Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy PI Sergouniotis, C Chakarova, C Murphy, M Becker, E Lenassi, G Arno, ... The American Journal of Human Genetics 94 (5), 760-769, 2014 | 69 | 2014 |
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing LM Nunn, LR Lopes, P Syrris, C Murphy, V Plagnol, E Firman, ... Europace 18 (6), 888-896, 2016 | 67 | 2016 |
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data N Pontikos, J Yu, I Moghul, L Withington, F Blanco-Kelly, T Vulliamy, ... Bioinformatics 33 (15), 2421-2423, 2017 | 37 | 2017 |
Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy LR Lopes, C Murphy, P Syrris, C Dalageorgou, WJ McKenna, PM Elliott, ... European journal of medical genetics 58 (11), 611-616, 2015 | 29 | 2015 |
HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3 D Dilg, RNM Saleh, SEL Phelps, Y Rose, L Dupays, C Murphy, T Mohun, ... PloS one 11 (8), e0161096, 2016 | 22 | 2016 |
Phenogenon: gene to phenotype associations for rare genetic diseases N Pontikos, C Murphy, I Moghul, G Arno, K Fujinami, Y Fujinami, ... PloS one 15 (4), e0230587, 2020 | 6 | 2020 |
Vaccination against SARS-CoV-2 protects from morbidity, mortality, and sequelae from COVID19 in patients with cancer DJ Pinato, D Ferrante, J Aguilar-Company, M Bower, R Salazar, ... European Journal of Cancer, 2022 | 1 | 2022 |
Persistence of long-term COVID-19 sequelae in patients with cancer: An analysis from the OnCovid registry A Cortellini, R Salazar, A Gennari, J Aguilar-Company, M Bower, ... European Journal of Cancer 170, 10-16, 2022 | | 2022 |
Outcomes of the SARS-CoV-2 omicron (B. 1.1. 529) variant outbreak among vaccinated and unvaccinated patients with cancer in Europe: results from the retrospective, multicentre … DJ Pinato, J Aguilar-Company, D Ferrante, G Hanbury, M Bower, ... The Lancet Oncology, 2022 | | 2022 |
COVID-19 Sequelae and the Host Pro-Inflammatory Response: An Analysis From the OnCovid Registry A Cortellini, A Gennari, F Pommeret, G Patel, T Newsom-Davis, A Bertuzzi, ... JNCI Journal of the National Cancer Institute, 2022 | | 2022 |
Heart sounds in motion A Meikle, AF Adan, F Smith, M Bragagnolo, N Uren, C Murphy, ... Clinical Medicine 19 (Suppl 2), 148, 2019 | | 2019 |
Assessment of DemDx, a differential diagnosis tool, and its accuracy at diagnosing patients in an ED setting C Murphy, L Gresser Future Healthcare Journal 6 (Suppl 1), 100, 2019 | | 2019 |
Dissecting the genetic architecture of cardiac disorders through the use of next generation sequencing C Murphy UCL (University College London), 2016 | | 2016 |
Functional mapping of gene deserts in Crohn’s disease C Murphy, N Prescott, C Mathew F1000Research 2, 2011 | | 2011 |