Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Beverly Searle"'
Autor:
Melissa Hill, Sian Ellard, Naomi Fulop, Jane Fisher, Mark Kroese, Marian Knight, Kerry Leeson-Beevers, Jean Ledger, Dominic McMullan, Alec McEwan, Stephen Morris, Rhiannon Mellis, Dagmar Tapon, Michael Parker, Laura Blackburn, Holly Walton, Emma Baple, Caroline Lafarge, Asya Choudry, Emma Smith, Michelle Peter, Hannah McInnes-Dean, Lauren Roberts, Rema Ramakrishnan, Sarah L. Wynn, Beverly Searle, Lyn S. Chitty, Wing Han Wu
Publikováno v:
NIHR Open Research, Vol 2 (2022)
Background: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the NHS Genomic Medicine Service (GMS). The GMS is based around seven regional Genomic Laboratory Hubs (GLHs). Pr
Externí odkaz:
https://doaj.org/article/af33ebd7bc914d6686b2060b3f3fc0ec
Autor:
Diana Baralle, Susan Walker, Ramya Srinivasan, Sarah Davies, Shelagh Joss, Jonathan Berg, Miranda Splitt, Usha Kini, Pradeep Vasudevan, John Dean, William Newman, Yanick Crow, Beverly Searle, Julian Barwell, Lyn Chitty, Peter Holmans, Sarah Law, Virginia Clowes, Rachel Harrison, Muriel Holder, Sahar Mansour, Spiros Denaxas, Ellie Kerry, Frances Flinter, Zheng Ye, Julia Rankin, Oliver Quarrell, Nicola Lewis, Anne Lampe, Astrid Weber, David Skuse, Kate Baker, Annie Procter, Jeremy Hall, Alison Kraus, Neil Walker, Jeanne Wolstencroft, Laura Hull, Lauren Warner, Tooba Nadeem Akhtar, William Mandy, Eleanor Dewhurst, Amy Lafont, F Lucy Raymond, Terry Shirley, Hayley Tilley, Husne Timur, Catherine Titterton, Sarah Wallwork, Francesca Wicks, Marie Erwood, Sophie Andrews, Philippa Birch, Samantha Bowen, Karen Bradley, Aimee Challenger, Samuel Chawner, Andrew Cuthbert, Sinead Morrison, Hayley Moss, Michael Owen, Sinead Ray, Matthew Sopp, Molly Tong, Marianne van den Bree, Nadia Coscini, Hayley Denyer, Nasrtullah Fatih, Manoj Juj, Anna Lucock, Frida Printzlau, Alice Watkins, Anna Pelling, Lisa Robertson, Denise Williams Alan, Donaldson Lucy, Fleur van Dijk
Publikováno v:
BMJ Open, Vol 11, Iss 9 (2021)
Objectives This study aimed to explore the experiences of parents caring for children with intellectual and developmental disabilities (IDD) during the UK national lockdown in spring 2020, resulting from the COVID-19 pandemic.Design Participants were
Externí odkaz:
https://doaj.org/article/6e3c9d93947f4c879e95fa8e598ed6e2
Animation or leaflet: Does it make a difference when educating young people about genome sequencing?
