Characterization of a Novel Epigenetic Boundary and Long Range Epigenetic Modifications Specific to Fmr1 Expansion Carriers With Behavioural and Cognitive Disorders - Implications for Earlier Diagnosis and Treatment

Hexasomy of the 15q11q13 region: a detailed report and review of the literature

CYZ Chan, EK Baker, D Francis, K Milner, DJ Amor

2025-08-01

Hexasomy of the Prader-Willi/Angelman Syndrome Critical Region (PWASCR; chromosome 15q11-q13) is very rare with only 13 patients b..

High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems

C Cartagena, M Alshawsh, MQ Bui, D Gamage, RP Thakor, J Pitt, RF Greaves, M Wall, R Saffery, DJ Amor, DE Godler

2025-01-01

Aim: This study compared methylation-specific quantitative melt analysis of FMR1 and SNRPN methylation (mDNA) using automated bisu..

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns

M Alshawsh, M Wake, J Gecz, M Corbett, R Saffery, J Pitt, R Greaves, K Williams, M Field, J Cheong, M Bui, S Arora, S Sadedin, S Lunke, M Wall, DJ Amor, DE Godler

2024-01-01

This study describes a protocol to assess a novel workflow called Epi-Genomic Newborn Screening (EpiGNs) on 100,000 infants from t..

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

Emma K Baker, Sheena Arora, David J Amor, Perrin Date, Meagan Cross, James O'Brien, Chloe Simons, Carolyn Rogers, Stephen Goodall, Jennie Slee, Chris Cahir, David E Godler

2023-04-01

The study characterised differences in costs associated with raising a child between four rare disorders and examined the associat..

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

2023-02-01

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

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

M Arpone, L Bretherton, DJ Amor, SJC Hearps, C Rogers, MJ Field, MF Hunter, L Santa Maria, AM Alliende, J Slee, DE Godler, EK Baker

2022-12-01

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

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

2022-08-01

Abstract. Background: Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders in need of innovativ..

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16579 Newborns by Using a Novel Genomic Workflow

DE Godler, L Ling, D Gamage, EK Baker, M Bui, MJ Field, C Rogers, MG Butler, A Murgia, E Leonardi, R Polli, CE Schwartz, CD Skinner, AM Alliende, L Santa Maria, J Pitt, R Greaves, D Francis, R Oertel, M Wang

2022-01-04

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

E Bartlett, AD Archibald, D Francis, L Ling, R Thomas, G Chandler, L Ward, G O'Farrell, A Pandelache, MB Delatycki, BH Bennetts, G Ho, K Fisk, EK Baker, DJ Amor, DE Godler

2022-01-01

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

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

EK Baker, M Arpone, C Kraan, M Bui, C Rogers, M Field, L Bretherton, L Ling, A Ure, J Cohen, MF Hunter, L Santa María, V Faundes, B Curotto, P Morales, C Trigo, I Salas, A Alliende, DJ Amor, DE Godler

2020-12-01

Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR..

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

EK Baker, MG Butler, SN Hartin, L Ling, M Bui, D Francis, C Rogers, MJ Field, J Slee, D Gamage, DJ Amor, DE Godler

2020-12-01

Chromosome 15 (C15) imprinting disorders including Prader–Willi (PWS), Angelman (AS) and chromosome 15 duplication (Dup15q) syndro..

Dna methylation at birth predicts intellectual functioning and autism features in children with fragile x syndrome

CM Kraan, EK Baker, M Arpone, M Bui, L Ling, D Gamage, L Bretherton, C Rogers, MJ Field, TL Wotton, D Francis, MF Hunter, J Cohen, DJ Amor, DE Godler

2020-10-02

Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed ..

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

EK Baker, M Arpone, SA Vera, L Bretherton, A Ure, CM Kraan, M Bui, L Ling, D Francis, MF Hunter, J Elliott, C Rogers, MJ Field, J Cohen, LS Maria, V Faundes, B Curotto, P Morales, C Trigo, I Salas

2019-12-26

Background: Fragile X syndrome (FXS) is a common cause of intellectual disability and autism spectrum disorder (ASD) usually assoc..

Significantly elevated FMR1 mRNA and mosaicism for methylated premutation and full mutation alleles in two brothers with autism features referred for fragile X testing

M Field, T Dudding-Byth, M Arpone, EK Baker, SM Aliaga, C Rogers, C Hickerton, D Francis, DG Phelan, EE Palmer, DJ Amor, H Slater, L Bretherton, L Ling, DE Godler

2019-08-02

Although fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥200 cytosine-guanine-guanine (..

Clinical and Molecular differences between 4-year-old Monozygous male Twins mosaic for normal, Premutation and Fragile X full Mutation Alleles

A Pandelache, EK Baker, SM Aliaga, M Arpone, R Forbes, Z Stark, D Francis, DE Godler

2019-04-01

This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: <44 CGGs), premutation..

DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders

DE Godler, DJ Amor

2019-01-01

DNA methylation (mDNA) plays an important role in the pathogenesis of neurodevelopmental disorders (NDDs), however its use in diag..

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

Y Inaba, CE Schwartz, QM Bui, X Li, C Skinner, M Field, T Wotton, RJ Hagerman, D Francis, DJ Amor, JL Hopper, DZ Loesch, L Bretherton, HR Slater, DE Godler

2014-01-01

BACKGROUND: Standard fragile X syndrome (FXS) diagnostic tests that target methylation of the fragile X mental retardation 1 (FMR1..