David Godler

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

Sally L Hartmanis, Emma K Baker, David E Godler, Danny Liew

Journal article  |  2022  |  Disabil Health J

BACKGROUND: Angelman syndrome (AS) is a rare genetic condition characterized by global developmental delay, including severe intel..

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

Marta Arpone, Lesley Bretherton, David J Amor, Stephen JC Hearps, Carolyn Rogers, Michael J Field, Matthew F Hunter, Lorena Santa Maria, Angelica M Alliende, Jennie Slee, David E Godler, Emma K Baker

Journal article  |  2022  |  RESEARCH IN DEVELOPMENTAL DISABILITIES

BACKGROUND: Despite the increasing number of clinical trials involving children with neurodevelopmental disorders, appropriate and..

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

Emma K Baker, Marta Arpone, Bui Minh, Claudine M Kraan, Ling Ling, David Francis, Mathew F Hunter, Carolyn Rogers, Michael J Field, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M Alliende, David J Amor, David E Godler

Journal article  |  2022  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]..

Umbilical cord blood cell clearance post-infusion in immune competent children with cerebral palsy

Kylie Crompton, David E Godler, Ling Ling, Ngaire Elwood, Francoise Mechinaud-Heloury, Trisha Soosay Raj, Kuang-Chih Hsiao, Jacqueline Fleming, Karin Tiedemann, Iona Novak, Michael C Fahey, Xiaofang Wang, Katherine J Lee, Paul BB Colditz, Priya Edwards, Dinah Reddihough

Journal article  |  2022  |  CELLS TISSUES ORGANS

Umbilical cord blood cells have therapeutic potential for neurological disorders, through a paracrine mechanism of action. A great..

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

CM Kraan, P Date, A Rattray, M Sangeux, QM Bui, EK Baker, J Morison, DJ Amor, DE Godler

Journal article  |  2022  |  JOURNAL OF INTELLECTUAL DISABILITY RESEARCH

BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders in need of innovative 'real-wo..

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

Emma K Baker, Catherine F Merton, Wen-Hann Tan, Tracy Dudding-Byth, David E Godler, Anjali Sadhwani

Journal article  |  2022  |  Eur J Med Genet

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by loss of expression of the maternally-inherited UBE3A on c..

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

David E Godler, Ling Ling, Dinusha Gamage, Emma K Baker, Minh Bui, Michael J Field, Carolyn Rogers, Merlin G Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E Schwartz, Cindy D Skinner, Angelica M Alliende, Lorena Santa Maria, James Pitt, Ronda Greaves, David Francis, Ralph Oertel, Min Wang, et al.

Journal article  |  2022  |  JAMA NETWORK OPEN

IMPORTANCE: Newborn screening for Angelman syndrome (AS), Prader-Willi syndrome (PWS), and chromosome 15 duplication syndrome (Dup..

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

Essra Bartlett, Alison D Archibald, David Francis, Ling Ling, Rob Thomas, Gabrielle Chandler, Lisa Ward, Gemma O'Farrell, Alison Pandelache, Martin B Delatycki, Bruce H Bennetts, Gladys Ho, Katrina Fisk, Emma K Baker, David J Amor, David E Godler

Journal article  |  2021  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The FMR1 premutation (PM:55-199 CGG) is associated with fragile X-associated tremor/ataxia syndrome (FXTAS) and when maternally tr..

WEARABLE DIGITAL GAIT-BASED OUTCOME MEASURES FOR CHILDREN WITH FRAGILE X, PRADER-WILLI AND ANGELMAN SYNDROMES

CM Kraan, P Date, EK Date, A Rattray, M Sangeux, DJ Amor, DE Godler

Conference Proceedings  |  2021  |  JOURNAL OF INTELLECTUAL DISABILITY RESEARCH

Special Issue: Genetics of Prader-Willi Syndrome

David E Godler, Merlin G Butler

Journal article  |  2021  |  GENES

This Special Issue includes 15 peer-reviewed articles for publication by experts in Prader-Willi syndrome (PWS) and their reflecti..