Mauro Santibanez-Koref

Mauro Santibanez-Koref

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Mauro Santibanez-Koref

Mauro Santibanez-Koref

Publications by authors named "Mauro Santibanez-Koref"

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Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.

Mitochondrion 2019 05 9;46:302-306. Epub 2018 Aug 9.

Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; The Wellcome Centre for Mitochondrial Research, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509278PMC
May 2019

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent to child transmission.

J Am Acad Dermatol 2019 May 11. Epub 2019 May 11.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, U.K; Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, U.K. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2019.05.021DOI Listing
May 2019

Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular Study.

PLoS One 2016 8;11(7):e0159024. Epub 2016 Jul 8.

Musculoskeletal Research Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0159024PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938163PMC
July 2017

Impact of Month of Birth on the Risk of Development of Autoimmune Addison's Disease.

J Clin Endocrinol Metab 2016 11 30;101(11):4214-4218. Epub 2016 Aug 30.

Institute of Genetic Medicine (A.P., A.L.M., C.M.N., E.G., M..S-K., S.H.P.), Newcastle University, Newcastle upon Tyne, NE1 3BZ United Kingdom; Institute of Human Genetics (M.F.), Polish Academy of Sciences, 60-479, Poznan, Poland; and Department of Endocrinology, Metabolism and Internal Medicine (M.F., M.R.), Poznan University of Medical Sciences, 60-355 Poznan, Poland.

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http://dx.doi.org/10.1210/jc.2016-2392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095257PMC
November 2016

Erratum to: PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events.

BMC Bioinformatics 2016 Feb 18;17:92. Epub 2016 Feb 18.

Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK.

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http://dx.doi.org/10.1186/s12859-016-0949-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759711PMC
February 2016

Genetic variants associated with risk of atrial fibrillation regulate expression of PITX2, CAV1, MYOZ1, C9orf3 and FANCC.

J Mol Cell Cardiol 2015 Aug 11;85:207-14. Epub 2015 Jun 11.

Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK; Institute of Cardiovascular Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1016/j.yjmcc.2015.06.005DOI Listing
August 2015

Respiratory chain deficiency in nonmitochondrial disease.

Neurol Genet 2015 Jun 27;1(1):e6. Epub 2015 Apr 27.

Wellcome Trust Centre for Mitochondrial Research (A.P., H.J.N., H.G., K.D., M.S.-K., P.F.C., R.H.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Medical Genetics Center (A.A., L.F., B.C., S.K., E.H.-F.), Munich, Germany; Division of Neuropediatrics and Muscle Disorders (J.K.), University Medical Center, Freiburg, Germany; Department of Paediatrics (I.B., M.C.), University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia; Department of Paediatrics (M.K.), Hospital Baden-Baden, Germany; and Department of Molecular Genetics and Diagnostics (V.K.), NIEH, Budapest, Hungary.

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http://dx.doi.org/10.1212/NXG.0000000000000006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821083PMC
June 2015

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans.

PLoS Genet 2015 May 14;11(5):e1005040. Epub 2015 May 14.

Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1005040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4431825PMC
May 2015

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Brain 2015 Feb 12;138(Pt 2):276-83. Epub 2014 Dec 12.

1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK

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http://dx.doi.org/10.1093/brain/awu348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306819PMC
February 2015

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Clin Kidney J 2015 Feb 5;8(1):113-9. Epub 2014 Dec 5.

Institute of Genetic Medicine , International Centre for Life, Newcastle University , Newcastle upon Tyne , UK.

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http://dx.doi.org/10.1093/ckj/sfu129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310431PMC
February 2015

Using population data for assessing next-generation sequencing performance.

Bioinformatics 2015 Jan 17;31(1):56-61. Epub 2014 Sep 17.

Oxford Gene Technology, Begbroke Science Park, Oxford, Oxfordshire, OX5 1PF, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway NE1 3BZ, Newcastle upon Tyne and The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

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http://bioinformatics.oxfordjournals.org/content/early/2014/
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http://bioinformatics.oxfordjournals.org/cgi/doi/10.1093/bio
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http://dx.doi.org/10.1093/bioinformatics/btu606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271148PMC
January 2015

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.

