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Genetics

D-Index
82
Citations
21942
World Ranking
1482
National Ranking
189

Overview

Rita Horvath is a researcher affiliated with the University of Cambridge in the United Kingdom. Their work primarily spans the fields of biochemistry, genetics, and molecular biology, with a significant focus also on medicine. Within these areas, the main subfields of study include molecular biology, genetics, cellular and molecular neuroscience, neurology, and clinical biochemistry.

The research topics covered by Rita Horvath emphasize mitochondrial function and pathology, genomics and rare diseases, metabolism and genetic disorders, hereditary neurological disorders, genetic neurodegenerative diseases, RNA modifications and cancer, as well as genetics and neurodevelopmental disorders.

Rita Horvath has contributed to multiple prominent publication venues, frequently publishing in:

  • Brain
  • bioRxiv (Cold Spring Harbor Laboratory)
  • European Journal of Human Genetics
  • Journal of Neuromuscular Diseases
  • Neuromuscular Disorders

Some of their recent papers include:

  • "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion" (2020), published in Brain
  • "Mitochondrial Diseases: A Diagnostic Revolution" (2020), published in Trends in Genetics
  • "The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy" (2021), published in Science
  • "Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study" (2020), published in Brain
  • "Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study" (2021), published in BMJ

Frequent co-authors in their research include Hanns Lochmüller, Patrick F. Chinnery, Henry Houlden, Leslie Matalonga, and Ana Töpf.

Best Publications

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

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

  • Multi-system neurological disease is common in patients with OPA1 mutations

    Patrick Yu-Wai-Man;Philip G. Griffiths;Philip G. Griffiths;G. Gorman;C.-M. Lourenco

  • Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

    R Horvath;G Hudson;G Ferrari;N Futterer

  • Universal heteroplasmy of human mitochondrial DNA

    Brendan A.I. Payne;Ian J. Wilson;Patrick Yu-Wai-Man;Jonathan Coxhead

  • 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

  • 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

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

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

  • The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

    Klaus Gempel;Haluk Topaloglu;Beril Talim;Peter Schneiderat

  • Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

    Woranontee Weraarpachai;Hana Antonicka;Florin Sasarman;Florin Sasarman;Jürgen Seeger

  • Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

    Hana Antonicka;Scot C. Leary;Guy Hellen Guercin;Jeffrey N. Agar

  • SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

    Daniele Ghezzi;Paola Goffrini;Graziella Uziel;Rita Horvath;Rita Horvath

  • Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Sumit Parikh;Amy Goldstein;Amel Karaa;Mary Kay Koenig

  • Risk of developing a mitochondrial DNA deletion disorder

    Patrick F Chinnery;Salvatore DiMauro;Sara Shanske;Eric A Schon

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

    Scot C. Leary;Scot C. Leary;Paul A. Cobine;Brett A. Kaufman;Brett A. Kaufman;Guy Hellen Guercin;Guy Hellen Guercin

  • Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

    Brendan A I Payne;Brendan A I Payne;Ian J Wilson;Charlotte A Hateley;Rita Horvath

  • Extending the KCNQ2 encephalopathy spectrum Clinical and neuroimaging findings in 17 patients

    S Weckhuysen;Ivanovic;R Hendrickx;Van, Coster, R

  • Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity.

    Joanna D. Stewart;Rita Horvath;Enrico Baruffini;Iliana Ferrero

  • Mitochondria: Impaired mitochondrial translation in human disease

    Veronika Boczonadi;Rita Horvath

  • Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

    Salvatore Dimauro;Guido Davidzon;Michio Hirano;Rita Horvath

Frequent Co-Authors

Patrick F. Chinnery
Patrick F. Chinnery University of Cambridge
Hanns Lochmüller
Hanns Lochmüller University of Freiburg
Angela Pyle
Angela Pyle Newcastle University
Robert W. Taylor
Robert W. Taylor Newcastle University
Patrick Yu-Wai-Man
Patrick Yu-Wai-Man University of Cambridge
Robert McFarland
Robert McFarland Newcastle University
Douglass M. Turnbull
Douglass M. Turnbull Newcastle University
Thomas Klopstock
Thomas Klopstock Ludwig-Maximilians-Universität München
Emma L. Blakely
Emma L. Blakely Newcastle University
Charlotte L. Alston
Charlotte L. Alston Newcastle University

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