D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 67 Citations 14,226 355 World Ranking 1779 National Ranking 230

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • Internal medicine

Rita Horvath focuses on Genetics, Pathology, Mitochondrial DNA, Mutation and Respiratory chain. Her Pathology study combines topics in areas such as Ataxia, Exome, Mitochondrial disease and Epilepsy. Her research in the fields of Chronic progressive external ophthalmoplegia, DGUOK and Mitochondrial DNA depletion syndrome overlaps with other disciplines such as Offspring.

She interconnects Neuromuscular junction, Cell biology and Somatic cell in the investigation of issues within Mutation. Her study in Respiratory chain is interdisciplinary in nature, drawing from both Endocrinology, Muscle biopsy, Internal medicine, Mitochondrial respiratory chain and Myoglobinuria. Her biological study deals with issues like Succinate dehydrogenase, which deal with fields such as Molecular biology.

Her most cited work include:

  • Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. (389 citations)
  • Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene (319 citations)
  • Multi-system neurological disease is common in patients with OPA1 mutations (285 citations)

What are the main themes of her work throughout her whole career to date?

Rita Horvath spends much of her time researching Genetics, Mitochondrial DNA, Mutation, Pathology and Mitochondrial disease. Gene, Phenotype, Exome sequencing, Missense mutation and Heteroplasmy are the primary areas of interest in her Genetics study. The study incorporates disciplines such as Molecular biology, Mitochondrion, Cytochrome c oxidase and Point mutation in addition to Mitochondrial DNA.

In her study, Endocrinology is strongly linked to Respiratory chain, which falls under the umbrella field of Mutation. Her work in Pathology addresses issues such as Ataxia, which are connected to fields such as Hereditary spastic paraplegia. The Mitochondrial disease study which covers Bioinformatics that intersects with Disease.

She most often published in these fields:

  • Genetics (41.88%)
  • Mitochondrial DNA (25.89%)
  • Mutation (23.10%)

What were the highlights of her more recent work (between 2017-2021)?

  • Genetics (41.88%)
  • Mitochondrial disease (19.54%)
  • Mitochondrial DNA (25.89%)

In recent papers she was focusing on the following fields of study:

Her primary scientific interests are in Genetics, Mitochondrial disease, Mitochondrial DNA, Phenotype and Disease. Her study in Gene, Missense mutation, Exome sequencing, Allele and Aminoacyl tRNA synthetase falls within the category of Genetics. Her studies in Mitochondrial disease integrate themes in fields like MEDLINE, Bioinformatics, Ataxia, Computational biology and Pharmacology.

The Mitochondrial DNA study combines topics in areas such as Molecular biology, Penetrance and Mitochondrial translation. She studied Molecular biology and Oxidative phosphorylation that intersect with Respiratory chain. Her biological study spans a wide range of topics, including Mutation, Myopathy, Cohort and Glaucoma.

Between 2017 and 2021, her most popular works were:

  • Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. (40 citations)
  • Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. (40 citations)
  • Mitochondrial DNA transcription and translation: clinical syndromes. (38 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Internal medicine

Rita Horvath mainly investigates Mitochondrial disease, Mitochondrial DNA, Mitochondrion, Respiratory chain and Cell biology. Her research in Mitochondrial disease intersects with topics in MEDLINE, Personalized medicine, Bioinformatics, Ataxia and Computational biology. Her Mitochondrial DNA study necessitates a more in-depth grasp of Genetics.

In Mitochondrion, Rita Horvath works on issues like Transfer RNA, which are connected to Mitochondrial respiratory chain, VAPB and Transport protein. Her research integrates issues of Molecular biology and MFN2 in her study of Respiratory chain. Her Cell biology study integrates concerns from other disciplines, such as Mutation, Mitochondrial matrix, Zebrafish and Spinal muscular atrophy.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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

Gráinne S. Gorman;Andrew M. Schaefer;Yi Ng;Nicholas Gomez.
Annals of Neurology (2015)

722 Citations

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

R Horvath;G Hudson;G Ferrari;N Futterer.
Brain (2006)

430 Citations

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.
Brain (2010)

384 Citations

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.
American Journal of Human Genetics (2007)

371 Citations

Universal heteroplasmy of human mitochondrial DNA

Brendan A.I. Payne;Ian J. Wilson;Patrick Yu-Wai-Man;Jonathan Coxhead.
Human Molecular Genetics (2013)

364 Citations

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.
Brain (2007)

337 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.
JAMA (2014)

329 Citations

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.
Nature Genetics (2009)

294 Citations

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

Wolfgang Müller-Felber;Rita Horvath;Klaus Gempel;Teodor Podskarbi.
Neuromuscular Disorders (2007)

283 Citations

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.
Nature Genetics (2009)

282 Citations

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