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Genetics

D-Index
54
Citations
10595
World Ranking
3649
National Ranking
431

Overview

Emma L. Blakely is affiliated with Newcastle University in the United Kingdom. Their research focuses primarily on Biochemistry, Genetics, and Molecular Biology, with a particular emphasis on Molecular Biology, Clinical Biochemistry, Genetics, Pediatrics, Perinatology and Child Health, and Artificial Intelligence as subfields.

The main topics covered in their work include:

  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • ATP Synthase and ATPases Research
  • RNA modifications and cancer
  • RNA and protein synthesis mechanisms
  • Cancer, Hypoxia, and Metabolism
  • Genetic Neurodegenerative Diseases

Emma L. Blakely has contributed to several recent publications, including:

  • "Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging," 2020, published in Genome Biology
  • "Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines," 2022, published in European Journal of Human Genetics
  • "Forecasting stroke-like episodes and outcomes in mitochondrial disease," 2021, published in Brain
  • "POLRMT mutations impair mitochondrial transcription causing neurological disease," 2021, published in Nature Communications
  • "Natural History of Leigh Syndrome: A Study of Disease Burden and Progression," 2021, published in Annals of Neurology

Among the frequent co-authors collaborating with Blakely are Robert W. Taylor, Charlotte L. Alston, Robert McFarland, Yi Shiau Ng, and Gráinne S. Gorman. These collaborations have contributed to a robust network of research in mitochondrial and genetic disease studies.

Blakely's work is often published in the following venues:

  • Neuromuscular Disorders
  • New England Journal of Medicine
  • Genome Biology
  • European Journal of Human Genetics
  • Brain

Best Publications

  • Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

    Gráinne S. Gorman;Andrew M. Schaefer;Yi Ng;Nicholas Gomez

  • Mitochondrial DNA mutations and human disease

    Helen A.L. Tuppen;Emma L. Blakely;Douglass M. Turnbull;Robert W. Taylor

  • Prevalence of mitochondrial DNA disease in adults

    Andrew M. Schaefer;Robert McFarland;Emma L. Blakely;Langping He

  • Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

    Gavin Hudson;Patrizia Amati-Bonneau;Emma L. Blakely;Joanna D. Stewart

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

    Robert W. Taylor;Angela Pyle;Helen Griffin;Emma L. Blakely

  • Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR

    Langping He;Patrick F. Chinnery;Steve E. Durham;Emma L. Blakely

  • Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD

    D.A. Cottrell;E.L. Blakely;M.A. Johnson;P.G. Ince

  • mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

    John P Grady;Sarah J Pickett;Yi Shiau Ng;Charlotte L Alston;Charlotte L Alston

  • Mitochondrial tRNA mutations and disease.

    John W. Yarham;Joanna L. Elson;Emma L. Blakely;Robert McFarland

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

    John W. Yarham;Mazhor Al-Dosary;Emma L. Blakely;Charlotte L. Alston

  • Resistance training in patients with single, large-scale deletions of mitochondrial DNA

    Julie L. Murphy;Emma L. Blakely;Andrew M. Schaefer;Langping He

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

    Gerald Pfeffer;Gráinne S Gorman;Helen Griffin;Marzena Kurzawa-Akanbi

  • Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age

    D.A. Cottrell;E.L. Blakely;M.A. Johnson;P.G. Ince

  • Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

    Helen Swalwell;Denise M Kirby;Emma L Blakely;Anna Mitchell

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

    John W. Yarham;Tek N. Lamichhane;Angela Pyle;Sandy Mattijssen

  • Recent advances in understanding the molecular genetic basis of mitochondrial disease.

    Kyle Thompson;Jack J. Collier;Ruth I. C. Glasgow;Fiona M. Robertson

  • Disease progression in patients with single, large-scale mitochondrial DNA deletions

    John P. Grady;Georgia Campbell;Thiloka Ratnaike;Emma L. Blakely

  • LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

    Emma L Blakely;Rajith de Silva;Andrew King;Verena Schwarzer

  • A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

    Emma L. Blakely;Anna L. Mitchell;Nicholas Fisher;Brigitte Meunier

  • Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Commentary

    Massimo Zeviani;Julie L. Murphy;Emma L. Blakely;Andrew M. Schaefer

Frequent Co-Authors

Robert W. Taylor
Robert W. Taylor Newcastle University
Douglass M. Turnbull
Douglass M. Turnbull Newcastle University
Robert McFarland
Robert McFarland Newcastle University
Patrick F. Chinnery
Patrick F. Chinnery University of Cambridge
Charlotte L. Alston
Charlotte L. Alston Newcastle University
Rita Horvath
Rita Horvath University of Cambridge
Joanna Poulton
Joanna Poulton University of Oxford
Michael G. Hanna
Michael G. Hanna University College London
Patrick Yu-Wai-Man
Patrick Yu-Wai-Man University of Cambridge
Angela Pyle
Angela Pyle Newcastle University

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