Genet Med 2014 Dec 5;16(12):962-71. Epub 2014 Jun 5.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.

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http://dx.doi.org/10.1038/gim.2014.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272251PMC
December 2014

Atrial fibrillation associated with ivabradine treatment: meta-analysis of randomised controlled trials.

Heart 2014 Oct 20;100(19):1506-10. Epub 2014 Jun 20.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Institute of Cardiovascular Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/heartjnl-2014-305482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4174120PMC
October 2014

Human chondrocytes respond discordantly to the protein encoded by the osteoarthritis susceptibility gene GDF5.

PLoS One 2014 21;9(1):e86590. Epub 2014 Jan 21.

Musculoskeletal Research Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086590PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897745PMC
September 2014

Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing.

Brief Funct Genomics 2014 Sep 14;13(5):378-83. Epub 2014 Jul 14.

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http://dx.doi.org/10.1093/bfgp/elu024DOI Listing
September 2014

Point of care testing for improving risk- benefit ratio of aspirin and warfarin.

Mol Cytogenet 2014 21;7(Suppl 1 Proceedings of the International Conference on Human):I54. Epub 2014 Jan 21.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1186/1755-8166-7-S1-I54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044298PMC
June 2014

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.

J Neurogenet 2013 Dec 4;27(4):176-82. Epub 2013 Nov 4.

Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine , Newcastle upon Tyne , UK.

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http://dx.doi.org/10.3109/01677063.2013.831094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4038496PMC
December 2013

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Am J Hum Genet 2013 Dec 21;93(6):1100-7. Epub 2013 Nov 21.

Unité de Génétique Clinique, Service de Génétique Médicale, Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'Interrégion Grand-Ouest, Centre Hospitalier Universitaire Nantes, 9 Quai Moncousu, 44093 Nantes Cedex 1, France; Institut National de la Santé et de la Recherche Médicale UMR 1089, Atlantic Gene Therapy Institute, University of Nantes, 44007 Nantes, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853004PMC
December 2013

Universal heteroplasmy of human mitochondrial DNA.

Hum Mol Genet 2013 Jan 16;22(2):384-90. Epub 2012 Oct 16.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastleupon-Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1093/hmg/dds435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526165PMC
January 2013

Comparing methods for mapping cis acting polymorphisms using allelic expression ratios.

PLoS One 2011 13;6(12):e28636. Epub 2011 Dec 13.

School of Health and Related Research, University of Sheffield, Sheffield, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0028636PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3236754PMC
April 2012

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3.

BMC Med Genet 2012 Mar 2;13:12. Epub 2012 Mar 2.

Musculoskeletal Research Group, Institute of Cellular Medicine, Newcastle University, Newcastle, UK.

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http://dx.doi.org/10.1186/1471-2350-13-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366887PMC
March 2012

Finding genes that influence quantitative traits with tree-based clustering.

BMC Proc 2011 Nov 29;5 Suppl 9:S98. Epub 2011 Nov 29.

Institute of Genetic Medicine, Newcastle University, Newcastle NE3 1NB, UK.

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http://dx.doi.org/10.1186/1753-6561-5-S9-S98DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287940PMC
November 2011

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations.

Nat Genet 2011 Jun 26;43(8):806-10. Epub 2011 Jun 26.

Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ng.863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223397PMC
June 2011

MLH1 Differential allelic expression in mutation carriers and controls.

Ann Hum Genet 2010 Nov 23;74(6):479-88. Epub 2010 Sep 23.

Institute of Human Genetics, University of Newcastle, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1111/j.1469-1809.2010.00603.xDOI Listing
November 2010

Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.

PLoS Genet 2010 Apr 8;6(4):e1000899. Epub 2010 Apr 8.

Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom.

