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Alexandra Kwasniewska
Researcher at University of Oxford
Publications - 3
Citations - 371
Alexandra Kwasniewska is an academic researcher from University of Oxford. The author has contributed to research in topics: Spinocerebellar ataxia & Ataxia. The author has an hindex of 3, co-authored 3 publications receiving 347 citations. Previous affiliations of Alexandra Kwasniewska include Wellcome Trust Centre for Human Genetics.
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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
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.
Stefano Lise,Yvonne L. Clarkson,Emma M. Perkins,Alexandra Kwasniewska,Elham Sadighi Akha,Ricardo P Schnekenberg,Daumante Suminaite,Jilly Hope,Ian Baker,Lorna Gregory,Angie Green,Chris Allan,Sarah Lamble,Sandeep Jayawant,Gerardine Quaghebeur,M. Zameel Cader,Sarah Hughes,Richard J. E. Armstrong,Alexander Kanapin,Andrew J. Rimmer,Gerton Lunter,Iain Mathieson,Jean-Baptiste Cazier,David Buck,Jenny C. Taylor,David Bentley,Gilean McVean,Peter Donnelly,Samantha J. L. Knight,Mandy Jackson,Jiannis Ragoussis,Andrea H. Németh +31 more
TL;DR: It is concluded that cognitive impairment is an integral part of this novel recessive ataxic syndrome, Spectrin-associated Autosomal Recessive Cerebellar Ataxia type 1 (SPARCA1), which includes SCA5, SPARCA 1, and a form of West syndrome.