Staff Profile
Dr Jennifer Duff
Technician
- Email: jennifer.duff@ncl.ac.uk
- Telephone: +44 (0)191 241 8818
- Address: Institute of Genetic Medicine
Newcastle University
International Centre For Life
Newcastle upon Tyne
NE1 3BZ
United Kingdom
Publications
- Bartsakoulia M, Pyle A, Troncoso-Chandia D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmuller H, Kleinle S, Chinnery PF, Grunert S, Kirschner J, Eisner V, Horvath R. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. Human Molecular Genetics 2018, 27(7), 1186-1195.
- Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R. Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. Neurology 2018, 90(21), e1842-e1848.
- Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmuller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology 2017, 88(13), 1226-1234.
- Connor TM, Hoer S, Mallett A, Gale DP, Gomez-Duran A, Posse V, Antrobus R, Moreno P, Sciacovelli M, Frezza C, Duff J, Sheerin NS, Sayer JA, Ashcroft M, Wiesener MS, Hudson G, Gustafsson CM, Chinnery PF, Maxwell PH. Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. PLoS Genetics 2017, 13(3), e1006620.
- Bansagi B, O'Sullivan J, Mueller J, Duff J, Miller J, Gorman G, Swan L, Horvath R. Multifocal motor neuropathy caused by phosphatase and tensin homologue (PTEN) mutation. In: 6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting. 2016, Venice-Mestre, Italy: Wiley-Blackwell Publishing, Inc.
- Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R. Phenotypic convergence of Menkes and Wilson disease. Neurology Genetics 2016, 2(6), e199.
- Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF. SCP2 mutations and neurodegeneration with brain iron accumulation. Neurology 2015, 85(21), 1909-1911.
- Keogh MJ, Daud D, Pyle A, Duff J, Griffin H, He L, Alston CL, Steele H, Taggart S, Basu AP, Taylor RW, Horvath R, Ramesh V, Chinnery PF. A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. Neurogenetics 2015, 16(1), 65-67.
- Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain 2015, 138(2), 276-283.
- Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF. Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia. Journal of Neurology 2015, 262(8), 1822-1827.
- Bansagi B, Griffin H, Ramesh V, Duff J, Pyle A, Chinnery PF, Horvath R. The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy. Brain 2015, 138(11), e391.
- Carbutt S, Duff J, Yarnall A, Burn DJ, Hudson G. Variation in complement protein C1q is not a major contributor to cognitive impairment in Parkinson's disease. Neuroscience Letters 2015, 594, 66-69.
- Griffin HR, Pyle A, Blakely EL, Alston CL, Duff J, Hudson G, Horvath R, Wilson IJ, Santibanez-Koref M, Taylor RW, Chinnery PF. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations. Genetics in Medicine 2014, 16(12), 962-971.
- Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He LP, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AAM, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies. Journal of the American Medical Association 2014, 312(1), 68-77.
- Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai-Man P, Santibanez-Koref M, Horvath R, Chinnery PF. Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization. Journal of Neurogenetics 2013, 27(4), 176-182.
- Pyle A, Griffin H, Yu-Wai-Man P, Duff J, Eglon G, Pickering-Brown S, Santibanez-Korev M, Horvath R, Chinnery PF. Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing. Archives of Neurology 2012, 69(10), 1351-1354.