Publications by authors named "Hayley S Mountford"

12Publications

The Genetic Population Structure of Robinson Crusoe Island, Chile.

Front Genet 2020 26;11:669. Epub 2020 Jun 26.

Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom.

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http://dx.doi.org/10.3389/fgene.2020.00669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333314PMC
June 2020

Copy number variation burden does not predict severity of neurodevelopmental phenotype in children with a sex chromosome trisomy.

Am J Med Genet C Semin Med Genet 2020 06 26;184(2):256-266. Epub 2020 May 26.

Department of Biological and Medical Sciences, Oxford Brookes University, Oxford, Oxfordshire, UK.

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http://dx.doi.org/10.1002/ajmg.c.31791DOI Listing
June 2020

HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.

Mol Cell Proteomics 2020 07 21;19(7):1145-1160. Epub 2020 Apr 21.

Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria, Australia

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http://dx.doi.org/10.1074/mcp.RA120.002076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338084PMC
July 2020

Candidate gene variant effects on language disorders in Robinson Crusoe Island.

Ann Hum Biol 2019 Mar 19;46(2):109-119. Epub 2019 Jun 19.

a Department of Biological and Medical Sciences, Faculty of Health and Life Sciences , Oxford Brookes University , Oxford , UK.

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https://www.tandfonline.com/doi/full/10.1080/03014460.2019.1
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http://dx.doi.org/10.1080/03014460.2019.1622776DOI Listing
March 2019

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

PLoS Genet 2013 26;9(12):e1004034. Epub 2013 Dec 26.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia ; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1004034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873243PMC
August 2014