Stephanie Barton
Central Manchester University Hospitals NHS Foundation Trust
14 Papers
33 Citations
Stephanie Barton is an academic researcher from Central Manchester University Hospitals NHS Foundation Trust. The author has contributed to research in topics: Genetic testing & Genetic heterogeneity. The author has an hindex of 8, co-authored 12 publications. Previous affiliations of Stephanie Barton include St Mary's Hospital.
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Papers
Molecular findings from 537 individuals with inherited retinal disease
Jamie M Ellingford,Jamie M Ellingford,Stephanie Barton,Sanjeev S. Bhaskar,James O'Sullivan,James O'Sullivan,Simon G. Williams,Janine A. Lamb,Binay Panda,Panagiotis I. Sergouniotis,Panagiotis I. Sergouniotis,Rachel L. Gillespie,Rachel L. Gillespie,Stephen P. Daiger,Georgina Hall,Theodora Gale,I. Christopher Lloyd,I. Christopher Lloyd,Paul N. Bishop,Paul N. Bishop,Simon C Ramsden,Graeme C.M. Black,Graeme C.M. Black +22 more
TL;DR: It is shown that clinically analysed variants indicated as rare in dbSNP and the Exome Variant Server remain rare in ExAC, and that genes discovered as a cause of IRD in the post-NGS era are rare causes ofIRD in a population of clinically surveyed individuals.
166
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
Jamie M Ellingford,Stephanie Barton,Sanjeev S. Bhaskar,Simon G. Williams,Panagiotis I. Sergouniotis,James O'Sullivan,James O'Sullivan,Janine A. Lamb,Rahat Perveen,Rahat Perveen,Georgina Hall,William G. Newman,William G. Newman,Paul N. Bishop,Stephen A Roberts,Rick Leach,Rick Tearle,Stuart Bayliss,Simon C Ramsden,Andrea H. Németh,Graeme C.M. Black,Graeme C.M. Black +21 more
TL;DR: It is shown that WGS methods can detect disease-causing genetic variants missed by current NGS diagnostic methodologies for IRD and thereby demonstrate the clinical utility and additional value of WGS.
144
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Jamie M Ellingford,Bradley Horn,Christopher Campbell,Gavin Arno,Stephanie Barton,Catriona Tate,Sanjeev S. Bhaskar,Panagiotis I. Sergouniotis,Rachel L. Taylor,Keren J. Carss,Lucy Raymond,Michel Michaelides,Michel Michaelides,Simon C Ramsden,Andrew R. Webster,Andrew R. Webster,Graeme C.M. Black +16 more
TL;DR: It is shown that at least 7% of individuals referred for diagnostic testing for IRD have a CNV within genes relevant to their clinical diagnosis, and a positive predictive value is determined for the employed CNV filtering techniques.
66
A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.
Kristiina Avela,Eeva-Marja Sankila,Sanna Seitsonen,Liina Kuuluvainen,Stephanie Barton,Stuart Gillies,Kristiina Aittomäki +6 more
TL;DR: To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients, a large number of patients with RD have had their eyes removed at some point in their lives.
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A clinical molecular genetic service for United Kingdom families with choroideraemia.
Simon C Ramsden,Anna O'Grady,Tracy Fletcher,James O'Sullivan,Nikki Hart-Holden,Stephanie Barton,Georgina Hall,Anthony T. Moore,Andrew R. Webster,Graeme C.M. Black +9 more
TL;DR: Clinical molecular testing for CHM is available clinically and can be used to support the clinical diagnosis and management of patients with choroideraemia as well as their families and the potential clinical utility of testing is demonstrated.
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