| Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency RE Dickinson, H Griffin, V Bigley, LN Reynard, R Hussain, M Haniffa, ... Blood, The Journal of the American Society of Hematology 118 (10), 2656-2658, 2011 | 511 | 2011 |
| Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies RW Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, ... Jama 312 (1), 68-77, 2014 | 400 | 2014 |
| Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance G Pfeffer, GS Gorman, H Griffin, M Kurzawa-Akanbi, EL Blakely, I Wilson, ... Brain 137 (5), 1323-1336, 2014 | 181 | 2014 |
| Exome sequencing in undiagnosed inherited and sporadic ataxias A Pyle, T Smertenko, D Bargiela, H Griffin, J Duff, M Appleton, ... Brain 138 (2), 276-283, 2015 | 159 | 2015 |
| EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia V Boczonadi, JS Müller, A Pyle, J Munkley, T Dor, J Quartararo, I Ferrero, ... Nature communications 5 (1), 4287, 2014 | 154 | 2014 |
| Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA JW Yarham, TN Lamichhane, A Pyle, S Mattijssen, E Baruffini, F Bruni, ... PLoS genetics 10 (6), e1004424, 2014 | 145 | 2014 |
| Titin mutation segregates with hereditary myopathy with early respiratory failure G Pfeffer, HR Elliott, H Griffin, R Barresi, J Miller, J Marsh, A Evilä, ... Brain 135 (6), 1695-1713, 2012 | 140 | 2012 |
| Genetic heterogeneity of motor neuropathies B Bansagi, H Griffin, RG Whittaker, T Antoniadi, T Evangelista, J Miller, ... Neurology 88 (13), 1226-1234, 2017 | 128 | 2017 |
| Recessive mutations in TRMT10C cause defects in mitochondrial RNA processing and multiple respiratory chain deficiencies MD Metodiev, K Thompson, CL Alston, AAM Morris, L He, Z Assouline, ... The American Journal of Human Genetics 98 (5), 993-1000, 2016 | 128 | 2016 |
| SPG7 mutations are a common cause of undiagnosed ataxia G Pfeffer, A Pyle, H Griffin, J Miller, V Wilson, L Turnbull, K Fawcett, ... Neurology 84 (11), 1174-1176, 2015 | 127 | 2015 |
| Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy DN Herrmann, R Horvath, JE Sowden, M Gonzales, A Sanchez-Mejias, ... The American Journal of Human Genetics 95 (3), 332-339, 2014 | 120 | 2014 |
| Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex: the TREATMENT randomized clinical trial MK Koenig, CS Bell, AA Hebert, J Roberson, JA Samuels, JM Slopis, ... JAMA dermatology 154 (7), 773-780, 2018 | 118* | 2018 |
| Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains W Wei, MJ Keogh, I Wilson, J Coxhead, S Ryan, S Rollinson, H Griffin, ... Acta neuropathologica communications 5, 1-8, 2017 | 113 | 2017 |
| Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood D Lewis-Smith, KJ Kamer, H Griffin, AM Childs, K Pysden, D Titov, J Duff, ... Neurology: Genetics 2 (2), e59, 2016 | 113 | 2016 |
| Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy S Nicole, A Chaouch, T Torbergsen, S Bauché, E de Bruyckere, ... Brain 137 (9), 2429-2443, 2014 | 111 | 2014 |
| TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies CA Powell, R Kopajtich, AR D’Souza, J Rorbach, LS Kremer, RA Husain, ... The American Journal of Human Genetics 97 (2), 319-328, 2015 | 106 | 2015 |
| Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness S Kmoch, J Majewski, V Ramamurthy, S Cao, S Fahiminiya, H Ren, ... Nature communications 6 (1), 5614, 2015 | 96 | 2015 |
| ANO10 mutations cause ataxia and coenzyme Q10 deficiency A Balreira, V Boczonadi, E Barca, A Pyle, B Bansagi, M Appleton, ... Journal of neurology 261, 2192-2198, 2014 | 94 | 2014 |
| Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure G Pfeffer, R Barresi, IJ Wilson, SA Hardy, H Griffin, J Hudson, HR Elliott, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (3), 331-338, 2014 | 93 | 2014 |
| Mutations in the mitochondrial citrate carrier SLC25A1 are associated with impaired neuromuscular transmission A Chaouch, V Porcelli, D Cox, S Edvardson, P Scarcia, A De Grassi, ... Journal of neuromuscular diseases 1 (1), 75-90, 2014 | 91 | 2014 |