Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Natasha A. Brown"'
Autor:
Mary A. Garza, PhD, Sandra Crouse Quinn, PhD, Yan Li, PhD, Luciana Assini-Meytin, MS, Erica T. Casper, MA, Craig S. Fryer, DrPH, James Butler, III, DrPH, Natasha A. Brown, PhD, Kevin H. Kim, PhD, Stephen B. Thomas, PhD
Publikováno v:
Contemporary Clinical Trials Communications, Vol 7, Iss , Pp 57-63 (2017)
Inroduction: The purpose of this study was to explore factors associated with willingness of African Americans and Latinos to participate in biomedical and public health research and to delineate factors that influence the decision to become a human
Externí odkaz:
https://doaj.org/article/6d1285a5334148a09aa321d8f2b22cba
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:
Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G. Bannister, Natasha J. Brown, Maureen S. Evans, Sharmila Kiss, Thomas H. Rozen, Joy Yaplito‐Lee
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 239-248 (2024)
Abstract Familial chylomicronemia syndrome (FCS) is a rare disorder of triglyceride (TG) metabolism caused by loss of function variants in one of five known canonical genes involved in chylomicron lipolysis and clearance—LPL, APOC2, APOA5, LMF1, an
Externí odkaz:
https://doaj.org/article/e0ae9d872ca24a4b99aab791f4a1c2dc
Autor:
Lauren S. Akesson, Rocio Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G. Compton, David R. Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou
Publikováno v:
JIMD Reports, Vol 63, Iss 3, Pp 240-249 (2022)
Abstract Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist i
Externí odkaz:
https://doaj.org/article/b096ed78eb604ff08a47d2a4cab9b501
Publikováno v:
Journal of Primary Care & Community Health, Vol 13 (2022)
The COVID-19 epidemic has negatively impacted the Black community in the United States. Despite current disease mitigation efforts, work is still needed to ensure that Black individuals living in the United States understand their risks regarding COV
Externí odkaz:
https://doaj.org/article/3eae9a2a08a240b1aa1821389f934394
Autor:
Amy Leigh Dyess, Jordyn Shelby Brown, Natasha Dianne Brown, Katherine Merrill Flautt, Lisa Jayroe Barnes
Publikováno v:
Journal of Educational Evaluation for Health Professions, Vol 16 (2019)
Purpose Interprofessional education (IPE) is a concept that allows students from different health professions to learn with and from each other as they gain knowledge about their chosen professions and the professions of their colleagues. The purpose
Externí odkaz:
https://doaj.org/article/db3f3ea2919f4928bc0ee697393a3a7c
Autor:
Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernández, Natasha J. Brown, Kate Pope, Cherie C. Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J. Lockhart
Publikováno v:
Stem Cell Research, Vol 39, Iss , Pp - (2019)
We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a single family, including unaffected and affected individuals clinically diagnosed with Autism Sp
Externí odkaz:
https://doaj.org/article/7d85cf9b4a764a35955099983a2154e6
Autor:
Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D.N. Astuti, Tahsin Stefan Barakat, E. Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, Philippe M. Campeau, Goran Čuturilo, Christian Gilissen, Tobias B. Haack, Irina Hüning, Ralf A. Husain, Benjamin Kamien, Sze Chern Lim, Luca Lovrecic, Janine Magg, Ales Maver, Valancy Miranda, Danielle C. Monteil, Charlotte W. Ockeloen, Lynn S. Pais, Vasilica Plaiasu, Laura Raiti, Christopher Richmond, Angelika Rieß, Eva M.C. Schwaibold, Marleen E.H. Simon, Stephanie Spranger, Tiong Yang Tan, Michelle L. Thompson, Bert B.A. de Vries, Ella J. Wilkins, Marjolein H. Willemsen, Clyde Francks, Lisenka E.L.M. Vissers, Simon E. Fisher, Tjitske Kleefstra
Publikováno v:
Genetics in Medicine, 24(6), 1283-1296. Lippincott Williams & Wilkins
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine
PURPOSE: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c634fbbfbfe9fc61dcffebf9b78acf3
https://doi.org/10.1016/j.gim.2022.02.014
https://doi.org/10.1016/j.gim.2022.02.014
Autor:
Jamie A. Lopez, Tahereh Noori, Adrian Minson, Lu Li Jovanoska, Kevin Thia, Michael S. Hildebrand, Hedieh Akhlaghi, Phillip K. Darcy, Michael H. Kershaw, Natasha J. Brown, Andrew Grigg, Joseph A. Trapani, Ilia Voskoboinik
Publikováno v:
Frontiers in Immunology, Vol 9 (2018)
The ability of cytotoxic lymphocytes (CL) to eliminate virus-infected or cancerous target cells through the granule exocytosis death pathway is critical to immune homeostasis. Congenital loss of CL function due to bi-allelic mutations in PRF1, UNC13D
Externí odkaz:
https://doaj.org/article/7b7c9fbb0a424695a61c0ec7c5f47808
Autor:
Simon Sadedin, Alison Yeung, Natasha J Brown, David S. Francis, Katrina M. Bell, David R. Thorburn, Lyndon Gallacher, Justine Elliott, Michelle G. de Silva, Alysia Lovgren, Lilian Downie, Anne H. O’Donnell-Luria, Chloe A Stutterd, Sze Chern Lim, George McGillivray, Martin B. Delatycki, Zornitza Stark, Thomas Cloney, John Christodoulou, Tiong Yang Tan, Susan M. White, Lynn Pais, Cas Simons, Daniel G. MacArthur, Ralph Oertel, Alison G. Compton, Guy Helman, Natalie B Tan
Publikováno v:
J Med Genet
BackgroundClinical exome sequencing typically achieves diagnostic yields of 30%–57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals.AimWe share
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca73f191cc970a16feab466941b8d511
https://doi.org/10.1136/jmedgenet-2021-107902
https://doi.org/10.1136/jmedgenet-2021-107902