Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Stephanie, Broley"'
Autor:
Timo Lassmann, Richard W. Francis, Alexia Weeks, Dave Tang, Sarra E. Jamieson, Stephanie Broley, Hugh J. S. Dawkins, Lauren Dreyer, Jack Goldblatt, Tudor Groza, Benjamin Kamien, Cathy Kiraly-Borri, Fiona McKenzie, Lesley Murphy, Nicholas Pachter, Gargi Pathak, Cathryn Poulton, Amanda Samanek, Rachel Skoss, Jennie Slee, Sharron Townshend, Michelle Ward, Gareth S. Baynam, Jenefer M. Blackwell
Publikováno v:
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
Abstract Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25−30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patie
Externí odkaz:
https://doaj.org/article/811cb355cf5b4897b431fd467c9f3752
Autor:
Louise J Tofts, Jennifer A Armstrong, Stephanie Broley, Theresa Carroll, Penelope J Ireland, Minna Koo, Katherine Langdon, Lesley McGregor, Fiona McKenzie, Divyesh Mehta, Ravi Savarirayan, Tracy Tate, Alison Wesley, Andreas Zankl, Maree Jenner, Marta Eyles, Verity Pacey
Publikováno v:
Journal of Paediatrics and Child Health. 59:229-241
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b4c55646fec48dc6a08b8bc59329dc1
https://doi.org/10.1111/jpc.16290
https://doi.org/10.1111/jpc.16290
Autor:
Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Sharron Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Lyn Schofield, Petra Helmholz, Richard Palmer, Stefanie Kung, Caroline E. Walker, Caron Molster, Barry Lewis, Kym Mina, John Beilby, Gargi Pathak, Cathryn Poulton, Tudor Groza, Andreas Zankl, Tony Roscioli, Marcel E. Dinger, John S. Mattick, William Gahl, Stephen Groft, Cynthia Tifft, Domenica Taruscio, Paul Lasko, Kenjiro Kosaki, Helene Wilhelm, Bela Melegh, Jonathan Carapetis, Sayanta Jana, Gervase Chaney, Allison Johns, Peter Wynn Owen, Frank Daly, Tarun Weeramanthri, Hugh Dawkins, Jack Goldblatt
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Background New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-spe
Externí odkaz:
https://doaj.org/article/fd1d44fbca064efaae5bfc0d962bda6b
Autor:
Ann Nordgren, Stephanie Broley, Mengchun Gong, James Chipeta, Zhang Shuyang, Durhane Wong-Rieger, Stephen C. Groft, Benjamin Djoudalbaye, Kristen J. Nowak, Maja Stojiljkovic, Kenjiro Kosaki, William A. Gahl, Safiyya D. Gassman, Maximilian Muenke, Sarah Bowdin, Emily P. Coles, David R. Adams, Judit Kumuthini, Manuel Posada, Tebogo Selebatso, Christopher P. Austin, Annika Larsson, Moses Selebatso, Eda Selebatso, Ruty Mehrian-Shai, Ratna D. Puri, Helene Cederroth, Christoffer Nellåker, Barbara Wuebbels, Gareth Baynam, Virginia A. Llera, Domenica Taruscio, Simon Easteal, Juergen K. V. Reichardt, Nicholas Pachter, Sergi Beltran, Maryke Schoonen, Dipesalema Joel, Feng Zhang, Francois H. van der Westhuizen, Barend Christiaan Vorster, Kelly du Plessis, Désirée Gavhed, Kym M. Boycott, Emilio J. A. Roldán, Petra Kaufmann, John Forman, Gemma A. Bilkey, Boikobo Gaobinelwe, Clara D.M. van Karnebeek
Publikováno v:
Nature genetics, 52(1), 21-26. Nature Publishing Group
The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86f7f31a448ab77036985962a4f2352
https://doi.org/10.1038/s41588-019-0552-2
https://doi.org/10.1038/s41588-019-0552-2
Autor:
Jenefer M. Blackwell, Gargi Pathak, Hugh Dawkins, Cathryn Poulton, Lauren Dreyer, Alexia L. Weeks, Fiona Haslam McKenzie, Amanda Samanek, Jack Goldblatt, Richard W. Francis, Nicholas Pachter, Gareth Baynam, Lesley Murphy, Michelle Ward, Timo Lassmann, Tudor Groza, Cathy Kiraly-Borri, Benjamin Kamien, Jennie Slee, Stephanie Broley, Dave Tang, Sharron Townshend, Sarra E. Jamieson, Rachel Skoss
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25−30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a49482666f88803bcdf5a9606243df7
http://europepmc.org/articles/PMC7730424
http://europepmc.org/articles/PMC7730424
Autor:
S. Ordorica, E. Creede, David A. Dyment, Kym M. Boycott, L. Gallagher, D. Lahey, P. Y B Au, K. Mina, Stephanie Broley, Gareth Baynam, L. Huang
Publikováno v:
European Journal of Medical Genetics. 60:359-364
The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies. The X-chromosome is known to contain many ID-related genes and males show a marked predominance for intellectual disability. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9b9a448d161d88965a4194740e0d554
