Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kirsty West"'
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:
Maie Walsh, Kirsty West, Jessica A. Taylor, Bryony A. Thompson, Adelaide Hopkins, Adrienne Sexton, Abiramy Ragunathan, Kunal P. Verma, Julie Panetta, Ebony Matotek, Michael C. Fahey, Michael Christie, Ingrid M. Winship, Alison H. Trainer, Paul A. James
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(7)
PURPOSE: This study aimed to correlate the indications and diagnostic yield of exome sequencing (ES) in adult patients across various clinical settings. The secondary aim was to examine the clinical utility of ES in adult patients. METHODS: Data on d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d12955478ad1583c9847e6c28b47c021
https://pubmed.ncbi.nlm.nih.gov/35416776
https://pubmed.ncbi.nlm.nih.gov/35416776
Autor:
Aamira J Huq, Bryony Thompson, Mark F Bennett, Adam Bournazos, Shobhana Bommireddipalli, Alexandra Gorelik, Joshua Schultz, Adrienne Sexton, Rebecca Purvis, Kirsty West, Megan Cotter, Giulia Valente, Andrew Hughes, Moeen Riaz, Maie Walsh, Sarah Farrand, Samantha M Loi, Trevor Kilpatrick, Amy Brodtmann, David Darby, Dhamidhu Eratne, Mark Walterfang, Martin Bruce Delatycki, Elsdon Storey, Michael Fahey, Sandra Cooper, Paul Lacaze, Colin L Masters, Dennis Velakoulis, Melanie Bahlo, Paul A James, Ingrid Winship
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry.
BackgroundIn the clinical setting, identification of the genetic cause in patients with early-onset dementia (EOD) is challenging due to multiple types of genetic tests required to arrive at a diagnosis. Whole-genome sequencing (WGS) has the potentia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9d083ad4e1b13b90b5135f6ea9a2a3f
https://pubmed.ncbi.nlm.nih.gov/35906014
https://pubmed.ncbi.nlm.nih.gov/35906014
Autor:
Adrienne Sexton, Maie Walsh, Elsdon Storey, Allan Wiseman, Kirsty West, Rebecca Purvis, J. Taylor, Michael C Fahey, Gulvir Gill, Paul A. James
Publikováno v:
Psychologyhealth. 36(11)
Genomic testing for early-onset dementia is becoming more accessible, along with predictive testing for at-risk relatives; however, complex counselling issues are important to address. The topic of suicide often has stigma associated, and thoughts or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a6930c5e07d5ca3f7b1f9475020d6bd
https://pubmed.ncbi.nlm.nih.gov/33232178
https://pubmed.ncbi.nlm.nih.gov/33232178