Helen Griffin

Helen Griffin

Newcastle University - Newcastle upon Tyne / United Kingdom
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1333157
University of Newcastle upon Tyne
person_outline Helen Griffin's MOST POPULAR ARTICLES
1-) Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiencyRE Dickinson, H Griffin, V Bigley, LN Reynard, R Hussain, M Haniffa, ...Blood, The Journal of the American Society of Hematology 118 (10), 2656-2658, 20114302011
2-) Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRW Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, ...Jama 312 (1), 68-77, 20143332014
3-) Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceG Pfeffer, GS Gorman, H Griffin, M Kurzawa-Akanbi, EL Blakely, I Wilson, ...Brain 137 (5), 1323-1336, 20141602014
4-) Exome sequencing in undiagnosed inherited and sporadic ataxiasA Pyle, T Smertenko, D Bargiela, H Griffin, J Duff, M Appleton, ...Brain 138 (2), 276-283, 20151582015
5-) EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasiaV Boczonadi, JS Müller, A Pyle, J Munkley, T Dor, J Quartararo, I Ferrero, ...Nature communications 5 (1), 4287, 20141522014