Dr. David Godler
Honorary
Paediatrics Royal Children'S Hospital
19 Scholarly works
0 Projects
HIGHLIGHTS
2020
Journal article
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders
DOI: 10.1038/s41398-020-01034-72020
Journal article
FMR1 mRNA from full mutation alleles is associated with ABC-C-FX scores in males with fragile X syndrome
DOI: 10.1038/s41598-020-68465-62020
Journal article
Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome
DOI: 10.3390/genes110707362019
Journal article
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
DOI: 10.1186/s11689-019-9288-72019
Journal article
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a USA Patient Cohort Referred for Fragile X Testing
DOI: 10.1038/s41598-019-51618-72019
Conference Proceedings
INCOMPLETE SILENCING OF FULL MUTATION ALLELES IN MALES WITH FRAGILE X SYNDROME IS ASSOCIATED WITH AUTISTIC FEATURES
2019
Journal article
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing
DOI: 10.3390/ijms20163907
RECENT SCHOLARLY WORKS
2019
Journal article
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
DOI: 10.1186/s13229-019-0271-72019
Journal article
Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles
DOI: 10.3390/genes100402792019
Journal article
Epigenetics of fragile X syndrome and fragile X-related disorders
DOI: 10.1111/dmcn.139852019
Journal article
DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders
DOI: 10.1042/EBC201900562018
Journal article
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts
DOI: 10.1038/gim.2018.522018
Journal article
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
DOI: 10.1186/s11689-018-9242-02018
Conference Proceedings
FMRI ALLELE SIZE DISTRIBUTION IN 35 000 MALES AND FEMALES: A COMPARISON OF DEVELOPMENTAL DELAY AND GENERAL POPULATION COHORTS
2018
Conference Proceedings
FMR1 MRNA IN BLOOD AS A PREDICTOR OF INTELLECTUAL FUNCTIONING AND AUTISM SEVERITY IN FRAGILE X SYNDROME: IS THERE A DIFFERENCE BETWEEN SEXES?