| Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis PD Kelsell, EE Norgett, H Unsworth, MT Teh, T Cullup, CA Mein, ... The American Journal of Human Genetics 76 (5), 794-803, 2005 | 446 | 2005 |
| Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy T Cullup, AL Kho, C Dionisi-Vici, B Brandmeier, F Smith, Z Urry, ... Nature genetics 45 (1), 83-87, 2013 | 290 | 2013 |
| RYR1 mutations are a common cause of congenital myopathies with central nuclei JM Wilmshurst, S Lillis, H Zhou, K Pillay, H Henderson, W Kress, ... Annals of neurology 68 (5), 717-726, 2010 | 290 | 2010 |
| Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers CF Houlihan, N Vora, T Byrne, D Lewer, G Kelly, J Heaney, S Gandhi, ... The Lancet 396 (10246), e6-e7, 2020 | 250 | 2020 |
| 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 | 159 | 2013 |
| X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ... Nature communications 8 (1), 14279, 2017 | 154 | 2017 |
| Congenital myopathies: natural history of a large pediatric cohort I Colombo, M Scoto, AY Manzur, SA Robb, L Maggi, V Gowda, T Cullup, ... Neurology 84 (1), 28-35, 2015 | 145 | 2015 |
| Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies SA Robb, CA Sewry, JJ Dowling, L Feng, T Cullup, S Lillis, S Abbs, ... Neuromuscular Disorders 21 (6), 379-386, 2011 | 121 | 2011 |
| EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy S Byrne, L Jansen, JM U-King-Im, A Siddiqui, HGW Lidov, I Bodi, L Smith, ... Brain 139 (3), 765-781, 2016 | 117 | 2016 |
| Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus MR Fassad, A Shoemark, M Legendre, RA Hirst, F Koll, P Le Borgne, ... The American Journal of Human Genetics 103 (6), 984-994, 2018 | 113 | 2018 |
| ABCA12 is the major harlequin ichthyosis gene AC Thomas, T Cullup, EE Norgett, T Hill, S Barton, BA Dale, E Sprecher, ... Journal of investigative dermatology 126 (11), 2408-2413, 2006 | 113 | 2006 |
| The oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders A Patel, JD Hayward, V Tailor, R Nyanhete, H Ahlfors, C Gabriel, ... Ophthalmology 126 (6), 888-907, 2019 | 95 | 2019 |
| Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001–2008 EM Clement, L Feng, R Mein, CA Sewry, SA Robb, AY Manzur, E Mercuri, ... Neuromuscular Disorders 22 (6), 522-527, 2012 | 87 | 2012 |
| High prevalence of CCDC103 p. His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations A Shoemark, E Moya, RA Hirst, MP Patel, EA Robson, J Hayward, J Scully, ... Thorax 73 (2), 157-166, 2018 | 86 | 2018 |
| Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement T Cullup, PJ Lamont, S Cirak, MS Damian, W Wallefeld, R Gooding, ... Neuromuscular Disorders 22 (12), 1096-1104, 2012 | 86 | 2012 |
| Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis E Omoyinmi, A Standing, A Keylock, F Price-Kuehne, S Melo Gomes, ... PloS one 12 (7), e0181874, 2017 | 83 | 2017 |
| Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia S Best, A Shoemark, B Rubbo, MP Patel, MR Fassad, M Dixon, ... Thorax 74 (2), 203-205, 2019 | 73 | 2019 |
| Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort MR Fassad, MP Patel, A Shoemark, T Cullup, J Hayward, M Dixon, ... Journal of Medical Genetics 57 (5), 322-330, 2020 | 70 | 2020 |
| Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia P Munot, D Lashley, H Jungbluth, L Feng, M Pitt, SA Robb, J Palace, ... Neuromuscular Disorders 20 (12), 796-800, 2010 | 68 | 2010 |
| C11orf70 mutations disrupting the intraflagellar transport-dependent assembly of multiple axonemal dyneins cause primary ciliary dyskinesia MR Fassad, A Shoemark, P Le Borgne, F Koll, M Patel, M Dixon, ... The American Journal of Human Genetics 102 (5), 956-972, 2018 | 64 | 2018 |