Autor:
Saskia C. Sanderson, Melissa Hill, Ian Garner, Jennifer Hammond, Celine Lewis, Amy Hunter, Christine Patch, Beverly Searle
Publikováno v:
Patient Education and Counseling. 104:2522-2530
Objective To compare the effectiveness of an animation against two leaflets with and without images, in educating young people about genome sequencing (GS). Methods An experimental survey with three assessment points (pre- intervention [T1], post –
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e28822d5208be54b31800463d79f5906
https://doi.org/10.1016/j.pec.2021.02.048
https://doi.org/10.1016/j.pec.2021.02.048
Autor:
Lyn S. Chitty, Amy Hunter, Beverly Searle, Melissa Hill, Christine Patch, Celine Lewis, Saskia C. Sanderson, Jennifer Hammond
Publikováno v:
European Journal of Human Genetics
Children and young people with rare and inherited diseases will be significant beneficiaries of genome sequencing. However, most educational resources are developed for adults. To address this gap in informational resources, we have co-designed, deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46b7fc3b9b056d3570e1d6691fe0bbda
http://europepmc.org/articles/PMC7316978
http://europepmc.org/articles/PMC7316978
Autor:
Michelle Peter, Jennifer Hammond, Saskia C. Sanderson, Jana Gurasashvili, Amy Hunter, Beverly Searle, Christine Patch, Lyn S. Chitty, Melissa Hill, Celine Lewis
Publikováno v:
European journal of human genetics : EJHG. 30(5)
In this mixed methods study, a survey and in-depth interviews were used to explore whether decision regret and the psychological impact of receiving genome sequencing (GS) results differed between parents and patients, and between those who received
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1af67086ed56fea1b55117015da6d2cd
https://pubmed.ncbi.nlm.nih.gov/35264738
https://pubmed.ncbi.nlm.nih.gov/35264738
Autor:
Daniel Gale, Amy Hunter, Meriel McEntagart, Huw R. Morris, Saskia C. Sanderson, Celine Lewis, Christine Patch, Lyn S. Chitty, Michelle Peter, Beverly Searle, Melissa Hill, Mariya Moosajee
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(1)
The purpose of this study was to assess decisions, attitudes, and understanding of participants (patients, parents, relatives) having genome sequencing for rare disease diagnosis.This study involved a cross-sectional observational survey with partici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d02fe1effa0c16965a2a250662e9fe1
https://pubmed.ncbi.nlm.nih.gov/34906473
https://pubmed.ncbi.nlm.nih.gov/34906473
Autor:
Amir Jahan Khan, Maj Hultén, Sarah Wynn, Ala Szczepura, Deborah Biggerstaff, Josh Elliott, Beverly Searle, Tom Palmer
Publikováno v:
Clinical Genetics. 93:972-981
The latest United Kingdom (UK) strategy for rare diseases emphasises the need to empower affected populations to improve diagnosis, intervention, and coordination of care. Families who have a child with a rare chromosome disorder (RCD) are a challeng
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886d5fdd864eaa0c5ce2da533f9170fb
https://doi.org/10.1111/cge.13207
https://doi.org/10.1111/cge.13207
Autor:
Erik Jones, Janine Lewis, Peter N. Robinson, Hugh Dawkins, Catherine A. Brownstein, Ingrid A. Holm, Jessica X. Chong, Melissa A. Haendel, Beverly Searle, Cornelius F. Boerkoel, Julie A. McMurry, Tudor Groza, Sharon F. Terry, Kayli Rageth, Michelle Snyder, Christopher J. Mungall, Alastair Kent, Leigh C. Carmody, Chip Chambers, Michael J. Bamshad, Maria G. Della Rocca, Gareth Baynam, Matthew Might, Mark Engelstad, David H. Adams, Erin D. Foster, Allison Heath, Pam Gavin, Kent Shefchek, Ana Rath, Nicole Vasilevsky, Sebastian Köhler, Adam C. Resnick
Publikováno v:
Nature Genetics. 50:474-476
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::822e46742fcf8d620deb3e596da4d9d3
https://doi.org/10.1038/s41588-018-0096-x
https://doi.org/10.1038/s41588-018-0096-x
Autor:
Beverly Searle
Publikováno v:
Research and Practice in Intellectual and Developmental Disabilities. 5:17-19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5e28cb7f3ff8ede2c682798a0af3867
https://doi.org/10.1080/23297018.2018.1455067
https://doi.org/10.1080/23297018.2018.1455067
Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study
Autor:
Saskia C. Sanderson, Beverly Searle, Melissa Hill, Celine Lewis, Lyn S. Chitty, Chris Patch, Amy Hunter
Publikováno v:
European Journal of Human Genetics
The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and inherited disease diagnosis; all participants receive their main findings and contribute their d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37a2c17e9d36c778301fd7b9f9ae1f50
https://pubmed.ncbi.nlm.nih.gov/32001839
https://pubmed.ncbi.nlm.nih.gov/32001839