Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Chloe STUTTERD"'
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:
Carolyn Bursle, Eppie M. Yiu, Alison Yeung, Jeremy L. Freeman, Chloe Stutterd, Richard J. Leventer, Adeline Vanderver, Joy Yaplito‐Lee
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 11-16 (2020)
Abstract We report two unrelated patients with infantile onset leukoencephalopathy with vanishing white matter (VWM) and hyperinsulinaemic hypoglycaemia. To our knowledge, this association has not been described previously. Both patients had compound
Externí odkaz:
https://doaj.org/article/409271ae6f594e76bb062158b9a17b88
Publikováno v:
Fertility & Reproduction, Vol 04, Iss 03n04, Pp 161-161 (2022)
Background: In recent years there is an evident increase in the interest of transferring mosaic embryos. Our genetic counselling team have reported mosaic results to over 250 patients since the beginning of 2020, and there is an upward trend in patie
Externí odkaz:
https://doaj.org/article/85e10cd52deb49beabef32738704b6cb
Autor:
Meaghan Wall, David Francis, Ingrid Scheffer, Tiong Tan, Krithika Murali, Lyndon Gallacher, David Amor, Himanshu Goel, Lilian Downie, Chloe Stutterd, Emma Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289 blood and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7e2ff231cc0fa05211200d18443e101
https://doi.org/10.21203/rs.3.rs-2041176/v1
https://doi.org/10.21203/rs.3.rs-2041176/v1
Autor:
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
Publikováno v:
Human mutationREFERENCES. 43(12)
Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%-15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contrib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246cc95ca26153c3f65d149ecfbdc005
https://pubmed.ncbi.nlm.nih.gov/36030538
https://pubmed.ncbi.nlm.nih.gov/36030538
Autor:
Laura A. Adang, Samuel Groeschel, Chloe Grzyb, Florian S. Eichler, Jamie L. Fraser, Lisa Emrick, Keith Van Haren, Stephanie Keller, Michele Poe, John Bernat, Joshua L. Bonkowsky, Genevieve Bernard, Chloe Stutterd, Paul J. Orchard, Ashish Gupta, Merete Ljungberg, Sabine Grønborg, Francesca Fumagalli, Saskia Elgun, Christiane Kehrer, Justine Shults, Adeline Vanderver, Maria L. Escolar
Publikováno v:
Molecular Genetics and Metabolism. 138:106989
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6482e4be8e4dc343afee65c04a5fb13
https://doi.org/10.1016/j.ymgme.2022.106989
https://doi.org/10.1016/j.ymgme.2022.106989
Autor:
Natasha J, Brown, Zimeng, Ye, Chloe, Stutterd, Sureshni I, Jayasinghe, Amy, Schneider, Saul, Mullen, Simone A, Mandelstam, Michael S, Hildebrand
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features include ben
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::381ff5c47e1e7c00c0c2d1df7fd07609
https://pubmed.ncbi.nlm.nih.gov/34588213
https://pubmed.ncbi.nlm.nih.gov/34588213
Autor:
Chloe, Stutterd, Peter, Diakumis, Melanie, Bahlo, Miriam, Fanjul Fernandez, Richard J, Leventer, Martin, Delatycki, David, Amor, Chung W, Chow, Sarah, Stephenson, Miriam H, Meisler, Catriona, Mclean, Paul J, Lockhart
Publikováno v:
Annals of Clinical and Translational Neurology
Objective To characterize the clinical features and neuropathology associated with recessive VAC14 mutations. Methods Whole‐exome sequencing was used to identify the genetic etiology of a rapidly progressive neurological disease presenting in early
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a90a1385f8d386789c7866a82920919
https://pubmed.ncbi.nlm.nih.gov/29296614
https://pubmed.ncbi.nlm.nih.gov/29296614
Publikováno v:
Australian family physician. 46(4)
Advances in genomic technology and our understanding of Mendelian disease-causing genes have led to an increased use of genomic testing in clinical practice.The aim of this paper is to outline recent advances in genetic and genomic testing and the im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d8c9d5d1ad64d048333b79f2e11a7be
https://pubmed.ncbi.nlm.nih.gov/28376572
https://pubmed.ncbi.nlm.nih.gov/28376572