| Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ... Nature genetics 46 (5), 503-509, 2014 | 586 | 2014 |
| Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations MJ Smith, C Beetz, SG Williams, SS Bhaskar, J O'Sullivan, B Anderson, ... Journal of Clinical Oncology 32 (36), 4155-4161, 2014 | 302 | 2014 |
| Personalized diagnosis and management of congenital cataract by next-generation sequencing RL Gillespie, J O’Sullivan, J Ashworth, S Bhaskar, S Williams, S Biswas, ... Ophthalmology 121 (11), 2124-2137. e2, 2014 | 194 | 2014 |
| Molecular findings from 537 individuals with inherited retinal disease JM Ellingford, S Barton, S Bhaskar, J O'Sullivan, SG Williams, JA Lamb, ... Journal of medical genetics 53 (11), 761-767, 2016 | 159 | 2016 |
| Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot DJ Page, MJ Miossec, SG Williams, RM Monaghan, E Fotiou, HJ Cordell, ... Circulation research 124 (4), 553-563, 2019 | 143 | 2019 |
| Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease JM Ellingford, S Barton, S Bhaskar, SG Williams, PI Sergouniotis, ... Ophthalmology 123 (5), 1143-1150, 2016 | 141 | 2016 |
| Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6 I Ratbi, KD Falkenberg, M Sommen, N Al-Sheqaih, S Guaoua, ... The American Journal of Human Genetics 97 (4), 535-545, 2015 | 123 | 2015 |
| Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts EM Jenkinson, MP Rodero, PR Kasher, C Uggenti, A Oojageer, ... Nature genetics 48 (10), 1185-1192, 2016 | 122 | 2016 |
| Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis MJ Smith, B Isidor, C Beetz, SG Williams, SS Bhaskar, W Richer, ... Neurology 84 (2), 141-147, 2015 | 107 | 2015 |
| ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy J Böhm, M Bulla, JE Urquhart, E Malfatti, SG Williams, J O'Sullivan, ... Human mutation 38 (4), 426-438, 2017 | 89 | 2017 |
| Expanding the genotypic spectrum of Perrault syndrome LAM Demain, JE Urquhart, J O'Sullivan, SG Williams, SS Bhaskar, ... Clinical genetics 91 (2), 302-312, 2017 | 84 | 2017 |
| Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten … AC Bursztejn, TA Briggs, Y del Toro Duany, BH Anderson, J O'Sullivan, ... British Journal of Dermatology 173 (6), 1505-1513, 2015 | 84 | 2015 |
| Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis C Yang, Y Xu, M Yu, D Lee, S Alharti, N Hellen, N Ahmad Shaik, ... Human molecular genetics 26 (16), 3031-3045, 2017 | 68 | 2017 |
| Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome D Wieczorek, WG Newman, T Wieland, T Berulava, M Kaffe, ... The American Journal of Human Genetics 95 (6), 698-707, 2014 | 65 | 2014 |
| Promoter interactome of human embryonic stem cell-derived cardiomyocytes connects GWAS regions to cardiac gene networks MK Choy, BM Javierre, SG Williams, SL Baross, Y Liu, SW Wingett, ... Nature communications 9 (1), 2526, 2018 | 64 | 2018 |
| Next-generation sequencing in the diagnosis of metabolic disease marked by pediatric cataract RL Gillespie, J Urquhart, B Anderson, S Williams, S Waller, J Ashworth, ... Ophthalmology 123 (1), 217-220, 2016 | 56 | 2016 |
| Non lethal Raine syndrome and differential diagnosis SC Elalaoui, N Al-Sheqaih, I Ratbi, JE Urquhart, J O'Sullivan, S Bhaskar, ... European journal of medical genetics 59 (11), 577-583, 2016 | 45 | 2016 |
| The effect of sequence evolution on protein structural divergence SG Williams, SC Lovell Molecular biology and evolution 26 (5), 1055-1065, 2009 | 42 | 2009 |
| Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome JM Ellingford, PI Sergouniotis, R Lennon, S Bhaskar, SG Williams, ... The Lancet 385 (9980), 1916, 2015 | 37 | 2015 |
| Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations I Hochberg, LAM Demain, J Richer, K Thompson, JE Urquhart, A Rea, ... The American Journal of Human Genetics 108 (11), 2195-2204, 2021 | 29 | 2021 |
