Zobrazeno 1 - 10
of 210
pro vyhledávání: '"Margaret Gibson"'
Autor:
Emily Farrow, Carol Saunders, Margaret Gibson, Adam Walter, Ana S.A. Cohen, Joseph Alaimo, Tricia Zion, Charlie Bi, YuXin Zhou, Guil Bourque, Adam Johnson, Byunggil Yoo, Carl Schwendinger-Schreck, Jeff Johnston, Warren Cheung, Tomi Pastinen, Isabelle Thiffault
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101471- (2024)
Externí odkaz:
https://doaj.org/article/fb01e5ac59e14bd59b7d8cbd61cb1bf3
Autor:
Warren A. Cheung, Adam F. Johnson, William J. Rowell, Emily Farrow, Richard Hall, Ana S. A. Cohen, John C. Means, Tricia N. Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey J. Johnston, Margaret Gibson, Gilad Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, Tomi Pastinen
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Long-read HiFi genome sequencing allows for accurate detection and direct phasing of single nucleotide variants, indels, and structural variants. Recent algorithmic development enables simultaneous detection of CpG methylation for analysis o
Externí odkaz:
https://doaj.org/article/10ee8f5178214fda98a06dc46647c12e
Autor:
Megan H. Tucker, Wei Yu, Heather Menden, Sheng Xia, Carl F. Schreck, Margaret Gibson, Daniel Louiselle, Tomi Pastinen, Nikita Raje, Venkatesh Sampath
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 11 (2023)
Neonatal herpes simplex virus (HSV) infection is a devastating disease with substantial morbidity and mortality. The genetic basis of susceptibility to HSV in neonates remains undefined. We evaluated a male infant with neonatal skin/eye/mouth (SEM) H
Externí odkaz:
https://doaj.org/article/32b148b771ed4cf486ea79c96811dfcd
Autor:
Emily Farrow, Isabelle Thiffault, Ana Cohen, Tricia Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren Cheung, Jeffrey Johnston, Tomi Pastinen
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100505- (2023)
Externí odkaz:
https://doaj.org/article/284018338729483dad18fd58f3d3eeb1
Autor:
Jennifer Crow, Glenson Samuel, Emily Farrow, Margaret Gibson, Jefferey Johnston, Erin Guest, Neil Miller, Dong Pei, Devin Koestler, Harsh Pathak, Xiaobo Liang, Cooper Mangels, Andrew K Godwin
Publikováno v:
Biomarker Insights, Vol 17 (2022)
Objective: Ewing Sarcoma Family of Tumors (ESFT) are a highly aggressive pediatric bone and soft tissue malignancy with poor outcomes in the refractory and recurrent setting. Over 90% of Ewing Sarcoma (ES) tumors are driven by the pathognomonic EWS-E
Externí odkaz:
https://doaj.org/article/39a4540fb45c44d9b9dd3f9070920ef8
Autor:
Li Qin Zhang, Dilyara Cheranova, Margaret Gibson, Shinghua Ding, Daniel P Heruth, Deyu Fang, Shui Qing Ye
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31229 (2012)
The dysregulation of vascular endothelial cells by thrombin has been implicated in the development of a number of pathologic disorders such as inflammatory conditions, cancer, diabetes, coronary heart disease. However, transcriptional regulation of v
Externí odkaz:
https://doaj.org/article/9f179679f1b84c58bdf867de7e60125b
Autor:
Margaret Gibson
The 1950s and 1960s were years of shifting values and social changes that did not sit well with many citizens of Richmond, Virginia, and in particular with one conservative family, a staunchly southern mother and father and their two daughters. A pow
Publikováno v:
Thesis Eleven. 172:3-15
Refereed/Peer-reviewed This introduction positions the special issue by highlighting the inherent relationality of place as well as how place is not just an object of analysis but something that shapes thinking, writing and experiences of the world.
Autor:
Margaret Gibson, Kelly Burstow
Publikováno v:
Thesis Eleven. 172:66-92
This paper examines the emergence and trajectory of a vernacular femicide memorial tree at Mount Gravatt (Meanjin/Brisbane) which is juxtaposed with established and regulated official commemorative placemaking practices in this social geography. The
Autor:
Ana S.A. Cohen, Emily G. Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan M. Amudhavalli, John T. Anderson, Lalit Bansal, Lauren Bartik, Primo Baybayan, Bradley Belden, Courtney D. Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion Buske, Shreyasee Chakraborty, Warren A. Cheung, Keith A. Coffman, Ashley M. Cooper, Laura A. Cross, Tom Curran, Thuy Tien T. Dang, Mary M. Elfrink, Kendra L. Engleman, Erin D. Fecske, Cynthia Fieser, Keely Fitzgerald, Emily A. Fleming, Randi N. Gadea, Jennifer L. Gannon, Rose N. Gelineau-Morel, Margaret Gibson, Jeffrey Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce A. Heese, Wendy Hein, Suzanne M. Herd, Susan S. Hughes, Mohammed Ilyas, Jill Jacobson, Janda L. Jenkins, Shao Jiang, Jeffrey J. Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussmann, Christine Lambert, Caitlin Lawson, Jean-Baptiste Le Pichon, James Steven Leeder, Vicki C. Little, Daniel A. Louiselle, Michael Lypka, Brittany D. McDonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna M. Pacicca, Kailash Pawar, Nyshele L. Posey, Nigel Price, Laura M.B. Puckett, Julio F. Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol J. Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah Soden, Meghan E. Strenk, Bonnie R. Sullivan, Brooke R. Sweeney, Jade B. Tam-Williams, Adam M. Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia N. Zion, Isabelle Thiffault, Tomi Pastinen
Publikováno v:
Genetics in Medicine. 24:1336-1348
This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.Extensive analyses of 960 families with suspected genetic disorders included short-read exome