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 and Molecular Biology D-index 102 Citations 38,173 392 World Ranking 408 National Ranking 51
Medicine D-index 87 Citations 26,002 416 World Ranking 6748 National Ranking 628

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Internal medicine

Patrick F. Chinnery focuses on Genetics, Mitochondrial DNA, Mutation, Mitochondrial disease and Heteroplasmy. His work in Human mitochondrial genetics, Haplotype, Penetrance, Phenotype and Haplogroup is related to Genetics. His study in Mitochondrial DNA is interdisciplinary in nature, drawing from both Disease, Mitochondrion and Point mutation.

His Mutation research includes elements of Respiratory chain, Mutant, DNA replication and Somatic cell. His work investigates the relationship between Mitochondrial disease and topics such as Pathology that intersect with problems in Exome and Exome sequencing. The concepts of his Heteroplasmy study are interwoven with issues in Non-Mendelian inheritance and Germline mutation.

His most cited work include:

  • Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA (2593 citations)
  • The Human Phenotype Ontology in 2017 (471 citations)
  • Mitochondrial DNA mutations in human colonic crypt stem cells (457 citations)

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

His scientific interests lie mostly in Genetics, Mitochondrial DNA, Mutation, Mitochondrial disease and Pathology. Many of his studies on Genetics involve topics that are commonly interrelated, such as Disease. His Mitochondrial DNA study combines topics in areas such as Molecular biology, Mitochondrion and Point mutation.

His Mutation research is multidisciplinary, incorporating elements of Mutant and Somatic cell. His Mitochondrial disease research integrates issues from Internal medicine, Mitochondrial encephalomyopathy, Mitochondrial respiratory chain and Bioinformatics. Pathology is closely attributed to Ataxia in his research.

He most often published in these fields:

  • Genetics (50.82%)
  • Mitochondrial DNA (49.81%)
  • Mutation (26.79%)

What were the highlights of his more recent work (between 2015-2021)?

  • Mitochondrial DNA (49.81%)
  • Genetics (50.82%)
  • Mitochondrial disease (24.53%)

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

Patrick F. Chinnery spends much of his time researching Mitochondrial DNA, Genetics, Mitochondrial disease, Mutation and Mitochondrion. His work in Mitochondrial DNA is not limited to one particular discipline; it also encompasses Penetrance. His study looks at the relationship between Genetics and topics such as Disease, which overlap with Optic neuropathy.

His work deals with themes such as Bioinformatics, Pathology, Ataxia, Internal medicine and Computational biology, which intersect with Mitochondrial disease. Patrick F. Chinnery has included themes like Phenotype, Neurodegeneration and Genetic variation in his Mutation study. His research in Mitochondrion intersects with topics in Molecular biology, Neuroscience and Sepsis.

Between 2015 and 2021, his most popular works were:

  • The Human Phenotype Ontology in 2017 (471 citations)
  • Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease (163 citations)
  • Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos (88 citations)

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

  • Gene
  • Mutation
  • Internal medicine

His primary areas of investigation include Genetics, Mitochondrial DNA, Mutation, Heteroplasmy and Mitochondrion. His Genetics study frequently draws connections to other fields, such as Computational biology. His study on Mitochondrial disease, Human mitochondrial genetics and Chronic progressive external ophthalmoplegia is often connected to Nucleoid as part of broader study in Mitochondrial DNA.

His study explores the link between Mutation and topics such as Neurodegeneration that cross with problems in Aging brain and Substantia nigra. Patrick F. Chinnery interconnects Population bottleneck and DNA in the investigation of issues within Heteroplasmy. His study in Mitochondrion is interdisciplinary in nature, drawing from both Phenotype, Gene and Molecular biology.

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

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

Richard M. Andrews;Iwona Kubacka;Patrick F. Chinnery;Robert N. Lightowlers.
Nature Genetics (1999)

3302 Citations

Mitochondrial DNA mutations in human colonic crypt stem cells

Robert W. Taylor;Martin J. Barron;Gillian M. Borthwick;Amy Gospel.
Journal of Clinical Investigation (2003)

696 Citations

The Human Phenotype Ontology in 2017

Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)

677 Citations

Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer;Robert McFarland;Emma L. Blakely;Langping He.
Annals of Neurology (2008)

613 Citations

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

Andrew R.J. Curtis;Constanze Fey;Christopher M Morris;Laurence A. Bindoff.
Nature Genetics (2001)

555 Citations

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

Hannah R. Elliott;David C. Samuels;James A. Eden;Caroline L. Relton.
American Journal of Human Genetics (2008)

546 Citations

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

Robert N. Lightowlers;Patrick F. Chinnery;Douglass M. Turnbull;Neil Howell.
Trends in Genetics (1997)

521 Citations

The epidemiology of pathogenic mitochondrial DNA mutations.

P. F. Chinnery;M. A. Johnson;T. M. Wardell;R. Singh‐Kler.
Annals of Neurology (2000)

496 Citations

What causes mitochondrial DNA deletions in human cells

Kim J Krishnan;Amy K Reeve;David C Samuels;Patrick F Chinnery.
Nature Genetics (2008)

469 Citations

Leber hereditary optic neuropathy

P Y W Man;D M Turnbull;D M Turnbull;P F Chinnery;P F Chinnery.
Journal of Medical Genetics (2002)

457 Citations

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