Bridging the gap: Short structural variants in the genetics of anorexia nervosa

por Berthold, Natasha, Pytte, Julia, Bulik, Cynthia M., Tschochner, Monika, Medland, Sarah E., Akkari, Patrick Anthony
Publicado 2022

Structural Variants May Be a Source of Missing Heritability in sALS

por Theunissen, Frances, Flynn, Loren L., Anderton, Ryan S., Mastaglia, Frank, Pytte, Julia, Jiang, Leanne, Hodgetts, Stuart, Burns, Daniel K., Saunders, Ann, Fletcher, Sue, Wilton, Steve D., Akkari, Patrick Anthony
Publicado 2020

Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis

por Pytte, Julia, Anderton, Ryan S., Flynn, Loren L., Theunissen, Frances, Jiang, Leanne, Pitout, Ianthe, James, Ian, Mastaglia, Frank L., Saunders, Ann M., Bedlack, Richard, Siddique, Teepu, Siddique, Nailah, Akkari, P. Anthony
Publicado 2020

Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort

por Pytte, Julia, Flynn, Loren L., Anderton, Ryan S., Mastaglia, Frank L., Theunissen, Frances, James, Ian, Pfaff, Abigail, Koks, Sulev, Saunders, Ann M., Bedlack, Richard, Burns, Daniel K., Lutz, Michael W., Siddique, Nailah, Siddique, Teepu, Roses, Allen D., Akkari, P. Anthony
Publicado 2020