Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Antonio Rueda-Martin"'
Autor:
Nirupa Murugaesu, Alona Sosinsky, John Ambrose, William Cross, Clare Turnbull, Shirley Henderson, J Jones, Angela Hamblin, Prabhu Arumugam, Georgia Chan, Daniel Chubb, Boris Noyvert, Jonathan Mitchell, Susan Walker, Katy Bowman, Dorota Pasko, Marianna Pereira, Nadezda Volkova, Antonio Rueda-Martin, Daniel Perez Gil, Javier Lopez, John Pullinger, Afshan Siddiq, Tala Zainy, Tasnim Choudhury, Augusto Rendon, Tom Fowler, Sandra Hing, Zandra Deans, Genomics England Research Consortium Genomics England Resear Consortium, Sue Hill, Mark Caulfield
The Cancer Programme of the 100,000 Genomes Project was a transformational UK government initiative that aimed to bring whole genome sequencing (WGS) to cancer patients and evaluate the opportunities for precision cancer care. Genomics England, in pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b135a83659ef8f40360e4d681e001a7
https://doi.org/10.21203/rs.3.rs-2394107/v1
https://doi.org/10.21203/rs.3.rs-2394107/v1
Autor:
Elena Savva, Ivan Macciocca, Tiong Yang Tan, Victor S Lin, Ivone U.S. Leong, Mark J. Caulfield, Richard H. Scott, Ana Lisa Taylor Tavares, Crystle Lee, Kevin Savage, Kathryn N. North, Olivia Niblock, Christopher Boustred, Sarah Leigh, Arina Puzriakova, Ellen M. McDonagh, Alison Yeung, William Bellamy, Catherine E. Snow, Ellen R.A. Thomas, Antonio Rueda-Martin, Paul De Fazio, Bryony A. Thompson, Louise C. Daugherty, Helen K. Brittain, Eleanor Williams, Chirag Patel, Oliver Hofmann, Ain Roesley, Zornitza Stark, Jane Deller, Zandra C. Deans, Susan M. White, Rebecca E. Foulger, Lilian Downie, Sue Hill, Augusto Rendon, Sebastian Lunke, Meriel McEntagart, Oleg Gerasimenko, Lavinia Gordon, Roman Valls
Publikováno v:
Am J Hum Genet
Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these assessments for virtual gene panel design and maintenance. Ha
Autor:
Arianna Tucci, Mark J. Caulfield, Eik Haraldsdottir, Damian Smedley, Kristina Ibáñez, Sarah Leigh, Olivia Niblock, Antonio Rueda Martin, Ivone U. S. Leong, Anna de Burca, Eleanor Williams, Rebecca E. Foulger, Richard H Scott, Ellen M. McDonagh, Emma L. Baple, Louise C. Daugherty, Katherine R. Smith, Ellen Thomas, D. Kasperaviciute, Augusto Rendon, Oleg Gerasimenko, Helen Brittain
Publikováno v:
Nature Genetics. 51:1560-1565
A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp ( https://panelapp.genomicsengland.co.uk ), a publicly avail
Autor:
Greenhalgh L, Fowler T, Karen Temple, Kane Smith, Deshpande, Subramanian S. Ajay, Bourn D, Menzies L, James M. Polke, Pasko D, Polychronopoulos D, Augusto Rendon, Pietro Fratta, Madeleine Reilly, Daugherty L, Chitty Ls, Eggleton K, Raymond Fl, Thomas T. Warner, Paul Brennan, Sian Ellard, Denise L. Perry, Jill Davison, A. C. Need, Arianna Tucci, Prasad Korlipara Lv, Mark J. Caulfield, Meriel McEntagart, Huw R. Morris, Kikkeri N. Naresh, Jenny C. Taylor, Patrick F. Chinnery, Anette Schrag, Aditi Chawla, Deans Zc, Henry Houlden, Twiss P, Douglas A, Sheikh I, Jonathan M. Schott, Hill S, Moutsianas L, Nicholas W. Wood, Tanner Hagelstrom, Robinson R, D. Kasperaviciute, Faravelli F, Rajan, Kristina Ibáñez, Antonio Rueda Martin, Emma L. Baple, Robin Howard, Ellen M. McDonagh, Elisabeth Rosser, Oprych K, Richard Festenstein, John A. Sayer, Kailash P. Bhatia, Michael A. Eberle, Andrew D Mumford, Angus-Leppan H, Thomas E, Matilde Laura, McMullan D, Brittain H, Paola Giunti, Richard H. Scott, Wilson G, Taylor Tavares Al, Ryan J. Taft, Patch C, Hyder Z, Robyn Labrum, Almheiri G, Frances Flinter, Egor Dolzhenko, Santos L, Abbs S, William G. Newman, Jana Vandrovcova
