O24: Unveiling the power of HiFi genome sequencing: One test to rule them all?

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

IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection

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

MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation

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

Memorials to murdered women: A study of the dynamics of claiming, marking and making place in publics of commemoration

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bb5827e95cd04d08ee5205d497ad03e0
https://doi.org/10.1177/07255136221133179

Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fae080f2e98a691a62cb07ca295bd7e
https://doi.org/10.1016/j.gim.2022.02.007