Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Elizabeth, Ormondroyd"'
Autor:
Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l
Externí odkaz:
https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc
Autor:
Masliza Mahmod, Betty Raman, Kenneth Chan, Sanjay Sivalokanathan, Robert W. Smillie, Azlan H. Abd Samat, Rina Ariga, Sairia Dass, Elizabeth Ormondroyd, Hugh Watkins, Stefan Neubauer
Publikováno v:
Journal of Cardiovascular Magnetic Resonance, Vol 24, Iss 1, Pp 1-12 (2022)
Abstract Background The right ventricle (RV) in hypertrophic cardiomyopathy (HCM) tends to be neglected, as previous efforts have predominantly focused on examining the prognostic value of left ventricular (LV) abnormalities. The objectives of this s
Externí odkaz:
https://doaj.org/article/9e47bbc9e8be4cc7b88704a87587ba28
Autor:
Betty Raman, Robert W. Smillie, Masliza Mahmod, Kenneth Chan, Rina Ariga, Chrysovalantou Nikolaidou, Elizabeth Ormondroyd, Kate Thomson, Andrew R. Harper, Gifford Tan, Adam J. Lewandowski, Fernando Rodriguez Bajo, Eleanor C. Wicks, Barbara Casadei, Hugh Watkins, Stefan Neubauer
Publikováno v:
Journal of Cardiovascular Magnetic Resonance, Vol 23, Iss 1, Pp 1-14 (2021)
Abstract Background Left atrial (LA) size and function are known predictors of new onset atrial fibrillation (AF) in hypertrophic cardiomyopathy (HCM) patients. Components of LA deformation including reservoir, conduit, and booster function provide a
Externí odkaz:
https://doaj.org/article/bda972c1909b40ed83115ae9489c0ca2
Autor:
Ryan M. Baxley, Wendy Leung, Megan M. Schmit, Jacob Peter Matson, Lulu Yin, Marissa K. Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B. Rogers, Adam J. Harvey, Debashree Basu, Jenny C. Taylor, Alistair T. Pagnamenta, Helene Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh Watkins, Eric A. Hendrickson, Emily M. Mace, Jordan S. Orange, Hideki Aihara, Grant S. Stewart, Edward Blair, Jeanette Gowen Cook, Anja-Katrin Bielinsky
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Minichromosome maintenance protein 10 (MCM10) is critical for eukaryotic DNA replication. Here, by modelling MCM10 variants in human cell lines, the authors reveal a mechanism of MCM10-associated disease, finding that loss of MCM10 function constrain
Externí odkaz:
https://doaj.org/article/fcda6dd35e9949f888622bfe0a813011
Autor:
John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C. Taylor, Kate L. Thomson, Hugh Watkins, Andrew O. M. Wilkie, Julian C. Knight
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)
Abstract Background A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here
Externí odkaz:
https://doaj.org/article/cdc63af88c78403ab16517dff6627483
Autor:
Joshua J. Nolan, Elizabeth Ormondroyd
Publikováno v:
Clinical Genetics.
Autor:
Kathryn A. McGurk, Xiaolei Zhang, Pantazis Theotokis, Kate Thomson, Andrew Harper, Rachel J. Buchan, Erica Mazaika, Elizabeth Ormondroyd, William T. Wright, Daniela Macaya, Chee Jian Pua, Birgit Funke, Daniel G. MacArthur, Sanjay Prasad, Stuart A. Cook, Mona Allouba, Yasmine Aguib, Magdi H. Yacoub, Declan P. O’Regan, Paul J. R. Barton, Hugh Watkins, Leonardo Bottolo, James S. Ware
Understanding the penetrance of pathogenic variants identified as secondary findings (SFs) is of paramount importance with the growing availability of genetic testing. We estimated penetrance through large-scale analyses of patients referred for diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::75738ceeb386549240e3ad0a8142aa93
https://doi.org/10.1101/2023.03.15.23287112
https://doi.org/10.1101/2023.03.15.23287112
Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic and polygenic components. We here report results from the largest HCM genome-wide association study (GWAS) and multi-trait analysis (MTAG) includin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b096ea149b4cef3a6f584f75f7ecca4d
https://doi.org/10.1101/2023.01.28.23285147
https://doi.org/10.1101/2023.01.28.23285147
Autor:
Danya F. Vears, Nina Hallowell, Heidi Beate Bentzen, Bridget Ellul, Therese Haugdahl Nøst, Angeliki Kerasidou, Shona M. Kerr, Michaela Th. Mayrhofer, Signe Mežinska, Elizabeth Ormondroyd, Berge Solberg, Birgitte Wirum Sand, Isabelle Budin-Ljøsne
Publikováno v:
European Journal of Human Genetics
Vears, D F, Hallowell, N, Bentzen, H B, Ellul, B, Nost, T H, Kerasidou, A, Kerr, S, Mayrhofer, M T, Mežinska, S, Ormondroyd, E, Solberg, B, Sand, B W & Budin-Ljøsne, I 2023, ' A practical checklist for return of results from genomic research in the European context ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-023-01328-6
Vears, D F, Hallowell, N, Bentzen, H B, Ellul, B, Nost, T H, Kerasidou, A, Kerr, S, Mayrhofer, M T, Mežinska, S, Ormondroyd, E, Solberg, B, Sand, B W & Budin-Ljøsne, I 2023, ' A practical checklist for return of results from genomic research in the European context ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-023-01328-6
An increasing number of European research projects return, or plan to return, individual genomic research results (IRR) to participants. While data access is a data subject’s right under the General Data Protection Regulation (GDPR), and many legal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9232ebb221b80efe1ce2ba9841493e4e
https://hdl.handle.net/11250/3065469
https://hdl.handle.net/11250/3065469
Autor:
Rina Ariga, Petros Nihoyannopoulos, Elizabeth Ormondroyd, Aslan T. Turer, Perry M. Elliott, João B. Augutsto, Gabriella Captur, Rhodri H. Davies, Savvas Loizos, Charlotte Manisty, Alan G. Fraser, Diego Perez de Arenaza, Mark Westwood, Ilaria Lobascio, Andrew J. Taylor, Steffen E. Petersen, Claudia Camaioni, Timothy C. Wong, Vlad G. Zaha, Mouaz H. Al-Mallah, Betty Raman, Iacopo Olivotto, Arthur Nasis, Alberto Marchi, Shiro Nakamori, Hugh Watkins, Raymond Y. Kwong, Vimal Patel, Carolyn Y. Ho, Stefan Neubauer, Anish N Bhuva, Reza Nezafat, Lijun Tang, Guy Lloyd, Jenade Bonsu-Ofori, Chunming Li, Sinitsyn Valentin, James C. Moon
Publikováno v:
JACC: Cardiovascular Imaging. 14:2123-2134
Objectives\udThe aim of this study was to define the variability of maximal wall thickness (MWT) measurements across modalities and predict its impact on care in patients with hypertrophic cardiomyopathy (HCM).\ud\udBackground\udLeft ventricular MWT