S
Sue Fyfe
Researcher at Curtin University
Publications - 53
Citations - 1520
Sue Fyfe is an academic researcher from Curtin University. The author has contributed to research in topics: Rett syndrome & Population. The author has an hindex of 21, co-authored 52 publications receiving 1395 citations. Previous affiliations of Sue Fyfe include Telethon Institute for Child Health Research.
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Journal ArticleDOI
Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
Ami Bebbington,Alison Anderson,David Ravine,Sue Fyfe,Mercedes Pineda,N H de Klerk,Bruria Ben-Zeev,N. Yatawara,Alan K. Percy,Walter E. Kaufmann,Helen Leonard +10 more
TL;DR: Although the modifying influence of X inactivation on clinical severity could not be included in the analysis, the findings confirm clear genotype–phenotype relationships in Rett syndrome and show the benefits of collaboration crucial to effective research in rare disorders.
Journal ArticleDOI
Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence
Amanda Jefferson,Helen Leonard,Aris Siafarikas,Helen J Woodhead,Sue Fyfe,Leanne M Ward,Leanne M Ward,Craig F Munns,Kathleen J. Motil,Kathleen J. Motil,Daniel C. Tarquinio,Jay R. Shapiro,Torkel B. Brismar,Bruria Ben-Zeev,Anne Marie Bisgaard,Giangennaro Coppola,Carolyn Ellaway,Carolyn Ellaway,Michael Freilinger,Suzanne Geerts,Peter Humphreys,Mary Jones,Jane B. Lane,Gunilla Larsson,Meir Lotan,Alan K. Percy,Mercedes Pineda,Mercedes Pineda,Steven A. Skinner,Birgit Syhler,Sue Thompson,Batia Weiss,Batia Weiss,Ingegerd Witt Engerström,Jenny Downs,Jenny Downs +35 more
TL;DR: These evidence and consensus-based guidelines have the potential to improve bone health in those with Rett syndrome, reduce the frequency of fractures, and stimulate further research that aims to ameliorate the impacts of this serious comorbidity.
Journal ArticleDOI
Describing the phenotype in Rett syndrome using a population database.
Lyn Colvin,Sue Fyfe,S Leonard,T Schiavello,Carolyn Ellaway,N. H. de Klerk,John Christodoulou,Michael E. Msall,Helen Leonard +8 more
TL;DR: Although all affected children are severely functionally dependent, it is still possible to identify some variation in ability, even in children with identified MECP2 mutations, as described in this descriptive epidemiology of Rett syndrome.
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Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
Helen Leonard,Lyn Colvin,John Christodoulou,T Schiavello,Sarah L. Williamson,Mark R. Davis,David Ravine,Sue Fyfe,N H de Klerk,T Matsuishi,I Kondo,Angus John Clarke,S Hackwell,Y Yamashita +13 more
TL;DR: Rett syndrome has now been shown to be associated with mutations in the methyl-CpG-binding protein 2 (MeCP2), and some research has found that people with missense MECP2 mutations may have a milder phenotype than those with truncating mutations.
Journal ArticleDOI
Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence
Jenny Downs,Anke Bergman,Philippa Carter,Alison Anderson,Greta M Palmer,David P. Roye,Harold J.P. van Bosse,Ami Bebbington,Eva Lena Larsson,Brian G. Smith,Gordon Baikie,Sue Fyfe,Helen Leonard +12 more
TL;DR: Evidence- and consensus-based guidelines for the clinical management of scoliosis in Rett syndrome have the potential to improve care of a complex comorbidity in a rare condition and stimulate research to improve the current limited evidence base.