Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome
Godler, David E., Inaba, Yoshimi, Bui, Minh Q., Francis, David, Skinner, Cindy, Schwartz, Charles E., Amor, David J.
Published in International journal of molecular sciences (01.07.2023)
Published in International journal of molecular sciences (01.07.2023)
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DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome
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
Published in International journal of molecular sciences (19.10.2020)
Published in International journal of molecular sciences (19.10.2020)
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Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing
Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K, Aliaga, Solange M, Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G, Palmer, Elizabeth E, Amor, David J, Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E
Published in International journal of molecular sciences (11.08.2019)
Published in International journal of molecular sciences (11.08.2019)
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Journal Article
β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies
Kraan, Claudine M, Cornish, Kim M, Bui, Quang M, Li, Xin, Slater, Howard R, Godler, David E
Published in PloS one (23.02.2018)
Published in PloS one (23.02.2018)
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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
Pandelache, Alison, Francis, David, Oertel, Ralph, Dickson, Rebecca, Sachdev, Rani, Ling, Ling, Gamage, Dinusha, Godler, David E.
Published in Genes (01.06.2021)
Published in Genes (01.06.2021)
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Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
Baker, Emma K, Godler, David E, Bui, Minh, Hickerton, Chriselle, Rogers, Carolyn, Field, Mike, Amor, David J, Bretherton, Lesley
Published in Journal of neurodevelopmental disorders (06.08.2018)
Published in Journal of neurodevelopmental disorders (06.08.2018)
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Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
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
Published in Journal of neurodevelopmental disorders (26.12.2019)
Published in Journal of neurodevelopmental disorders (26.12.2019)
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Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation
Hocking, Darren R., PhD, Birch, Rachael C., PhD, Bui, Quang M., PhD, Menant, Jasmine C., PhD, Lord, Stephen R., PhD, Georgiou-Karistianis, Nellie, PhD, Godler, David E., PhD, Wen, Wei, PhD, Hackett, Anna, PhD, Rogers, Carolyn, Trollor, Julian N., MD
Published in Neurobiology of aging (01.02.2017)
Published in Neurobiology of aging (01.02.2017)
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Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
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
Published in Molecular autism (03.05.2019)
Published in Molecular autism (03.05.2019)
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Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome
Shepherd, Daisy A, Vos, Niels, Reid, Susan M, Godler, David E, Guzys, Angela, Moreno-Betancur, Margarita, Amor, David J
Published in Genes (02.07.2020)
Published in Genes (02.07.2020)
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Journal Article
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles
Pandelache, Alison, Baker, Emma K, Aliaga, Solange M, Arpone, Marta, Forbes, Robin, Stark, Zornitza, Francis, David, Godler, David E
Published in Genes (05.04.2019)
Published in Genes (05.04.2019)
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FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles
Godler, David E, Slater, Howard R, Bui, Quang M, Ono, Michele, Gehling, Freya, Francis, David, Amor, David J, Hopper, John L, Hagerman, Randi, Loesch, Danuta Z
Published in The Journal of molecular diagnostics : JMD (01.09.2011)
Published in The Journal of molecular diagnostics : JMD (01.09.2011)
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Epigenetics of fragile X syndrome and fragile X‐related disorders
Kraan, Claudine M, Godler, David E, Amor, David J
Published in Developmental medicine and child neurology (01.02.2019)
Published in Developmental medicine and child neurology (01.02.2019)
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Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS)
Martin, Ellenore M, Zhu, Ying, Kraan, Claudine M, Kumar, Kishore R, Godler, David E, Field, Michael
Published in Journal of medical genetics (01.07.2022)
Published in Journal of medical genetics (01.07.2022)
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The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia
Baker, Emma K., Arora, Sheena, Amor, David J., Date, Perrin, Cross, Meagan, O’Brien, James, Simons, Chloe, Rogers, Carolyn, Goodall, Stephen, Slee, Jennie, Cahir, Chris, Godler, David E.
Published in Journal of autism and developmental disorders (01.04.2023)
Published in Journal of autism and developmental disorders (01.04.2023)
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Umbilical Cord Blood Cell Clearance Post-Infusion in Immune-Competent Children with Cerebral Palsy
Crompton, Kylie, Godler, David E, Ling, Ling, Elwood, Ngaire, Mechinaud-Heloury, Francoise, Soosay Raj, Trisha, Hsiao, Kuang-Chih, Fleming, Jacqueline, Tiedemann, Karin, Novak, Iona, Fahey, Michael, Wang, Xiaofang, Lee, Katherine J, Colditz, Paul B, Edwards, Priya, Reddihough, Dinah
Published in Cells, tissues, organs (01.12.2023)
Published in Cells, tissues, organs (01.12.2023)
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