Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Peter O’Donovan"'
Autor:
Nicola Cosgrove, Alex J. Eustace, Peter O’Donovan, Stephen F. Madden, Bruce Moran, John Crown, Brian Moulton, Patrick G. Morris, Liam Grogan, Oscar Breathnach, Colm Power, Michael Allen, Janice M. Walshe, Arnold D. Hill, Anna Blümel, Darren O’Connor, Sudipto Das, Małgorzata Milewska, Joanna Fay, Elaine Kay, Sinead Toomey, Bryan T. Hennessy, Simon J. Furney
Publikováno v:
npj Breast Cancer, Vol 9, Iss 1, Pp 1-16 (2023)
Abstract HER2-positive (HER2+) breast cancer accounts for 20–25% of all breast cancers. Predictive biomarkers of neoadjuvant therapy response are needed to better identify patients with early stage disease who may benefit from tailored treatments i
Externí odkaz:
https://doaj.org/article/2aa94f4a6ce8446ea48464a6049912d0
Autor:
Eric Olinger, Ian J. Wilson, Sarah Orr, Miguel Barroso-Gil, Ruxandra Neatu, Denize Atan, John A. Sayer, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)
Purpose: In parent-child trios with genome sequencing data, we investigated inherited biallelic deletions to identify known and novel genetic disorders. Methods: We developed a copy-number variations analysis pipeline based on autosomal genome sequen
Externí odkaz:
https://doaj.org/article/428632089e9d4e95b7ebde0ffccbd212
Autor:
Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-11 (2022)
Abstract Background Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving the clinical interpretation of
Externí odkaz:
https://doaj.org/article/dfdeeb798f424c30af5b1c761fbdb704
Publikováno v:
International Journal of Prognostics and Health Management, Vol 10, Iss 1 (2019)
Wind turbines generate a wealth of data which can be effectively used to improve maintenance strategies and drive down operations and maintenance ( O & M ) costs, which account for 20-25 % of the cost of generation of wind energy. Data-driven techniq
Externí odkaz:
https://doaj.org/article/2940dddba94a473f8ea01cf5e96cfdf9
Publikováno v:
Future Internet, Vol 11, Iss 8, p 174 (2019)
The application of blockchain technology to the energy sector promises to derive new operating models focused on local generation and sustainable practices, which are driven by peer-to-peer collaboration and community engagement. However, real-world
Externí odkaz:
https://doaj.org/article/6de3ff3a602443b1a630843c63112bde
Publikováno v:
International Journal of Prognostics and Health Management, Vol 7, Iss 4 (2016)
Industrial big data analytics is an emerging multidisciplinary field, which incorporates aspects of engineering, statistics and computing, to produce data-driven insights that can enhance operational efficiencies, and produce knowledgebased competiti
Externí odkaz:
https://doaj.org/article/30436abe813a4bddb5af7df682517de6
Publikováno v:
International Journal of Prognostics and Health Management, Vol 7, Iss 3 (2016)
Integrated, real-time and open approaches relating to the development of industrial analytics capabilities are needed to support smart manufacturing. However, adopting industrial analytics can be challenging due to its multidisciplinary and cross-dep
Externí odkaz:
https://doaj.org/article/3b5053e883804164954bd714519f7a5e
Publikováno v:
Energies, Vol 11, Iss 7, p 1738 (2018)
Using 10-minute wind turbine supervisory control and data acquisition (SCADA) system data to predict faults can be an attractive way of working toward a predictive maintenance strategy without needing to invest in extra hardware. Classification metho
Externí odkaz:
https://doaj.org/article/e3e490630d5d4e8cb2ecc9fe81768036
Publikováno v:
Obstetrics and Gynecology International, Vol 2012 (2012)
The use of thermal energy-based systems to treat uterine fibroids has resulted in a plethora of devices that are less invasive and potentially as effective in reducing symptoms as traditional options such as myomectomy. Most thermal ablation devices
Externí odkaz:
https://doaj.org/article/822433126f7d499eb9ed6bf5ec4ae909
Autor:
Samar Yahya, Claire E.L. Smith, James A. Poulter, Martin McKibbin, Gavin Arno, Jamie Ellingford, Kati Kämpjärvi, Muhammad I. Khan, Frans P.M. Cremers, Alison J. Hardcastle, Bruce Castle, David H.W. Steel, Andrew R. Webster, Graeme C. Black, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn, Stuart Ingram, Rachel Taylor, Forbes Manson, Panagiotis Sergouniotis, Nikolas Pontikos, Michael Cheetham, Alessia Fiorentino, Susan Downes, Jing Yu, Stephanie Halford, Suzanne Broadgate, Veronica van Heyningen, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
Publikováno v:
Ophthalmology, 130, 68-76
Ophthalmology, 130, 1, pp. 68-76
Ophthalmology, 130, 1, pp. 68-76
To characterize the phenotype observed in a case series with macular disease and determine the cause.Multicenter case series.Six families (7 patients) with sporadic or multiplex macular disease with onset at 20 to 78 years, and 1 patient with age-rel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507827933b913ead226b13ff8c186891
https://doi.org/10.1016/j.ophtha.2022.07.023
https://doi.org/10.1016/j.ophtha.2022.07.023