A
A Seller
Researcher at University of Oxford
Publications - 11
Citations - 1105
A Seller is an academic researcher from University of Oxford. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrial DNA depletion syndrome. The author has an hindex of 7, co-authored 11 publications receiving 1045 citations. Previous affiliations of A Seller include Wellcome Trust Centre for Human Genetics.
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Journal ArticleDOI
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
Stefano Colella,Christopher Yau,Jennifer M. Taylor,Ghazala Mirza,Helen Butler,Penny Clouston,Anne S. Bassett,A Seller,Christopher Holmes,Jiannis Ragoussis +9 more
TL;DR: QuantiSNP is a novel algorithm for high-resolution CNV/aneuploidy detection with application to clinical genetics, cancer and disease association studies and it is believed that the OB-HMM framework has widespread applicability in genomic research.
Journal ArticleDOI
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Andrea H. Németh,Andrea H. Németh,Andrea H. Németh,Alexandra Kwasniewska,Alexandra Kwasniewska,Stefano Lise,Ricardo P Schnekenberg,Ricardo P Schnekenberg,Esther B. E. Becker,Katarzyna Bera,Morag Shanks,Lorna Gregory,David Buck,M. Zameel Cader,Kevin Talbot,Rajith de Silva,Nicholas A. Fletcher,Rob Hastings,Sandeep Jayawant,Patrick J. Morrison,PF Worth,Malcolm Taylor,John Tolmie,Mary O'Regan,Ruth Valentine,Emily Packham,Julie Evans,A Seller,Jiannis Ragoussis +28 more
TL;DR: Genetic testing using targeted capture followed by next-generation sequencing was efficient, cost-effective, and enabled a molecular diagnosis in many refractory cases and has broad implications for clinical neurology practice and the approach to diagnostic testing.
Journal ArticleDOI
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Morag Shanks,Susan M. Downes,Susan M. Downes,Richard R. Copley,Stefano Lise,John Broxholme,Karl A. Z. Hudspith,Alexandra Kwasniewska,Alexandra Kwasniewska,Wayne I. L. Davies,Wayne I. L. Davies,Mark W. Hankins,Emily Packham,Penny Clouston,A Seller,Andrew O.M. Wilkie,Jenny C. Taylor,Jiannis Ragoussis,Andrea H. Németh,Andrea H. Németh,Andrea H. Németh +20 more
TL;DR: It is concluded that targeted capture and next-generation sequencing are likely to be very useful in a diagnostic setting, but patients with earlier onset of disease are more likely to benefit from using this strategy.
Journal ArticleDOI
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO
Carl Fratter,Grainne S. Gorman,Joanna Stewart,M Buddles,C Smith,J Evans,A Seller,Joanna Poulton,Mark E Roberts,Michael G. Hanna,S Rahman,S.E. Omer,Thomas Klopstock,Benedikt Schoser,Cornelia Kornblum,Birgit Czermin,Bryan Lecky,Emma L. Blakely,Kate Craig,Patrick F. Chinnery,Douglass M. Turnbull,Rita Horvath,Robert W. Taylor +22 more
TL;DR: The data suggest a shared clinical phenotype with variable mild multiorgan involvement, and that the contribution of PEO1 mutations as a cause of adPEO may well be underestimated.
Journal ArticleDOI
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
Johanna Uusimaa,J Evans,C Smith,Anna Butterworth,Kate Craig,Neil Ashley,C Liao,Janet Carver,Alan Diot,L Macleod,Iain P. Hargreaves,Abdulrahman Al-Hussaini,Eissa Faqeih,Ali Asery,M. Al Balwi,Wafaa Eyaid,A Al-Sunaid,DA Kelly,I.D.M. van Mourik,Sarah Ball,J Jarvis,A Mulay,Nedim Hadzic,Marianne Samyn,Alastair Baker,Shamima Rahman,Helen Stewart,Aam Morris,A Seller,Carl Fratter,Robert W. Taylor,Joanna Poulton +31 more
TL;DR: It is found that a severe clinical phenotype was associated with profound tissue-specific mtDNA depletion in liver, and, in some cases, mosaic mt DNA depletion in fibroblasts, the first demonstration of mosaic mtDNA depleted in human MPV17 mutant fibroblast cultures.