https://doi.org/10.1016/j.ejmg.2017.03.013
https://doi.org/10.1016/j.ejmg.2017.03.013
Autor:
Emma McCormack, Hugh Dawkins, Vanessa Atkinson, Lauren Dreyer, Barry Lewis, Gareth Baynam, John Beilby, Dylan Gration, Lisa Ewans, Cathryn Poulton, Richard Palmer, Stephanie Broley, Dimitar N. Azmanov, Vinutha B Shetty, Ciara Peake
Publikováno v:
American journal of medical genetics. Part A. 176(12)
Silver-Russell syndrome (SRS OMIM 180860) is a rare, albeit well-recognized disorder characterized by severe intrauterine and postnatal growth retardation. It remains a clinical diagnosis with a molecular cause identifiable in approximately 60%-70% o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e93ad2d524a25cf53302b6aa838a0388
https://pubmed.ncbi.nlm.nih.gov/30152198
https://pubmed.ncbi.nlm.nih.gov/30152198
Autor:
Gareth, Baynam, Faye, Bowman, Karla, Lister, Caroline E, Walker, Nicholas, Pachter, Jack, Goldblatt, Kym M, Boycott, William A, Gahl, Kenjiro, Kosaki, Takeya, Adachi, Ken, Ishii, Trinity, Mahede, Fiona, McKenzie, Sharron, Townshend, Jennie, Slee, Cathy, Kiraly-Borri, Anand, Vasudevan, Anne, Hawkins, Stephanie, Broley, Lyn, Schofield, Hedwig, Verhoef, Tudor, Groza, Andreas, Zankl, Peter N, Robinson, Melissa, Haendel, Michael, Brudno, John S, Mattick, Marcel E, Dinger, Tony, Roscioli, Mark J, Cowley, Annie, Olry, Marc, Hanauer, Fowzan S, Alkuraya, Domenica, Taruscio, Manuel, Posada de la Paz, Hanns, Lochmüller, Kate, Bushby, Rachel, Thompson, Victoria, Hedley, Paul, Lasko, Kym, Mina, John, Beilby, Cynthia, Tifft, Mark, Davis, Nigel G, Laing, Daria, Julkowska, Yann, Le Cam, Sharon F, Terry, Petra, Kaufmann, Iiro, Eerola, Irene, Norstedt, Ana, Rath, Makoto, Suematsu, Stephen C, Groft, Christopher P, Austin, Ruxandra, Draghia-Akli, Tarun S, Weeramanthri, Caron, Molster, Hugh J S, Dawkins
Publikováno v:
Advances in experimental medicine and biology. 1031
Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d338f975167a87d113f2dada5e5e51f9
https://pubmed.ncbi.nlm.nih.gov/29214566
https://pubmed.ncbi.nlm.nih.gov/29214566
Autor:
Cathy Kiraly-Borri, Peter Wynn Owen, Nicholas Pachter, Stefanie Kung, Stephanie Broley, Caroline E. Walker, Hugh Dawkins, Kenjiro Kosaki, Béla Melegh, Gervase Chaney, Jennie Slee, Cathryn Poulton, Caron Molster, Jack Goldblatt, Richard Palmer, Anand Vasudevan, Allison Johns, William A. Gahl, Frank Daly, Helene Wilhelm, John S. Mattick, Andreas Zankl, Sayanta Jana, Fiona Haslam McKenzie, Gargi Pathak, Tarun Weeramanthri, Tony Roscioli, Anne Hawkins, Petra Helmholz, Tudor Groza, Gareth Baynam, John Beilby, Cynthia J. Tifft, Barry Lewis, Stephen C. Groft, Jonathan R. Carapetis, Domenica Taruscio, Kym Mina, Paul Lasko, Sharron Townshend, Alicia Bauskis, Lyn Schofield, Marcel E. Dinger
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Background New approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfef231e392195a336212d710a86f215
http://europepmc.org/articles/PMC5415708
http://europepmc.org/articles/PMC5415708
Autor:
Michael Brudno, Victoria Hedley, Anne Hawkins, Anand Vasudevan, Cynthia J. Tifft, Ruxandra Draghia-Akli, Christopher P. Austin, Stephen C. Groft, Paul Lasko, Nigel G. Laing, Hedwig Verhoef, Iiro Eerola, Tudor Groza, Cathy Kiraly-Borri, Lyn Schofield, Melissa A. Haendel, Trinity Mahede, John S. Mattick, Stephanie Broley, Hugh Dawkins, Rachel Thompson, Yann Le Cam, Jack Goldblatt, Peter N. Robinson, Kate Bushby, Nicholas Pachter, Kenjiro Kosaki, Caroline E. Walker, Daria Julkowska, Gareth Baynam, Domenica Taruscio, Hanns Lochmüller, Marcel E. Dinger, Manuel Posada de la Paz, Caron Molster, Annie Olry, William A. Gahl, Jennie Slee, Sharron Townshend, Andreas Zankl, Fowzan S. Alkuraya, Fiona Haslam McKenzie, Faye L. Bowman, Makoto Suematsu, Tarun Weeramanthri, Ken Ishii, Takeya Adachi, Petra Kaufmann, Kym M. Boycott, Mark M. Davis, Kym Mina, Karla J. Lister, John Beilby, Irene Norstedt, Marc Hanauer, Tony Roscioli, Ana Rath, Mark J. Cowley, Sharon F. Terry
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9783319671420
Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc69c63b74f6c84288a5ae96442e6df7
https://doi.org/10.1007/978-3-319-67144-4_4
https://doi.org/10.1007/978-3-319-67144-4_4
