| 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 |
| Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus BH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ... Nature genetics 44 (3), 338-342, 2012 | 284 | 2012 |
| Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases B Kerr, MA Delrue, S Sigaudy, R Perveen, M Marche, I Burgelin, M Stef, ... Journal of medical genetics 43 (5), 401-405, 2006 | 256 | 2006 |
| Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas MJ Smith, J O'Sullivan, SS Bhaskar, KD Hadfield, G Poke, J Caird, ... Nature genetics 45 (3), 295-298, 2013 | 243 | 2013 |
| Identification of mutations in CUL7 in 3-M syndrome C Huber, D Dias-Santagata, A Glaser, J O'Sullivan, R Brauner, K Wu, ... Nature genetics 37 (10), 1119-1124, 2005 | 204 | 2005 |
| Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa AE Davidson, ID Millar, JE Urquhart, R Burgess-Mullan, Y Shweikh, ... The American Journal of Human Genetics 85 (5), 581-592, 2009 | 200 | 2009 |
| 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 |
| Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome J Clayton-Smith, J O'Sullivan, S Daly, S Bhaskar, R Day, B Anderson, ... The American Journal of Human Genetics 89 (5), 675-681, 2011 | 193 | 2011 |
| Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome J O'Sullivan, CC Bitu, SB Daly, JE Urquhart, MJ Barron, SS Bhaskar, ... The American Journal of Human Genetics 88 (5), 616-620, 2011 | 190 | 2011 |
| Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell‐defective apoptosis and hyperproliferation A Belot, PR Kasher, EW Trotter, AP Foray, AL Debaud, GI Rice, ... Arthritis & Rheumatism 65 (8), 2161-2171, 2013 | 177 | 2013 |
| A paradigm shift in the delivery of services for diagnosis of inherited retinal disease J O'Sullivan, BG Mullaney, SS Bhaskar, JE Dickerson, G Hall, A O'Grady, ... Journal of medical genetics 49 (5), 322-326, 2012 | 172 | 2012 |
| 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 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 | 140 | 2016 |
| Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth D Hanson, PG Murray, J O'Sullivan, J Urquhart, S Daly, SS Bhaskar, ... The American Journal of Human Genetics 89 (1), 148-153, 2011 | 126 | 2011 |
| 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 |
| Kidney single-cell atlas reveals myeloid heterogeneity in progression and regression of kidney disease BR Conway, ED O’Sullivan, C Cairns, J O’Sullivan, DJ Simpson, ... Journal of the American Society of Nephrology 31 (12), 2833-2854, 2020 | 121 | 2020 |
| ACTB loss-of-function mutations result in a pleiotropic developmental disorder S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ... The American Journal of Human Genetics 101 (6), 1021-1033, 2017 | 107 | 2017 |
| 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 |
| Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus K Mitchell, J O'Sullivan, C Missero, E Blair, R Richardson, B Anderson, ... The American Journal of Human Genetics 90 (1), 69-75, 2012 | 107 | 2012 |