BackgroundRepeat expansion (RE) disorders affect ~1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in under diagnosis of atypical clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::726e4fb0332468372a1aa969b249ce84
https://doi.org/10.1101/2020.11.06.371716
https://doi.org/10.1101/2020.11.06.371716
Autor:
Antonio Rueda, Martin, Eleanor, Williams, Rebecca E, Foulger, Sarah, Leigh, Louise C, Daugherty, Olivia, Niblock, Ivone U S, Leong, Katherine R, Smith, Oleg, Gerasimenko, Eik, Haraldsdottir, Ellen, Thomas, Richard H, Scott, Emma, Baple, Arianna, Tucci, Helen, Brittain, Anna, de Burca, Kristina, Ibañez, Dalia, Kasperaviciute, Damian, Smedley, Mark, Caulfield, Augusto, Rendon, Ellen M, McDonagh
Publikováno v:
Nature genetics. 51(11)
Autor:
Antonio Rueda-Martin, Karishma D’Sa, Augusto Rendon, Henry Houlden, John Hardy, Daniel F. O. Onah, Juan A. Botía, Ellen M. McDonagh, Arianna Tucci, David Zhang, Regina Reinolds, Mina Ryten, Sebastian Guelfi
To facilitate precision medicine and neuroscience research, we developed a machine-learning technique that scores the likelihood that a gene, when mutated, will cause a neurological phenotype. We analysed 1126 genes relating to 25 subtypes of Mendeli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ecca42702b94d4bb1ae6db143d4769
Autor:
Enric Serra, Alona Sosinsky, Anna Schuh, John Ambrose, Martina Mijuskovic, Shirley Henderson, Antonio Rueda-Martin, Nirupa Murugaesu, Mark J. Caulfield, Angela Hamblin, Daniel Perez-Gil, Pavlos Antoniou, Augusto Rendon, Clare Turnbull
Publikováno v:
Cancer Research. 78:434-434
The 100,000 Genomes Project aims to improve cancer care for patients in the UK's National Health Service by applying personalized medicine paradigms based on whole-genome sequencing (WGS). The program has been designed to enable return of WGS-based r
Autor:
Adam Toms, Ellen Thomas, Richard H Scott, C. E. H. Craig, Dina Halai, Augusto Rendon, Ellen M. McDonagh, Antonio Rueda Martin, N. Murugaesu, Tom Fowler, Louise Jones, Clare Turnbull, Lisa Dinh, Alona Sosinsky, Mark J. Caulfield, Angela Hamblin, Shirley Henderson, Michael J. Mueller, Christine Patch, Amanda O’Neill, Tim Hubbard, Sue Hill, Emma L. Baple, Damian Smedley, Razvan Sultana, Andrew D. Devereau, Katherine R. Smith, Mark Bale, Freya Boardman Pretty
Publikováno v:
Turnbull, C, Scott, R H, Thomas, E, Jones, L, Murugaesu, N, Pretty, F B, Halai, D, Baple, E, Craig, C, Hamblin, A, Henderson, S, Patch, C, O'Neill, A, Devereaux, A, Smith, K, Martin, A R, Sosinsky, A, McDonagh, E M, Sultana, R, Mueller, M, Smedley, D, Toms, A, Dinh, L, Fowler, T, Bale, M, Hubbard, T, Rendon, A & Hill, S & Caulfield, M J 2018, ' The 100 000 Genomes Project : bringing whole genome sequencing to the NHS ', BMJ, vol. 361, no. 0, k1687 . https://doi.org/10.1136/bmj.k1687
In partnership with NHS England, Genomics England’s ambitious plans to embed genomic medicine into routine patient care are well underway. Clare Turnbull and colleagues discuss its progress
Autor:
Carmel Toomes, Gavin Arno, Anthony T. Moore, Martin McKibbin, Andrew R. Webster, Manir Ali, Nikolas Pontikos, Katherine R. Smith, Jill Clayton-Smith, James A. Poulter, Jiten Morarji, Alison J. Hardcastle, Rachel L. Taylor, Chris F. Inglehearn, Michel Michaelides, Graeme C.M. Black, Sarah Hull, Stephanie Grunewald, Antonio Rueda Martin, Kamron N. Khan
Publikováno v:
JAMA Ophthalmology. 135:339
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to