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https://dx.plos.org/10.1371/journal.pgen.1000899
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http://dx.doi.org/10.1371/journal.pgen.1000899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851566PMC
April 2010

STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression.

BMC Med Genet 2009 Dec 14;10:135. Epub 2009 Dec 14.

Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1186/1471-2350-10-135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2803166PMC
December 2009

Alkyltransferase-like proteins.

DNA Repair (Amst) 2007 Aug 17;6(8):1222-8. Epub 2007 May 17.

Cancer Research-UK Carcinogenesis Group, Paterson Institute for Cancer Research, University of Manchester, Manchester M20 4BX, United Kingdom.

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http://dx.doi.org/10.1016/j.dnarep.2007.03.014DOI Listing
August 2007

Lung cancer risk and variation in MGMT activity and sequence.

DNA Repair (Amst) 2007 Aug 13;6(8):1134-44. Epub 2007 Jun 13.

Centre for Occupational and Environmental Health, University of Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.dnarep.2007.03.022DOI Listing
August 2007

Smoking is associated with a decrease of O6-alkylguanine-DNA alkyltransferase activity in bronchial epithelial cells.

Int J Cancer 2006 Jul;119(2):463-6

Centre for Occupational and Environmental Health, University of Manchester, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/ijc.21790DOI Listing
July 2006

A novel DNA damage recognition protein in Schizosaccharomyces pombe.

Nucleic Acids Res 2006 5;34(8):2347-54. Epub 2006 May 5.

Cancer Research UK Carcinogenesis Group, Paterson Institute for Cancer Research, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1093/nar/gkl270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1458281PMC
May 2006

Evidence for widespread reticulate evolution within human duplicons.

Am J Hum Genet 2005 Nov 30;77(5):824-40. Epub 2005 Sep 30.

Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1086/497704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1271390PMC
November 2005

Inhibition of O6-methylguanine-DNA methyltransferase by an alkyltransferase-like protein from Escherichia coli.

Nucleic Acids Res 2005 13;33(12):3837-44. Epub 2005 Jul 13.

Cancer Research-UK Carcinogenesis Group, Paterson Institute for Cancer Research, Christie Hospital NHS Trust Wilmslow Road, Manchester, UK.

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http://dx.doi.org/10.1093/nar/gki696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1175458PMC
July 2005

A molecular genetic and statistical approach for the diagnosis of dual-site cancers.

J Natl Cancer Inst 2004 Oct;96(19):1441-6

Gynaecology Cancer Research Unit, St. Bartholomew's and The London, Queen Mary's School of Medicine and Dentistry, University of London, London, UK.

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http://dx.doi.org/10.1093/jnci/djh272DOI Listing
October 2004

Variability and regulation of O6-alkylguanine-DNA alkyltransferase.

Carcinogenesis 2003 Apr;24(4):625-35

Cancer Research Uk Carcinogenesis Group, Paterson Institute for Cancer Research, Manchester M20 4BX, UK.

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http://dx.doi.org/10.1093/carcin/bgg005DOI Listing
April 2003

Autologous lymphocytes inhibit hemopoiesis in long-term culture in patients with myelodysplastic syndrome.

Exp Hematol 2002 Dec;30(12):1405-11

Department of Experimental Haematology, Christie Hospital NHS Trust, Manchester, England, UK.

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December 2002

Mechanisms of carcinogenicity/chemotherapy by O6-methylguanine.

Mutagenesis 2002 Nov;17(6):483-7

Cancer Research UK Carcinogenesis Group, Paterson Institute for Cancer Research, Manchester M20 4BX, UK.

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http://dx.doi.org/10.1093/mutage/17.6.483DOI Listing
November 2002

O6-alkylguanine-DNA alkyltransferase: role in carcinogenesis and chemotherapy.

Bioessays 2002 Mar;24(3):255-66

CRC Carcinogenesis Group, Paterson Institute for Cancer Research, Manchester, UK.

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http://dx.doi.org/10.1002/bies.10063DOI Listing
March 2002