Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Yael Prawer"'
Autor:
Rigan Tytherleigh, Yael Prawer, Peter G. Kerr, Clara Gaff, Matthew F. Hunter, John Whitlam, Susan M. White, Ella J Wilkins, Sebastian Lunke, Kathleen Nicholls, Kirsty West, Elly Lynch, Mathew Wallis, Belinda Creighton, Chirag Patel, Giulia M Valente, Andrew Talbot, Elizabeth Donaldson, Emma I. Krzesinski, Louise Wardrop, Jessica Ryan, Melissa Martyn, Kushani Jayasinghe, Anna Jarmolowicz, Andrew Mallett, Zornitza Stark, Alison H. Trainer, Catherine Quinlan, Emily J See, Lilian Johnstone
Publikováno v:
Genetics in Medicine
Purpose To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. Methods We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ce68ae635ad6990da54397a9010d63
https://doi.org/10.1038/s41436-020-00963-4
https://doi.org/10.1038/s41436-020-00963-4
Autor:
Melissa Martyn, Zornitza Stark, George McGillivray, Alison Yeung, Sebastian Lunke, Callum McEwan, Dean Phelan, Susan M. White, Yael Prawer, Giulia M Valente, Clara Gaff, Ilias Goranitis, Yana Smagarinsky, Lilian Downie, Martin B. Delatycki, Anna Jarmolowicz, Gemma R Brett, Natasha J Brown, Smitha Kumble, Ravi Savarirayan, Matthew Regan, Chloe A Stutterd, Tiong Yang Tan, Matthew F. Hunter, Rachel Stapleton, Natalie B Tan, Belinda Chong
Publikováno v:
Genetics in Medicine. 22:1986-1993
Purpose Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions are limited by the lack of well-defined comparative cohorts. We sought to evaluate the cost-effectiveness of early GS in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db3b5584f502c895ecc5d1379b61babc
https://doi.org/10.1038/s41436-020-0929-8
https://doi.org/10.1038/s41436-020-0929-8
Autor:
Rachel Stapleton, Natalie B Tan, Belinda Chong, Gemma R Brett, Justine Elliott, Sebastian Lunke, Dean Phelan, Matthew F. Hunter, Alison Yeung, Susan M. White, Jessica R. Riseley, Zornitza Stark, Anna Jarmolowicz, Tiong Yang Tan, Melissa Martyn, S Kumble, Yael Prawer, Stephanie Best, Clara Gaff, Matthew Regan, Miriam Fanjul-Fernández, Justine E. Marum
Publikováno v:
Genetics in Medicine. 20:1554-1563
The purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Rapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::362cc62c28d357a135446a4a96c57ce6
https://doi.org/10.1038/gim.2018.37
https://doi.org/10.1038/gim.2018.37
Autor:
Maie Walsh, Joshua Schultz, Sebastian Lunke, Paul A. James, Tianxin Pan, Zornitza Stark, Ilias Goranitis, Zanfina Ademi, Anna Jarmolowicz, Mathew Wallis, Dennis Velakoulis, Belinda Creighton, Aamira Huq, Michael C Fahey, Kirsty West, Dean Phelan, Yael Prawer, J. Taylor, Martin B. Delatycki, Melanie O'Keefe, Amy L Schneider, Clara Gaff, Ella Lynch, Yana Smagarinsky, Haloom Rafehi, Eloise Uebergang, Dhamidhu Eratne, Rebecca Purvis, Heather Chalinor, Chloe A Stutterd, Emma I. Krzesinski, Melissa Martyn, Kirby Siemering, Patrick Kwan, Samuel F. Berkovic, Nikki Gelfand, Belinda Chong, Tamar Saks, Melanie Bahlo, Richard J. Leventer, Adrienne Sexton
Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for adult neurological disorders. Studies have focused on paediatric populations in research or highly specialised settings,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7036dfbb78e1ed249f7d35d0651934a7
https://hdl.handle.net/10453/154663
https://hdl.handle.net/10453/154663
Autor:
Yael Prawer, Clara Gaff, Susan P. Walker, Jackie Collett, Stacey Prystupa, George McGillivray, Katherine Rose, Zornitza Stark, Gemma R Brett, Mark Teoh, Samantha Ayres, Alison Yeung, Fiona Y. Chan, Anna Jarmolowicz, Yuen Chan, Candice Dao, Trishe Leong, Belinda Chong, Kerryn Ireland-Jenkin, Anand Vasudevan, Lisa Hui, Tenielle Davis, Heather Chalinor, Shelley Rowlands, Sebastian Lunke, Susan Fawcett, Melissa Martyn, Melissa Graetz, Elly Lynch
Publikováno v:
Pathology. 52:S68-S69
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3054281f8dac65ac0976606e7e3432a
https://doi.org/10.1016/j.pathol.2020.01.224
https://doi.org/10.1016/j.pathol.2020.01.224
Autor:
Yael Prawer, Elly Lynch, Ella J Wilkins, Anna I Jarmolowicz, Giulia M Valente, Kirsty West, Gemma R Brett, Ivan Macciocca, Emma Creed
Publikováno v:
Journal of genetic counseling. 27(5)
As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic healthcare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::148e9cfb24e5f18e183e06fdf45ed654
https://pubmed.ncbi.nlm.nih.gov/29368275
https://pubmed.ncbi.nlm.nih.gov/29368275
Autor:
Essra Bartlett, Michael C Fahey, Ling Ling, David Francis, Matthew F. Hunter, David E. Godler, Nikki Gelfand, Sara Cronin, Solange Aliaga Vera, Ralph Oertel, Yael Prawer
Publikováno v:
Genes
Genes, Vol 9, Iss 6, p 287 (2018)
Genes, Vol 9, Iss 6, p 287 (2018)
Fragile X syndrome (FXS) is usually associated with a CGG repeat expansion >200 repeats within the FMR1 gene, known as a full mutation (FM). FM alleles produce abnormal methylation of the FMR1 promoter with reduction or silencing of FMR1 gene express
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e181f5c03452fed2733d000fc1107c0
https://doi.org/10.3390/genes9060287
https://doi.org/10.3390/genes9060287
Autor:
Matthew F. Hunter, Sebastian Lunke, Yael Prawer, Clara Gaff, Jessica R. Riseley, Gemma R Brett, Alison Yeung, Rachel Stapleton, Dean Phelan, Zornitza Stark, Natalie B Tan, Belinda Chong, Smitha Kumble, Melissa Martyn, Tiong Yang Tan, Susan M. White, Stephanie Best, Matthew Regan, Justine Elliott, Miriam Fanjul Fernandez, Anna Jarmolowicz, Justine E. Marum
Publikováno v:
Pathology. 50:S59
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7f6a7f9e912bc19320c1dfdbe478168
https://doi.org/10.1016/j.pathol.2017.12.138
https://doi.org/10.1016/j.pathol.2017.12.138