Special Issue: Genetics of Prader–Willi Syndrome

by David E. Godler, Merlin G. Butler
Published 2021-09-01

β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.

by Claudine M Kraan, Kim M Cornish, Quang M Bui, Xin Li, Howard R Slater, David E Godler
Published 2018-01-01

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

by Alison Pandelache, David Francis, Ralph Oertel, Rebecca Dickson, Rani Sachdev, Ling Ling, Dinusha Gamage, David E. Godler
Published 2021-05-01

Growth Trajectories in Genetic Subtypes of Prader–Willi Syndrome

by Daisy A. Shepherd, Niels Vos, Susan M. Reid, David E. Godler, Angela Guzys, Margarita Moreno-Betancur, David J. Amor
Published 2020-07-01

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

by Emma K. Baker, David E. Godler, Minh Bui, Chriselle Hickerton, Carolyn Rogers, Mike Field, David J. Amor, Lesley Bretherton
Published 2018-08-01

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

by Alison Pandelache, Emma K Baker, Solange M. Aliaga, Marta Arpone, Robin Forbes, Zornitza Stark, David Francis, David E. Godler
Published 2019-04-01

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

by Claudine M Kraan, Emma K Baker, Marta Arpone, Minh Bui, Ling Ling, Dinusha Gamage, Lesley Bretherton, Carolyn Rogers, Michael J Field, Tiffany L Wotton, David Francis, Matt F Hunter, Jonathan Cohen, David J Amor, David E Godler
Published 2020-10-01

Significantly Elevated <i>FMR1</i> mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

by Michael Field, Tracy Dudding-Byth, Marta Arpone, Emma K. Baker, Solange M. Aliaga, Carolyn Rogers, Chriselle Hickerton, David Francis, Dean G. Phelan, Elizabeth E. Palmer, David J. Amor, Howard Slater, Lesley Bretherton, Ling Ling, David E. Godler
Published 2019-08-01

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

by Emma K. Baker, Marta Arpone, Solange Aliaga Vera, Lesley Bretherton, Alexandra Ure, Claudine M. Kraan, Minh Bui, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael J. Field, Jonathan Cohen, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Published 2019-12-01

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

by Emma K. Baker, Marta Arpone, Solange M. Aliaga, Lesley Bretherton, Claudine M. Kraan, Minh Bui, Howard R. Slater, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael Field, Jonathan Cohen, Kim Cornish, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Published 2019-05-01