Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Sara L, Bristow"'
Autor:
Brandie Heald, Heather Hampel, Sarah Nielsen, (Young), Sara L. Bristow, Edward Esplin, Robert Nussbaum, Daniel Pineda-Alvarez
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100077- (2023)
Externí odkaz:
https://doaj.org/article/bdf8815896ed4980af0e55b7e9bc92fc
Autor:
Carlos Andrés Ossa Gomez, Maria Isabel Achatz, Mabel Hurtado, María Carolina Sanabria-Salas, Yasser Sullcahuaman, Yanin Chávarri-Guerra, Julie Dutil, Sarah M. Nielsen, Edward D. Esplin, Scott T. Michalski, Sara L. Bristow, Kathryn E. Hatchell, Robert L. Nussbaum, Daniel E. Pineda-Alvarez, Patricia Ashton-Prolla
Publikováno v:
JCO Global Oncology, Vol , Iss 8 (2022)
PURPOSETo report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic individuals from the United Stat
Externí odkaz:
https://doaj.org/article/43db6d9fc94e42e6a1310cb54ca51222
Autor:
Tara J. Schmidlen, Sara L. Bristow, Kathryn E. Hatchell, Edward D. Esplin, Robert L. Nussbaum, Eden V. Haverfield
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Although multiple factors can influence the uptake of cascade genetic testing, the impact of proband indication has not been studied. We performed a retrospective, cross-sectional study comparing cascade genetic testing rates among relatives of proba
Externí odkaz:
https://doaj.org/article/992308c9b3e5498a99943e5a5cb5d01b
Publikováno v:
JCO Global Oncology, Vol , Iss 6, Pp 356-359 (2020)
Externí odkaz:
https://doaj.org/article/4ba778bba2db4589a373552e5a18af03
Autor:
B. Monica Bowen, Rebecca Truty, Swaroop Aradhya, Sara L. Bristow, Britt A. Johnson, Ana Morales, Christopher A. Tan, M. Jody Westbrook, Thomas L. Winder, Juan C. Chavez
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited progressive neuromuscular disorder with a narrow therapeutic window for optimal treatment. Although genetic testing provides a definitive molecular diagnosis that can f
Externí odkaz:
https://doaj.org/article/e565011b6be84a82b20cd5eb0a778177
Publikováno v:
BMC Cancer, Vol 18, Iss 1, Pp 1-4 (2018)
Abstract Background Astrocytomas are the most common malignant glial tumors. With improved prognosis, it is possible for patients to pursue pregnancy post-treatment. However, with potential gonadotoxicity of oncology treatments, fertility preservatio
Externí odkaz:
https://doaj.org/article/5c5a3096225e43f18cf9aeef452dc93e
Publikováno v:
Journal of Global Oncology, Vol 4, Pp 1-5 (2018)
Externí odkaz:
https://doaj.org/article/d9cfe1ffefc84d78aac94fdc5a8688bd
Autor:
Roman Shraga, Sarah Yarnall, Sonya Elango, Arun Manoharan, Sally Ann Rodriguez, Sara L. Bristow, Neha Kumar, Mohammad Niknazar, David Hoffman, Shahin Ghadir, Rita Vassena, Serena H. Chen, Avner Hershlag, Jamie Grifo, Oscar Puig
Publikováno v:
BMC Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Abstract Background Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We inve
Externí odkaz:
https://doaj.org/article/3b3d6e6b49e743de86941d8df101717f
Autor:
Megan H. Cleveland, Shazia Mahamdallie, Brian H. Shirts, Stephen F. Kingsmore, Nazneen Rahman, Eric W. Klee, Farol L. Tomson, Swaroop Aradhya, Kathryn E. Hatchell, Wasanthi DeSilva, Sara L. Bristow, Tina Hambuch, Sheila Seal, Michael Kennemer, Matthew J. Ferber, Shimul Chowdhury, Peter M. Vallone, Andrew Fellowes, Russell Garlick, Justin M. Zook, Robert L. Nussbaum, Yan Ding, Rebecca Truty, Marc L. Salit, Catherine Huang, Stephen E. Lincoln
Publikováno v:
Genetics in Medicine
PurposeTo evaluate the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic tests. Such variants include large indels, small CNVs, complex alterations, and variants in lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba13623212faa2e5f9782daac0df4e0
https://doi.org/10.1038/s41436-021-01187-w
https://doi.org/10.1038/s41436-021-01187-w
Autor:
Edward D. Esplin, Sarah M. Nielsen, Sara L. Bristow, Judy E. Garber, Heather Hampel, Huma Q. Rana, N. Jewel Samadder, Neal D. Shore, Robert L. Nussbaum
Publikováno v:
JCO Precision Oncology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8209a6acb649e0b4991d3d04544cf0fe
https://doi.org/10.1200/po.21.00516
https://doi.org/10.1200/po.21.00516