Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences

por Martinussen, Jo, Chalk, Michal, Elliott, Justine, Gallacher, Lyndon
Publicado 2022

Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X

por Arpone, Marta, Baker, Emma K., Bretherton, Lesley, Bui, Minh, Li, Xin, Whitaker, Simon, Dissanayake, Cheryl, Cohen, Jonathan, Hickerton, Chriselle, Rogers, Carolyn, Field, Mike, Elliott, Justine, Aliaga, Solange M., Ling, Ling, Francis, David, Hearps, Stephen J. C., Hunter, Matthew F., Amor, David J., Godler, David E.
Publicado 2018

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome

por Baker, Emma K., Arpone, Marta, Vera, Solange Aliaga, Bretherton, Lesley, Ure, Alexandra, Kraan, Claudine M., Bui, Minh, Ling, Ling, Francis, David, Hunter, Matthew F., Elliott, Justine, Rogers, Carolyn, Field, Michael J., Cohen, Jonathan, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.
Publicado 2019

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

por Baker, Emma K., Arpone, Marta, Aliaga, Solange M., Bretherton, Lesley, Kraan, Claudine M., Bui, Minh, Slater, Howard R., Ling, Ling, Francis, David, Hunter, Matthew F., Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., Godler, David E.
Publicado 2019