Angela Pyle

Overview

Best Publications

• Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

  Gavin Hudson;Valerio Carelli;Valerio Carelli;Liesbeth Spruijt;Mike Gerards

  415
  Citations

• 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

  402
  Citations

• Whole-genome sequencing of patients with rare diseases in a national health system

  Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  392
  Citations

• Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

  Carla Giordano;Luisa Iommarini;Luca Giordano;Alessandra Maresca

  321
  Citations

• Whole-genome sequencing of a sporadic primary immunodeficiency cohort

  Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  239
  Citations

• Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

  Angela Pyle;Haidyan Anugrha;Marzena Kurzawa-Akanbi;Alison Yarnall

  236
  Citations

• Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

  Vasileios I. Floros;Vasileios I. Floros;Angela Pyle;Sabine Dietmann;Wei Wei;Wei Wei

  200
  Citations

• Mitochondrial DNA and survival after sepsis : a prospective study

  Simon V Baudouin;David Saunders;Watcharee Tiangyou;Joanna L Elson

  200
  Citations

• 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

  185
  Citations

• Exome sequencing in undiagnosed inherited and sporadic ataxias

  Angela Pyle;Tania Smertenko;David Bargiela;Helen Griffin

  152
  Citations

• Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

  Rita Horvath;John P. Kemp;Helen A. L. Tuppen;Gavin Hudson

  148
  Citations

• Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

  Robert Kopajtich;Thomas J. Nicholls;Joanna Rorbach;Metodi D. Metodiev

  148
  Citations

• EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

  Veronika Boczonadi;Juliane S. Müller;Angela Pyle;Jennifer Munkley

  139
  Citations

• 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

  135
  Citations

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

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

  134
  Citations

• Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

  Rikke K.J. Olsen;Eliška Koňaříková;Teresa A. Giancaspero;Signe Mosegaard

  132
  Citations

• Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease.

  Angela Pyle;Rebecca Brennan;Marzena Kurzawa-Akanbi;Alison Yarnall

  124
  Citations

• Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

  David N. Herrmann;Rita Horvath;Janet E. Sowden;Michael Gonzales

  123
  Citations

• Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

  Martina Minnerop;Martina Minnerop;Delia Kurzwelly;Delia Kurzwelly;Holger Wagner;Anne S Soehn

  108
  Citations

• Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

  Metodi D. Metodiev;Kyle Thompson;Charlotte L. Alston;Andrew A.M. Morris;Andrew A.M. Morris

  105
  Citations