| Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 11348* | 2021 |
| Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2 … S Cirak, V Arechavala-Gomeza, M Guglieri, L Feng, S Torelli, K Anthony, ... The Lancet 378 (9791), 595-605, 2011 | 1190 | 2011 |
| The UK10K project identifies rare variants in health and disease Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ... Nature 526 (7571), 82-90, 2015 | 1140 | 2015 |
| Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of … M Kinali, V Arechavala-Gomeza, L Feng, S Cirak, D Hunt, C Adkin, ... The Lancet Neurology 8 (10), 918-928, 2009 | 890 | 2009 |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015 | 445 | 2015 |
| Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ... The American Journal of Human Genetics 91 (4), 672-684, 2012 | 342 | 2012 |
| Mutations in NSUN2 cause autosomal-recessive intellectual disability L Abbasi-Moheb, S Mertel, M Gonsior, L Nouri-Vahid, K Kahrizi, S Cirak, ... The American Journal of Human Genetics 90 (5), 847-855, 2012 | 304 | 2012 |
| An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016 | 261 | 2016 |
| Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan KJ Carss, E Stevens, AR Foley, S Cirak, M Riemersma, S Torelli, ... The American Journal of Human Genetics 93 (1), 29-41, 2013 | 255 | 2013 |
| ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome T Willer, H Lee, M Lommel, T Yoshida-Moriguchi, DBV De Bernabe, ... Nature genetics 44 (5), 575-580, 2012 | 252 | 2012 |
| A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome AG Bassuk, RH Wallace, A Buhr, AR Buller, Z Afawi, M Shimojo, S Miyata, ... The American Journal of Human Genetics 83 (5), 572-581, 2008 | 251 | 2008 |
| Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan E Stevens, KJ Carss, S Cirak, AR Foley, S Torelli, T Willer, DE Tambunan, ... The American Journal of Human Genetics 92 (3), 354-365, 2013 | 203 | 2013 |
| DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study L Bello, LP Morgenroth, H Gordish-Dressman, EP Hoffman, ... Neurology 87 (4), 401-409, 2016 | 177 | 2016 |
| Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss M Baumann, C Giunta, B Krabichler, F Rüschendorf, N Zoppi, M Colombi, ... The American Journal of Human Genetics 90 (2), 201-216, 2012 | 175 | 2012 |
| Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy IT Zaharieva, M Calissano, M Scoto, M Preston, S Cirak, L Feng, J Collins, ... PloS one 8 (11), e80263, 2013 | 173 | 2013 |
| Muscle histology vs MRI in Duchenne muscular dystrophy M Kinali, V Arechavala-Gomeza, S Cirak, A Glover, M Guglieri, L Feng, ... Neurology 76 (4), 346-353, 2011 | 171 | 2011 |
| Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials K Anthony, S Cirak, S Torelli, G Tasca, L Feng, V Arechavala-Gomeza, ... Brain 134 (12), 3547-3559, 2011 | 167 | 2011 |
| Congenital myopathies–clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom L Maggi, M Scoto, S Cirak, SA Robb, A Klein, S Lillis, T Cullup, L Feng, ... Neuromuscular Disorders 23 (3), 195-205, 2013 | 160 | 2013 |
| NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease RDS Pitceathly, S Rahman, Y Wedatilake, JM Polke, S Cirak, AR Foley, ... Cell reports 3 (6), 1795-1805, 2013 | 153 | 2013 |
| Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy S Cirak, L Feng, K Anthony, V Arechavala-Gomeza, S Torelli, C Sewry, ... Molecular Therapy 20 (2), 462-467, 2012 | 151 | 2012 |
Thomas VoitProfessor University College LondonПодтвержден адрес электронной почты в домене ucl.ac.uk
