| Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations D Bockenhauer, S Feather, HC Stanescu, S Bandulik, AA Zdebik, ... New England Journal of Medicine 360 (19), 1960-1970, 2009 | 591 | 2009 |
| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 409 | 2017 |
| Effect of COVID-19 pandemic lockdowns on planned cancer surgery for 15 tumour types in 61 countries: an international, prospective, cohort study J Glasbey, A Ademuyiwa, A Adisa, E AlAmeer, AP Arnaud, F Ayasra, ... The Lancet Oncology 22 (11), 1507-1517, 2021 | 230 | 2021 |
| Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1 RH Henderson, DS Mackay, Z Li, P Moradi, P Sergouniotis, ... British journal of ophthalmology 95 (6), 811-817, 2011 | 128 | 2011 |
| Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ... Circulation 136 (21), 2022-2033, 2017 | 124 | 2017 |
| Iodine concentration and availability in atmospheric aerosol AR Baker, D Thompson, M Campos, SJ Parry, TD Jickells Atmospheric Environment 34 (25), 4331-4336, 2000 | 105 | 2000 |
| Joubert syndrome: long-term follow-up PR Hodgkins, CM Harris, FS Shawkat, DA Thompson, K Chong, C Timms, ... Developmental medicine and child neurology 46 (10), 694-699, 2004 | 86 | 2004 |
| ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies EA Webb, A AlMutair, D Kelberman, C Bacchelli, E Chanudet, F Lescai, ... Brain 136 (10), 3096-3105, 2013 | 83 | 2013 |
| VEP estimation of visual acuity: a systematic review R Hamilton, M Bach, SP Heinrich, MB Hoffmann, JV Odom, DL McCulloch, ... Documenta Ophthalmologica 142, 25-74, 2021 | 82 | 2021 |
| An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy RH Henderson, N Waseem, R Searle, J van der Spuy, I Russell-Eggitt, ... Investigative ophthalmology & visual science 48 (12), 5684-5689, 2007 | 81 | 2007 |
| RDH12 retinopathy: novel mutations and phenotypic description DS Mackay, AD Borman, P Moradi, RH Henderson, Z Li, GA Wright, ... Molecular vision 17, 2706, 2011 | 80 | 2011 |
| Ophthalmological aspects of Pierson syndrome C Bredrup, V Matejas, M Barrow, K Bláhová, D Bockenhauer, DJ Fowler, ... American journal of ophthalmology 146 (4), 602-611. e1, 2008 | 77 | 2008 |
| Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome DA Thompson, S Feather, HC Stanescu, B Freudenthal, AA Zdebik, ... The Journal of physiology 589 (7), 1681-1689, 2011 | 76 | 2011 |
| Monitoring visual function in children with syndromic craniosynostosis: a comparison of 3 methods A Liasis, KK Nischal, B Walters, D Thompson, S Hardy, A Towell, ... Archives of Ophthalmology 124 (8), 1119-1126, 2006 | 76 | 2006 |
| Modulation of amblyopia therapy following early surgery for unilateral congenital cataracts. IC Lloyd, JG Dowler, A Kriss, L Speedwell, DA Thompson, I Russell-Eggitt, ... British journal of ophthalmology 79 (9), 802-806, 1995 | 76 | 1995 |
| The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype S Hull, G Arno, V Plagnol, S Chamney, I Russell-Eggitt, D Thompson, ... Investigative ophthalmology & visual science 55 (10), 6934-6944, 2014 | 69 | 2014 |
| Sustained raised intracranial pressure implicated only by pattern reversal visual evoked potentials after cranial vault expansion surgery A Liasis, DA Thompson, R Hayward, KK Nischal Pediatric neurosurgery 39 (2), 75-80, 2003 | 63 | 2003 |
| Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data JHR Farmery, ML Smith, AG Lynch Scientific reports 8 (1), 1300, 2018 | 61 | 2018 |
| Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ... The American Journal of Human Genetics 103 (1), 3-18, 2018 | 60 | 2018 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 58 | 2019 |
