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Susan M Downes
Researcher at John Radcliffe Hospital
Publications - 11
Citations - 153
Susan M Downes is an academic researcher from John Radcliffe Hospital. The author has contributed to research in topics: Retinitis pigmentosa & Open platform. The author has an hindex of 4, co-authored 11 publications receiving 75 citations. Previous affiliations of Susan M Downes include University of Oxford.
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Journal ArticleDOI
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
Suzanne E. de Bruijn,Alessia Fiorentino,Daniele Ottaviani,Stephanie Fanucchi,Uirá Souto Melo,Uirá Souto Melo,Julio C. Corral-Serrano,Timo W. F. Mulders,Michalis Georgiou,Michalis Georgiou,Carlo Rivolta,Carlo Rivolta,Nikolas Pontikos,Gavin Arno,Lisa Roberts,Jacquie Greenberg,Silvia Albert,Christian Gilissen,Marco Aben,George Rebello,Simon Mead,F. Lucy Raymond,Jordi Corominas,Claire E. L. Smith,Hannie Kremer,Susan M Downes,Graeme C.M. Black,Andrew R. Webster,Chris F. Inglehearn,L. Ingeborgh van den Born,Robert K. Koenekoop,Michel Michaelides,Raj Ramesar,Carel B. Hoyng,Stefan Mundlos,Stefan Mundlos,Musa M. Mhlanga,Frans P.M. Cremers,Michael E. Cheetham,Susanne Roosing,Alison J. Hardcastle +40 more
TL;DR: Altered TAD structure resulting in increased retinal expression of GDPD1 is the likely convergent mechanism of disease, consistent with a dominant gain of function, highlighting the importance of SVs as a genomic mechanism in unsolved Mendelian diseases.
Journal ArticleDOI
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
Nikolas Pontikos,Nikolas Pontikos,Jing Yu,Ismail Moghul,Lucy Withington,Fiona Blanco-Kelly,Fiona Blanco-Kelly,Tom Vulliamy,Tsz Lun Ernest Wong,Cian Murphy,Cian Murphy,Valentina Cipriani,Valentina Cipriani,Alessia Fiorentino,Gavin Arno,Gavin Arno,Daniel Greene,Julius O.B. Jacobsen,Tristan Clark,David S. Gregory,Andrea H. Németh,Stephanie Halford,Chris F. Inglehearn,Susan M Downes,Graeme C.M. Black,Andrew R. Webster,Andrew R. Webster,Alison J. Hardcastle,Ukirdc,Vincent Plagnol +29 more
TL;DR: Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases that integrates analysis tools such as variant filtering and gene prioritization based on phenotype.
Journal ArticleDOI
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.
Saoud Al-Khuzaei,Suzanne Broadgate,Stephanie Halford,Jasleen K Jolly,Morag Shanks,Penny Clouston,Susan M Downes +6 more
TL;DR: A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having NR2E3 mutations was performed, finding three patients share some of the typical distinctive features of NR2 E3 retinopathies, as well as a novel clinical observation of foveal ellipsoid thickening.
Journal ArticleDOI
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
Saoud Al-Khuzaei,Suzanne Broadgate,Charlotte R Foster,Mital Shah,Jing Yu,Susan M Downes,Stephanie Halford +6 more
TL;DR: In this paper, the authors provide an update on the current status of genotyping in ABCA4 and the status of the therapeutic approaches being investigated, including pharmacological, gene-based, and cell replacement-based therapies.
Journal ArticleDOI
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial
Laura Kuehlewein,Ditta Zobor,Sten Andréasson,Carmen Ayuso,Sandro Banfi,Béatrice Bocquet,Antje S Bernd,Saskia Biskup,Camiel J. F. Boon,Camiel J. F. Boon,Susan M Downes,M. Dominik Fischer,Frank G. Holz,Ulrich Kellner,Bart P. Leroy,Isabelle Meunier,Fadi Nasser,Thomas Rosenberg,Günther Rudolph,Katarina Stingl,Alberta A H J Thiadens,Barbara Wilhelm,Bernd Wissinger,Eberhart Zrenner,Susanne Kohl,Nicole Weisschuh +25 more
TL;DR: Clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa associated with biallelic sequence variations in the PDE6A gene in preparation for a gene supplementation trial were assessed.