D. Godler

发表

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

C. Dissanayake, D. Francis, D. Amor, 2018, Scientific Reports.

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

D. Amor, L. Bretherton, C. Rogers, 2018, Journal of Neurodevelopmental Disorders.

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms

D. Loesch, R. Huggins, M. Khaniani, 2009, American journal of medical genetics. Part A.

Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation

S. Lord, J. Trollor, W. Wen, 2017, Neurobiology of Aging.

The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia

J. Slee, D. Amor, S. Arora, 2021, Journal of Autism and Developmental Disorders.

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

Q. Bui, K. Cornish, H. Slater, 2018, PloS one.

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women

M. Bellgrove, J. Trollor, Q. Bui, 2015, Neurology.

Parathyroid hormone-related peptide expression in rat collagen-induced arthritis.

D. Godler, O. Bakharevski, P. Ryan, 2005, Rheumatology.

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

M. Field, D. Francis, D. Amor, 2020, International journal of molecular sciences.

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

M. Delatycki, D. Francis, D. Amor, 2021, American journal of medical genetics. Part A.

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

T. Dudding-Byth, D. Phelan, M. Field, 2019, International journal of molecular sciences.

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

J. Hopper, C. Skinner, C. Schwartz, 2015, Expert Reviews in Molecular Medicine.

Methylation analysis in newborn screening for fragile X syndrome.

D. Amor, H. Slater, D. Godler, 2014, JAMA Neurology.

Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.

J. Slee, D. Amor, S. Hearps, 2022, Research in developmental disabilities.

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)

M. Field, K. Kumar, C. Kraan, 2021, Journal of Medical Genetics.

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

V. Faundes, M. Field, D. Francis, 2022, American journal of medical genetics. Part A.

Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program

M. Delatycki, D. Francis, Dinusha Gamage, 2021, American journal of medical genetics. Part A.

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

S. A. Vera, V. Faundes, Alexandra Ure, 2019, Journal of Neurodevelopmental Disorders.

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

D. Amor, L. Bretherton, C. Rogers, 2018, Journal of Neurodevelopmental Disorders.

White matter microstructure, cognition, and molecular markers in fragile X premutation females

Q. Bui, J. Fielding, K. Cornish, 2017, Neurology.

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

Q. Bui, K. Cornish, H. Slater, 2016, Scientific Reports.

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.

D. Loesch, G. Kinsella, J. Hopper, 2012, Clinical chemistry.

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.

D. Loesch, J. Hopper, C. Skinner, 2014, Clinical chemistry.

Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females

Q. Bui, J. Fielding, M. Clough, 2016, Translational Psychiatry.

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

S. A. Vera, V. Faundes, Alexandra Ure, 2019, Journal of Neurodevelopmental Disorders.

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

D. Loesch, F. Tassone, R. Hagerman, 2010, Human molecular genetics.

Improved Methodology for Assessment of mRNA Levels in Blood of Patients with FMR1 Related Disorders

D. Loesch, R. Huggins, L. Gordon, 2009, BMC clinical pathology.

Estimating the impact of Angelman syndrome on parental productivity in Australia using productivity-adjusted life years.

E. Baker, D. Godler, S. Hartmanis, 2022, Disability and health journal.

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

D. Francis, Dinusha Gamage, R. Sachdev, 2021, Genes.

Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing

D. Francis, D. Amor, C. Hensel, 2019, Scientific Reports.

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

Z. Stark, D. Francis, E. Baker, 2019, Genes.

Epigenetics of fragile X syndrome and fragile X‐related disorders

D. Amor, C. Kraan, D. Godler, 2018, Developmental medicine and child neurology.

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.

D. Loesch, J. Hopper, C. Skinner, 2013, Human molecular genetics.

D. Loesch, J. Hopper, C. Skinner, 2012, Genetics in Medicine.

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.

D. Loesch, J. Hopper, Q. Bui, 2011, The Journal of molecular diagnostics : JMD.

FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome

V. Faundes, Alexandra Ure, M. Field, 2020, Scientific Reports.

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

V. Faundes, K. Cornish, M. Field, 2019, Molecular Autism.

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report

D. Francis, R. Heard, H. Slater, 2016, American journal of medical genetics. Part A.

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

D. Francis, R. Heard, H. Slater, 2016, Genes.

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

D. Loesch, A. Venn, G. Kinsella, 2011, Genetics in Medicine.

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

C. Dissanayake, D. Francis, D. Amor, 2018, Scientific Reports.

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

C. Skinner, M. Butler, M. Field, 2022, JAMA network open.

DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders.

D. Amor, D. Godler, 2019, Essays in biochemistry.

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.

V. Faundes, D. Francis, D. Amor, 2016, Clinical chemistry.

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction

Z. Stark, D. Francis, H. Slater, 2015, American journal of medical genetics. Part A.

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

J. Slee, M. Butler, M. Field, 2020, Translational Psychiatry.

Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction

M. Fahey, D. Francis, M. Hunter, 2018, Genes.

Productivity burden borne by the parents of persons with Angelman syndrome

D. Liew, E. Baker, D. Godler, 2021, medRxiv.

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Q. Bui, S. Metcalfe, D. Francis, 2018, Genetics in Medicine.

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Q. Bui, S. Metcalfe, D. Francis, 2018, Genetics in Medicine.

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome

D. Loesch, D. Amor, H. Slater, 2010, Genetics in Medicine.

Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.

T. Dudding-Byth, A. Sadhwani, W. Tan, 2022, European journal of medical genetics.

Growth Trajectories in Genetic Subtypes of Prader–Willi Syndrome

D. Amor, M. Moreno-Betancur, S. Reid, 2020, Genes.

Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome

J. Trollor, W. Wen, N. Georgiou-Karistianis, 2018, Brain Imaging and Behavior.

Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome

J. Trollor, W. Wen, N. Georgiou-Karistianis, 2018, Brain Imaging and Behavior.

Selective subcortical contributions to gait impairments in males with the FMR1 premutation

S. Lord, J. Trollor, W. Wen, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males

J. Trollor, W. Wen, N. Georgiou-Karistianis, 2015, Genes, brain, and behavior.

Delineation of the working memory profile in female FMR1 premutation carriers: The effect of cognitive load on ocular motor responses

J. Fielding, M. Clough, K. Cornish, 2015, Behavioural Brain Research.

Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023

W. Brown, D. Godler, 2023, Genes.

Analysis of the Prader–Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing

M. Butler, D. Francis, W. Hossain, 2019, Molecular genetics & genomic medicine.

Feasibility of wearable technology for 'real-world' gait analysis in children with Prader-Willi and Angelman syndromes.

M. Sangeux, D. Amor, C. Kraan, 2022, Journal of intellectual disability research : JIDR.

Special Issue: Genetics of Prader–Willi Syndrome

M. Butler, D. Godler, 2021, Genes.

Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation

J. Bradshaw, J. Trollor, Q. Bui, 2015, Neurobiology of Aging.

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

C. Skinner, D. Francis, D. Amor, 2023, International journal of molecular sciences.

Parathyroid hormone-related peptide expression in rat collagen-induced arthritis.

D. Godler, O. Bakharevski, P. Ryan, 2005, Rheumatology.

Tobacco product use and smoking frequency among US adults with intellectual and developmental disabilities

H. Slater, L. Bretherton, C. Kraan, 2018, Journal of intellectual disability research : JIDR.

Umbilical Cord Blood Cell Clearance Post-Infusion in Immune-Competent Children with Cerebral Palsy

P. Colditz, I. Novak, D. Reddihough, 2022, Cells Tissues Organs.