Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Aamira Huq"'
Autor:
Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health Adu
Externí odkaz:
https://doaj.org/article/3db51aa91e4d4222a42db0a751cb4260
Autor:
Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-8 (2020)
Abstract Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause of ADOA, a significant numbe
Externí odkaz:
https://doaj.org/article/10706826b7434e968105f1c716e20d3f
Autor:
Alexis Ceecee Britten-Jones, Sena A. Gocuk, Kai Lyn Goh, Aamira Huq, Thomas L. Edwards, Lauren N. Ayton
Publikováno v:
American Journal of Ophthalmology. 249:57-73
Accurate genotyping of individuals with inherited retinal diseases (IRD) is essential for patient management and identifying suitable candidates for gene therapies. This study evaluated the diagnostic yield of next generation sequencing (NGS) in IRDs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79ad7b4e00896230d16fa5f2c6e15269
https://doi.org/10.1016/j.ajo.2022.12.027
https://doi.org/10.1016/j.ajo.2022.12.027
Autor:
Amy Brodtmann, Aamira Huq
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Most genes cause disease when the function of at least one copy of the gene is disrupted (e.g., loss-of-function mutations) or compromised (e.g., missense mutations). Gain of function, resulting from increased dose of a gene product, is a less common
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c92d28951cbe2bfe3f82727629d7a81
http://europepmc.org/articles/PMC8428014
http://europepmc.org/articles/PMC8428014
Autor:
Aamira Huq, Paul A. James, John J McNeil, Lei Zhang, Danny Liew, Paul Lacaze, Mark Nelson, Xun Zhuang, David J. Amor, Moeen Riaz, Ingrid Winship, Jane Tiller, Yining Bao, Lara Petelin
Publikováno v:
Obstetrical & Gynecological Survey. 75:91-93
To consider the impact and cost-effectiveness of offering preventive population genomic screening to all young adults in a single-payer health-care system. We modeled screening of 2,688,192 individuals, all adults aged 18–25 years in Australia, for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e3f464563577e15bf1f017c45114454
https://doi.org/10.1097/01.ogx.0000654116.18244.8f
https://doi.org/10.1097/01.ogx.0000654116.18244.8f
Autor:
Peter D. Fransquet, Paul Lacaze, Colin L. Masters, Ingrid Winship, Joanne Ryan, Robert Sebra, Aamira Huq, Paul A. James, Simon M. Laws
Publikováno v:
Alzheimer's & Dementia. 15:1612-1623
Introduction Individuals with homozygosity for the apolipoprotein E (APOE) e4 allele are in the highest risk category for late-onset Alzheimer's disease (LOAD). However, some individuals in this category do not develop LOAD beyond the age of 75 years
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8adf245925c5c543f40f54ddae1c54c4
https://doi.org/10.1016/j.jalz.2019.05.011
https://doi.org/10.1016/j.jalz.2019.05.011
Autor:
Elsdon Storey, Paul Lacaze, Adrienne Sexton, Aamira Huq, Colin L. Masters, Dennis Velakoulis, Paul A. James, Ingrid Winship
Publikováno v:
International Journal of Geriatric Psychiatry.
Objective When a genetic cause is suspected in a person with dementia, it creates unique diagnostic and management challenges to the treating clinician. Many clinicians may be unaware of the practicalities surrounding genetic testing for their patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1391f38fcac40d048c585d98296f8101
https://doi.org/10.1002/gps.5535
https://doi.org/10.1002/gps.5535
Autor:
John McNeil, Robert Sebra, Ingrid Winship, Paul A. James, Alan E. Renton, Brian Fulton-Howard, Elsdon Storey, Moeen Riaz, Joanne Ryan, Anne Murray, Alison Goate, Simon M. Laws, Colin L. Masters, Raj C. Shah, Paul Lacaze, Aamira Huq
Publikováno v:
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)
Introduction Diversity in cognition among apolipoprotein E (APOE) ε4 homozygotes can range from early‐onset Alzheimer's disease (AD) to a lifetime with no symptoms. Methods We evaluated a phenotypic extreme polygenic risk score (PRS) for AD betwee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::462c84f372aa3a3a53805eef9ca98a8d
https://doi.org/10.1002/dad2.12226
https://doi.org/10.1002/dad2.12226
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:
Raj C. Shah, Anne M. Murray, Eric E. Schadt, Robert Sebra, John J McNeil, Jessica E. Lockery, Joanne Ryan, Moeen Riaz, Suzanne G Orchard, Robyn L. Woods, Alan E. Renton, Paul Lacaze, Elsdon Storey, Rory Wolfe, Alison Goate, Aamira Huq, Jane Tiller, Amy Brodtmann
ImportanceFew studies have measured the effect of genetic factors on dementia and cognitive decline in a population of healthy older individuals followed prospectively.ObjectiveTo examine the effect of Apolipoprotein E (APOE) genotypes and a polygeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c675210f40336a44b256138f99f3828d
https://doi.org/10.1101/2020.10.11.20210963
https://doi.org/10.1101/2020.10.11.20210963