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 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.
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.
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.
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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)
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)
The Human Phenotype Ontology in 2017
Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)
Prevalence of mitochondrial DNA disease in adults
Andrew M. Schaefer;Robert McFarland;Emma L. Blakely;Langping He.
Annals of Neurology (2008)
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)
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)
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease
Robert N. Lightowlers;Patrick F. Chinnery;Douglass M. Turnbull;Neil Howell.
Trends in Genetics (1997)
The epidemiology of pathogenic mitochondrial DNA mutations.
P. F. Chinnery;M. A. Johnson;T. M. Wardell;R. Singh‐Kler.
Annals of Neurology (2000)
What causes mitochondrial DNA deletions in human cells
Kim J Krishnan;Amy K Reeve;David C Samuels;Patrick F Chinnery.
Nature Genetics (2008)
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)
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