Carl Fratter - NHS Highly Specialised Serv Rare Mitochondrial Di, Oxford Univ Hosp NHS Fdn Trust

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Papers共 122 篇Author StatisticsCo-AuthorSimilar Experts

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Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome

Eszter Dombi, Tony Marinaki,Paolo Spingardi,Val Millar, Nastasia Hadjichristou,Janet Carver,Iain G. Johnston,Carl Fratter,Joanna Poulton

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY（2024）

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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Alistair T. Pagnamenta,Jing Yu,Susan Walker, Alexandra J. Noble,Jenny Lord, Prasun Dutta,Mona Hashim,Carme Camps, Hannah Green, Smrithi Devaiah,Lina Nashef, Jason Parr,

The American Journal of Human Geneticsno. 6 (2024): 1140-1164

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Comprehensive functional characterisation of a novel ANO6 variant in a new patient with Scott Syndrome

Samantha J. Montague,Joshua Price, Katherine Pennycott, Natasha J. Pavey,Eleyna M. Martin, Isaac Thirlwell,Samuel Kemble, Catarina Monteiro, Lily Redmond-Motteram, Natalie Lawson, Katherine Reynolds,Carl Fratter,

Journal of Thrombosis and Haemostasis (2024)

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Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome

Samantha J Montague,Joshua Price, Katherine Pennycott, Natasha J Pavey,Eleyna M Martin, Isaac Thirlwell,Samuel Kemble, Catarina Monteiro, Lily Redmond-Motteram, Natalie Lawson, Katherine Reynolds,Carl Fratter,

Journal of thrombosis and haemostasis : JTH (2024)

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Use of whole genome sequencing to determine the genetic basis of suspected mitochondrial disorders

Katherine Schon,Rita Horvath,Wei Wei,Claudia Calabrese,Arianna Tucci,Kristina Ibanez,Thiloka Ratnaike,Robert Pitceathly,Enrico Bugiardini,Ros Quinlivan,Michael Hanna,Emma Clement,

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 420-421

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The diagnostic utility of the R90 bleeding and platelet disorders panel: The west midlands experience

Eman Hassan, Afrah Alkhedir, Sandeep Potluri, Will Lester,Charles Percy,Patricia Bignell,Carl Fratter,Jayashree Motwani,Gill Lowe

BRITISH JOURNAL OF HAEMATOLOGY (2023): 26-27

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Thrombocytopenia does not always mean itp: a single centre experience

E. Hassan, C. Percy, W. Lester,P. Bignell,C. Fratter, G. Lowe

HAEMOPHILIA (2023): 169-170

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Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

Eleni Mavraki,Robyn Labrum,Kate Sergeant,Charlotte L. Alston,Cathy Woodward,Conrad Smith,Charlotte V. Y. Knowles,Yogen Patel, Philip Hodsdon, Jack P. Baines,Emma L. Blakely,James Polke,

EUROPEAN JOURNAL OF HUMAN GENETICSno. 2 (2022): 148-163

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Rare missense variants in Tropomyosin‐4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding

Rachel J Stapley,Natalie S Poulter,Abdullah O Khan,Christopher W Smith,Patricia Bignell,Carl Fratter,Will Lester,Gillian Lowe,Neil V Morgan

Journal of Thrombosis and Haemostasis（2022）

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Diagnostic outcomes from the R90 Bleeding and Platelet disorders next-generation sequencing panel in the first year of the NHS Genomic Medicine Service

Claire Lentaigne,Patricia Bignell,Nicola Curry,Carl Fratter,Dalia Khan,Gillian Lowe,Sarah Mangles,Andrew Mumford,Sarah Westbury

BRITISH JOURNAL OF HAEMATOLOGY（2022）

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