar, Anthony E. Lang, Jennifer Mandzia, Mario Masellis, Stephen H. Pasternak, Bruce G. Pollock, Tarek K. Rajji, Ekaterina Rogaeva, Demetrios J. Sahlas, Gustavo Saposnik, Christine Sato, Dallas Seitz, Christen Shoesmith, Thomas D. L. Steeves, Richard H. Swartz, Brian Tan, David F. Tang-Wai, Maria C. Tartaglia, John Turnbull, Lorne Zinman, ONDRI Investigators, Robert A. Hegele
Although genetic factors are known to contribute to neurodegenerative disease susceptibility, there remains a large amount of heritability unaccounted for across the diagnoses. Copy number variants (CNVs) contribute to these phenotypes, but their presence and influence on disease state remains relatively understudied.