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Emma L. Blakely

Newcastle upon Tyne Hospitals NHS Foundation Trust GB

142
Publications
8,663
Citations
48
H-Index
96
i10-Index
6.44
2yr Mean Cite
-
Cite/Paper
Data combined from OpenAlex . OA = OpenAlex S2 = Semantic Scholar
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Publication & Citation Trends

Most Cited Works

Prevalence of nuclear and mitochondrial <scp>DNA</scp> mutations related to adult mitochondrial disease OA
Gráinne S. Gorman, Andrew M. Schaefer, Yi Shiau Ng, Nicholas C. Gomez, Emma L. Blakely +8 more
Annals of Neurology 2015
930
Mitochondrial DNA mutations and human disease
Helen Tuppen, Emma L. Blakely, Douglass M. Turnbull, Robert W. Taylor
Biochimica et Biophysica Acta (BBA) - Bioenergetics 2009
682
Prevalence of mitochondrial DNA disease in adults
Andrew M. Schaefer, Robert McFarland, Emma L. Blakely, Langping He, Roger G. Whittaker +3 more
Annals of Neurology 2007
580
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance OA
Gavin Hudson, Patrizia Amati‐Bonneau, Emma L. Blakely, Joanna D. Stewart, Langping He +9 more
Brain 2007
419
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies OA
Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff +24 more
JAMA 2014
362

Publications

142 total

Recent advances in understanding the molecular genetic basis of mitochondrial disease PDF

Kyle Thompson, Jack J. Collier, Ruth I.C. Glasgow, Fiona Robertson, Angela Pyle et al. - Journal of Inherited Metabolic Disease, 2019
Cited by 170 OpenAlex

mt <scp>DNA</scp> heteroplasmy level and copy number indicate disease burden in m.3243A&gt;G mitochondrial disease PDF

John P. Grady, Sarah J. Pickett, Yi Shiau Ng, Charlotte L. Alston, Emma L. Blakely et al. - EMBO Molecular Medicine, 2018
Cited by 283 OpenAlex

Prevalence of nuclear and mitochondrial <scp>DNA</scp> mutations related to adult mitochondrial disease PDF

Gráinne S. Gorman, Andrew M. Schaefer, Yi Shiau Ng, Nicholas C. Gomez, Emma L. Blakely et al. - Annals of Neurology, 2015
Cited by 930 OpenAlex

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies PDF

Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff et al. - JAMA, 2014
Cited by 362 OpenAlex

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance PDF

Gerald Pfeffer, Gráinne S. Gorman, Helen Griffin, Marzena Kurzawa‐Akanbi, Emma L. Blakely et al. - Brain, 2014
Cited by 176 OpenAlex

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA PDF

John W. Yarham, Tek N. Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini et al. - PLoS Genetics, 2014
Cited by 135 OpenAlex

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

John W. Yarham, Mazhor Aldosary, Emma L. Blakely, Charlotte L. Alston, Robert W. Taylor et al. - Human Mutation, 2011
Cited by 180 OpenAlex

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations PDF

Helen Swalwell, Denise M. Kirby, Emma L. Blakely, Anna Mitchell, Renato Salemi et al. - European Journal of Human Genetics, 2011
Cited by 127 OpenAlex

Mitochondrial tRNA mutations and disease

John W. Yarham, Joanna L. Elson, Emma L. Blakely, Robert McFarland, Robert W. Taylor - Wiley Interdisciplinary Reviews - RNA, 2010
Cited by 176 OpenAlex

Mitochondrial DNA mutations and human disease

Helen Tuppen, Emma L. Blakely, Douglass M. Turnbull, Robert W. Taylor - Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2009
Cited by 682 OpenAlex

Research Topics

Mitochondrial Function and Pathology (125) Metabolism and Genetic Disorders (94) ATP Synthase and ATPases Research (45) RNA modifications and cancer (28) Genetic Neurodegenerative Diseases (22)

Frequent Co-Authors

RO
Robert W. Taylor
12 joint publications
DO
Douglass M. Turnbull
11 joint publications
RO
Robert McFarland
11 joint publications
AN
Andrew M. Schaefer
6 joint publications
CH
Charlotte L. Alston
6 joint publications
PA
Patrick F. Chinnery
6 joint publications

Affiliations

National Health Service
GB 2021 - 2017
Montreal Neurological Institute and Hospital
CA 2008 - 2008
University of Helsinki
FI 2007 - 2007
University of Liverpool
GB 2010 - 2010
Inserm
FR 2007 - 2007

External Profiles

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