Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

por Pandelache, Alison, Francis, David, Oertel, Ralph, Dickson, Rebecca, Sachdev, Rani, Ling, Ling, Gamage, Dinusha, Godler, David E.
Publicado 2021

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

por Baker, Emma K., Butler, Merlin G., Hartin, Samantha N., Ling, Ling, Bui, Minh, Francis, David, Rogers, Carolyn, Field, Michael J., Slee, Jennie, Gamage, Dinusha, Amor, David J., Godler, David E.
Publicado 2020

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

por Kraan, Claudine M, Baker, Emma K, Arpone, Marta, Bui, Minh, Ling, Ling, Gamage, Dinusha, Bretherton, Lesley, Rogers, Carolyn, Field, Michael J, Wotton, Tiffany L, Francis, David, Hunter, Matt F, Cohen, Jonathan, Amor, David J, Godler, David E
Publicado 2020

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

por Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende, Angelica M., Santa Maria, Lorena, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.
Publicado 2022