Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Gayle Patel"'
Autor:
Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan M. Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C. Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam
Publikováno v:
npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patient
Externí odkaz:
https://doaj.org/article/50f2e0c212b24359a87e5f0fd59980ac
Autor:
David P. Ondrula, Kevin S. Hughes, David M. Euhus, John F. Sandbach, S. Dwight Lyons, Yuxi Liu, Alan Semine, Melford Allan C. Lazarte, Linda Ann Smith, Kanhua Yin, Linsey Gold, Gayle Patel, Danielle Braun, Basanta Lamichhane, Eric J. Brown, Pat Whitworth, Richard H. Kanak, Gia Compagnoni, Giovanni Parmigiani, Barry Rosen, Colleen App
Publikováno v:
Annals of Surgical Oncology. 27:2212-2220
The classification of germline variants may differ between labs and change over time. We apply a variant harmonization tool, Ask2Me VarHarmonizer, to map variants to ClinVar and identify discordant variant classifications in a large multipractice var
Autor:
Gayle Patel, Morgan M Depas, Lily Hoang, Rob Pilarski, Brigette Tippin Davis, Elizabeth Hoodfar, Cara S. Dresbold, Olivia L. Tan, Meagan Farmer, Danielle Menashe, Samantha Stachowiak, Deborah Wham, Khateriaa Pyrtel, Sandra B. Jenkinson, Tiffani Demarco, Sara Pirzadeh-Miller, Elizabeth C. Chao, Danielle McKenna, Catherine Koptiuch, Jessica Profato, Rebekah C. Krukenberg, Jennifer L. Geurts, John G. Lee, Shraddha Gaonkar, Jen Moore, Nichole A. Morman, Danielle Dondanville, Deepika Nathan, Rachid Karam, Meredith Seidel, Holly LaDuca, Amal Yussuf, Kara J. Milliron, Carolyn Horton, Jill S. Dolinsky, Diane Samad, Cassie Garcia
Publikováno v:
Cancer Research. 80:P6-08
BACKGROUND: Germline genetic testing is routinely incorporated into clinical care for breast cancer patients to inform management decisions and reduce risk for developing subsequent cancers. While the diagnostic yield of cancer genetic testing has in
Autor:
Meagan Farmer, Brandon Smith, Kara N. Maxwell, Brigette Tippin-Davis, Julia Burdette, Danielle McKenna, Ashley A. Cass, Sinead Charpentier, Sitao Wu, Emily Dalton, Melissa Parra, Susanne Fox, Aaron Elliott, Holly LaDuca, Cathryn Koptiuch, Susan M. Domchek, Elizabeth Hoodfar, Robert Pilarski, Dong Xu, Khateriaa Pyrtel, Kara J. Milliron, Michele Fennessy, Gayle Patel, Lily Hoang, Morgan M Depas, Tina Pesaran, Rachid Karam, Meredith Seidel, Ann Bunnell, Huy Gia Vuong, Deborah Wham, Bing Li, Ragene Rivera, Jennie Vagher, Nichole A. Morman, Aarani Arulmoli, Sara Pirzadeh-Miller, Hsiao-Mei Lu, Jessica Profato, Joy Rae-Radecki Crandall, Elizabeth C. Chao, Ruth Baxter, Shraddha Gaonkar, Ginger Haynes, Amanda Ganzak, Deepika Nathan, Jennifer L. Geurts, Blair R. Conner, Tyler Landrith, Rebekah Krukenberg, John J. Lee, Christopher Heinlen, Bhuvan Molparia
Publikováno v:
npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
NPJ Precision Oncology
NPJ Precision Oncology
Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patients with su
Autor:
Vanessa Torres, Camille Fisher, Ann Bunnell, Dhatri Kodali, Lalan S. Wilfong, Kate Principe, Katharine Lord, Gayle Patel, Trisha Nichols, Steven Carlisle
Publikováno v:
Journal of Clinical Oncology. 39:1523-1523
1523 Background: The primary purpose of tumor mutation profiling (TMP) is to molecularly characterize tumors to identify targeted treatments and improve outcomes, but it may also uncover germline mutations with implications for patients and families.
Autor:
James Waldron, Morris D. Groves, Craig Kemper, Gayle Patel, Christina Boman, Jeffrey S. Weinberg, Mark G. Burnett, Rachel Smith, Srivani Thatikonda, Katharine Lord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65e43846f3197c9f76a74146a8666482
https://europepmc.org/articles/PMC5692116/
https://europepmc.org/articles/PMC5692116/
Autor:
Trisha Nichols, Lalan S. Wilfong, Gayle Patel, John F. Sandbach, Ann Bunnell, Ryan Sperl, Monica White, Sara Toth, Kate Principe, Christine L. Long, Megan Jones
Publikováno v:
Journal of Clinical Oncology. 37:123-123
123 Background: Identifying individuals with inherited cancer susceptibility is critical to cancer treatment and prevention in patients and families. While the identification and management of inherited susceptibility to cancer is the standard of car
Autor:
Amanda Gammon, Mary B. Daly, Lavania Sharma, John F. Sandbach, Gayle Patel, Jennifer Saam, Saundra S. Buys, John Kidd, Johnathan M. Lancaster, Krystal Brown
Publikováno v:
Cancer. 123(10)
BACKGROUND As panel testing becomes more common in clinical practice, it is important to understand the prevalence and trends associated with the pathogenic variants (PVs) identified. This is especially true for genetically heterogeneous cancers, suc
Autor:
Linda Manwaring, Pawel Stankiewicz, Weihong Jin, Jeffrey R Hughes, Ankita Patel, Ping Fang, Ayman W. El-Hattab, Dorothy K. Grange, James B. Gibson, Gayle Patel, Sau Wai Cheung
Publikováno v:
Journal of Medical Genetics. 48:840-850
Background X linked intellectual disability (XLID) is common, with an estimated prevalence of 1/1000. The expanded use of array comparative genomic hybridisation (CGH) has led to the identification of several XLID-associated copy-number variants. Met
Publikováno v:
Journal of Clinical Oncology. 36:1586-1586
1586Background: Genomic profiling is performed on primary brain (CNS) tumors to identify somatic mutations. Several syndromes, (e.g. Neurofibromatosis) are well known causes of CNS neoplasms but da...