Browsing publications by Professor Patrick Chinnery

Newcastle AuthorsTitleYearFull text
Dr Vasileios Floros
Dr Angela Pyle
Dr Wei Wei
Dr Brendan Payne
Dr Jonathan Coxhead
et al.
Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos2018
Dr Ewen Sommerville
Dr Grainne Gorman
Professor Doug Turnbull
Professor Patrick Chinnery
Professor Robert Taylor
et al.
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA2018
Dr Wei Wei
Dr Aurora Gomez Duran
Dr Gavin Hudson
Professor Patrick Chinnery
Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations2017
Dr Monika Olahova
Dr Kyle Thompson
Dr Charlotte Alston
Professor Patrick Chinnery
Professor Zofia Chrzanowska-Lightowlers
et al.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies2017
Professor Patrick Chinnery
Dr Patrick Yu Wai Man
Childhood-onset Leber hereditary optic neuropathy2017
Professor Rita Horvath
Professor Patrick Chinnery
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy2017
Ewen Sommerville
Dr Charlotte Alston
Dr Angela Pyle
Dr Langping He
Gavin Falkous
et al.
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities2017
Professor David Burn
Professor Patrick Chinnery
Dr Gavin Hudson
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing2017
Dr Michael Keogh
Dr Wei Wei
Dr Ian Wilson
Dr Jonathan Coxhead
Dr Helen Griffin
et al.
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource2017
Dr Boglárka Bánsági
Dr Helen Griffin
Dr Roger Whittaker
Dr Teresinha Evangelista
Dr James Miller
et al.
Genetic heterogeneity of motor neuropathies2017
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