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

por Godler, David E., Brown, William T.
Publicado 2023

Special Issue: Genetics of Prader–Willi Syndrome

por Godler, David E., Butler, Merlin G.
Publicado 2021

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

por Hartin, Samantha N., Hossain, Waheeda A., Francis, David, Godler, David E., Barkataki, Sangjucta, Butler, Merlin G.
Publicado 2019

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

por Kraan, Claudine M., Cornish, Kim M., Bui, Quang M., Li, Xin, Slater, Howard R., Godler, David E.
Publicado 2018

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

por Pandelache, Alison, Francis, David, Oertel, Ralph, Dickson, Rebecca, Sachdev, Rani, Ling, Ling, Gamage, Dinusha, Godler, David E.
Publicado 2021

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

por Godler, David E., Inaba, Yoshimi, Bui, Minh Q., Francis, David, Skinner, Cindy, Schwartz, Charles E., Amor, David J.
Publicado 2023

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

por Baker, Emma K., Godler, David E., Bui, Minh, Hickerton, Chriselle, Rogers, Carolyn, Field, Mike, Amor, David J., Bretherton, Lesley
Publicado 2018

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

por Pandelache, Alison, Baker, Emma K, Aliaga, Solange M., Arpone, Marta, Forbes, Robin, Stark, Zornitza, Francis, David, Godler, David E.
Publicado 2019

Growth Trajectories in Genetic Subtypes of Prader–Willi Syndrome

por Shepherd, Daisy A., Vos, Niels, Reid, Susan M., Godler, David E., Guzys, Angela, Moreno-Betancur, Margarita, Amor, David J.
Publicado 2020

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

por Godler, David E, Loesch, Danuta Z, Huggins, Richard, Gordon, Lavinia, Slater, Howard R, Gehling, Freya, Burgess, Trent, Choo, KH Andy
Publicado 2009

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

por Prawer, Yael, Hunter, Matthew, Cronin, Sara, Ling, Ling, Aliaga Vera, Solange, Fahey, Michael, Gelfand, Nikki, Oertel, Ralph, Bartlett, Essra, Francis, David, Godler, David
Publicado 2018

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

por Hwang, Yun Tae, Dudding, Tracy, Aliaga, Solange Mabel, Arpone, Marta, Francis, David, Li, Xin, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, du Sart, Desirée, Heard, Robert, Godler, David Eugeny
Publicado 2016

Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68

por Hwang, Yun Tae, Dudding, Tracy, Aliaga, Solange Mabel, Arpone, Marta, Francis, David, Li, Xin, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, du Sart, Desirée, Heard, Robert, Godler, David Eugeny
Publicado 2017

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

por Baker, Emma K., Butler, Merlin G., Hartin, Samantha N., Ling, Ling, Bui, Minh, Francis, David, Rogers, Carolyn, Field, Michael J., Slee, Jennie, Gamage, Dinusha, Amor, David J., Godler, David E.
Publicado 2020

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

por Hensel, Charles H., Vanzo, Rena J., Martin, Megan M., Ling, Ling, Aliaga, Solange M., Bui, Minh, Francis, David I., Twede, Hope, Field, Michael H., Morison, Jonathon W., Amor, David J., Godler, David E.
Publicado 2019

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

por Godler, David E., Inaba, Yoshimi, Schwartz, Charles E., Bui, Quang M., Shi, Elva Z., Li, Xin, Herlihy, Amy S., Skinner, Cindy, Hagerman, Randi J., Francis, David, Amor, David J., Metcalfe, Sylvia A., Hopper, John L., Slater, Howard R.
Publicado 2015

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

por Field, Michael, Dudding-Byth, Tracy, Arpone, Marta, Baker, Emma K., Aliaga, Solange M., Rogers, Carolyn, Hickerton, Chriselle, Francis, David, Phelan, Dean G., Palmer, Elizabeth E., Amor, David J., Slater, Howard, Bretherton, Lesley, Ling, Ling, Godler, David E.
Publicado 2019

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

por Kraan, Claudine M, Baker, Emma K, Arpone, Marta, Bui, Minh, Ling, Ling, Gamage, Dinusha, Bretherton, Lesley, Rogers, Carolyn, Field, Michael J, Wotton, Tiffany L, Francis, David, Hunter, Matt F, Cohen, Jonathan, Amor, David J, Godler, David E
Publicado 2020

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

por Arpone, Marta, Baker, Emma K., Bretherton, Lesley, Bui, Minh, Li, Xin, Whitaker, Simon, Dissanayake, Cheryl, Cohen, Jonathan, Hickerton, Chriselle, Rogers, Carolyn, Field, Mike, Elliott, Justine, Aliaga, Solange M., Ling, Ling, Francis, David, Hearps, Stephen J. C., Hunter, Matthew F., Amor, David J., Godler, David E.
Publicado 2018

FMR1 mRNA from full mutation alleles is associated with ABC-C(FX) scores in males with fragile X syndrome

por Baker, Emma K., Arpone, Marta, Kraan, Claudine, Bui, Minh, Rogers, Carolyn, Field, Michael, Bretherton, Lesley, Ling, Ling, Ure, Alexandra, Cohen, Jonathan, Hunter, Matthew F., Santa María, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David J., Godler, David E.
Publicado 2020