Publications by authors named "David E Godler"

35Publications

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

Transl Psychiatry 2020 Oct 29;10(1):362. Epub 2020 Oct 29.

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1038/s41398-020-01034-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7595031PMC
October 2020

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome.

Genes (Basel) 2020 Jul 2;11(7). Epub 2020 Jul 2.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, Australia.

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http://dx.doi.org/10.3390/genes11070736DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397071PMC
July 2020

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

Essays Biochem 2019 12;63(6):785-795

Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia.

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http://dx.doi.org/10.1042/EBC20190056DOI Listing
December 2019

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

Genes (Basel) 2019 04 5;10(4). Epub 2019 Apr 5.

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.

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http://dx.doi.org/10.3390/genes10040279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523498PMC
April 2019

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

Mol Genet Genomic Med 2019 04 21;7(4):e00575. Epub 2019 Feb 21.

Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas.

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http://doi.wiley.com/10.1002/mgg3.575
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http://dx.doi.org/10.1002/mgg3.575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465664PMC
April 2019

Epigenetics of fragile X syndrome and fragile X-related disorders.

Dev Med Child Neurol 2019 02 7;61(2):121-127. Epub 2018 Aug 7.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/dmcn.13985DOI Listing
February 2019

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

J Neurodev Disord 2018 08 6;10(1):24. Epub 2018 Aug 6.

Child Neuropsychology, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.

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http://dx.doi.org/10.1186/s11689-018-9242-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6091196PMC
August 2018

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

Brain Imaging Behav 2019 Aug;13(4):1128-1134

Department of Developmental Disability Neuropsychiatry, School of Psychiatry, UNSW Sydney, 34 Botany Street, Sydney, NSW, 2052, Australia.

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http://dx.doi.org/10.1007/s11682-018-9928-7DOI Listing
August 2019

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

Genet Med 2018 12 29;20(12):1627-1634. Epub 2018 Mar 29.

Cyto-Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1038/gim.2018.52DOI Listing
December 2018

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

PLoS One 2018 23;13(2):e0192151. Epub 2018 Feb 23.

Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0192151PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825026PMC
March 2018

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

Neurobiol Aging 2017 02 15;50:5-12. Epub 2016 Oct 15.

Department of Developmental Disability Neuropsychiatry, School of Psychiatry, UNSW Australia, Sydney, Australia; Centre for Healthy Brain Ageing, School of Psychiatry, UNSW Australia, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.10.017DOI Listing
February 2017

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

J Neurol Neurosurg Psychiatry 2017 02 28;88(2):188-190. Epub 2016 Sep 28.

Department of Developmental Disability Neuropsychiatry, School of Psychiatry, UNSW Australia, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1136/jnnp-2016-313937DOI Listing
February 2017

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

Clin Chem 2016 Feb 29;62(2):343-52. Epub 2015 Dec 29.

Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia;

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http://dx.doi.org/10.1373/clinchem.2015.244681DOI Listing
February 2016

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

Expert Rev Mol Med 2015 Jul 1;17:e13. Epub 2015 Jul 1.

Cyto-molecular Diagnostic Research Laboratory,Victorian Clinical Genetics Services and Murdoch Children's Research Institute,Royal Children's Hospital,Melbourne,Victoria,3052,Australia.

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http://dx.doi.org/10.1017/erm.2015.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836209PMC
July 2015

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.

Am J Med Genet A 2015 Oct 18;167A(10):2485-7. Epub 2015 May 18.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37163DOI Listing
October 2015

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

Neurology 2015 Apr 25;84(16):1631-8. Epub 2015 Mar 25.

From the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409583PMC
April 2015

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

Behav Brain Res 2015 Apr 13;282:194-200. Epub 2015 Jan 13.

School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.bbr.2015.01.011DOI Listing
April 2015

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

Neurobiol Aging 2015 Mar 26;36(3):1400-8. Epub 2014 Nov 26.

School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.11.012DOI Listing
March 2015

Methylation analysis in newborn screening for fragile X syndrome.

JAMA Neurol 2014 Jun;71(6):800

The Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne/Parkville, Victoria, Australia.

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http://dx.doi.org/10.1001/jamaneurol.2014.142DOI Listing
June 2014

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

Clin Chem 2014 Jul 28;60(7):963-73. Epub 2014 Apr 28.

Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia;

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http://dx.doi.org/10.1373/clinchem.2013.217331DOI Listing
July 2014

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

J Mol Diagn 2011 Sep 30;13(5):528-36. Epub 2011 Jun 30.

Victorian Clinical Genetic Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.jmoldx.2011.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157613PMC
September 2011

Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders.

BMC Clin Pathol 2009 Jun 9;9. Epub 2009 Jun 9.

Chromosome and Chromatin Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1186/1472-6890-9-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708186PMC
June 2009