Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Alison D Archibald"'
Autor:
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F. Vears
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-9 (2024)
Abstract Background Implementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions detected. We sought to explore public preferences and perspectives on which conditions to inclu
Externí odkaz:
https://doaj.org/article/b3d5879a00c745cba889677a3608c841
Autor:
Zoe Fehlberg, Stephanie Best, Janet C. Long, Tahlia Theodorou, Catherine Pope, Peter Hibbert, Sharon Williams, Lucinda Freeman, Sarah Righetti, Alison D. Archibald, Jeffrey Braithwaite
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
Abstract An understanding of factors influencing implementation is essential to realise the benefits of population-based reproductive genetic carrier screening programs. The aim of this study was to synthesise data collected during the Australian Rep
Externí odkaz:
https://doaj.org/article/af76fb895be04558b79d444df466450b
Autor:
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F. Vears
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 6 (2024)
Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed
Externí odkaz:
https://doaj.org/article/95edab3abc984cfc9564ef9b524d3b50
Autor:
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman
Publikováno v:
Cells, Vol 12, Iss 18, p 2330 (2023)
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5’ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms lead
Externí odkaz:
https://doaj.org/article/a0b6f75a833d4184b35d72147f86dffc
Autor:
Alison D. Archibald, Belinda J. McClaren, Jade Caruana, Erin Tutty, Emily A. King, Jane L. Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H. Bennetts, Corrina C. Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D. Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin J. Downes, Mathew Wallis, Monica M. Ferrie, Nicholas Pachter, Paul A. Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P. Walker, Tiffany F. Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki, The Mackenzie’s Mission Study Team
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 11, p 1781 (2022)
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be of
Externí odkaz:
https://doaj.org/article/db45c3e4abc84d29b648a7552a4461f9
Publikováno v:
Bioethics. 37:359-366
Reproductive genetic carrier screening provides information about people's chance of having children with certain genetic conditions. Severity of genetic conditions is an important criterion for their inclusion in carrier screening programmes. Howeve
Autor:
Katrina L. Scarff, Nicola Flowers, Clare J. Love, Alison D. Archibald, Clare E. Hunt, Olivia Giouzeppos, Justine Elliott, Martin B. Delatycki, Mark D. Pertile
Publikováno v:
Prenatal Diagnosis. 43:213-225
To evaluate the performance of cell-free DNA (cfDNA) screening for common fetal aneuploidies, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cfDNA screening.A single-centre prenatal cfDNA screening
Autor:
Miranda F. Lewit‐Mendes, Hazel Robson, Joanne Kelley, Justine Elliott, Erica Brown, Melody Menezes, Alison D. Archibald
Publikováno v:
Journal of Genetic Counseling. 32:213-223
Many non-invasive prenatal testing (NIPT) platforms screen for sex chromosome aneuploidy (SCA) and SCA analysis is generally included in Australia where NIPT is available as a self-funded test. Little is known about the experience of receiving an NIP
Autor:
Sarah Righetti, Lisa Dive, Alison D. Archibald, Lucinda Freeman, Belinda McClaren, Anaita Kanga-Parabia, Martin B. Delatycki, Nigel G. Laing, Edwin P. Kirk, Ainsley J. Newson, Kristine Barlow-Stewart, Stephanie Best, Kirsten Boggs, Camron Ebzery, Samantha Edwards, Zoe Fehlberg, Lara Fitzgerald, Jane Halliday, Katrina Harrison, Jillian Kennedy, Janet Long, John Massie, Erin Tutty, Richard Allcock, Jade Caruana, Rachael Casella, Mark Davis, Tristan Hardy, Sarah Jelenich, Sebastian Lunke, Julie McGaughran, Gina Ravenscroft
Publikováno v:
Genetics in Medicine. 24:1158-1161
Publikováno v:
Australian Journal of Primary Health.