Zobrazeno 1 - 10 of 51 pro vyhledávání: '"Rose B McGee"'
1
Akademický článek
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.
Autor: Sabine Topka, Joseph Vijai, Michael F Walsh, Lauren Jacobs, Ann Maria, Danylo Villano, Pragna Gaddam, Gang Wu, Rose B McGee, Emily Quinn, Hiroto Inaba, Christine Hartford, Ching-Hon Pui, Alberto Pappo, Michael Edmonson, Michael Y Zhang, Polina Stepensky, Peter Steinherz, Kasmintan Schrader, Anne Lincoln, James Bussel, Steve M Lipkin, Yehuda Goldgur, Mira Harit, Zsofia K Stadler, Charles Mullighan, Michael Weintraub, Akiko Shimamura, Jinghui Zhang, James R Downing, Kim E Nichols, Kenneth Offit
Publikováno v: PLoS Genetics, Vol 11, Iss 6, p e1005262 (2015)
Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in
Externí odkaz: https://doaj.org/article/857b67bb97a141dd80ae77fd0dd250d4
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2
Akademický článek
Creating a cancer genomics curriculum for pediatric hematology‐oncology fellows: A national needs assessment
Autor: Alise K. Murray, Rose B. McGee, Roya M. Mostafavi, Xiaoqing Wang, Zhaohua Lu, Jessica M. Valdez, Michael A. Terao, Kim E. Nichols
Publikováno v: Cancer Medicine, Vol 10, Iss 6, Pp 2026-2034 (2021)
Abstract Background With the advent of next generation sequencing, tumor and germline genomic testing are increasingly being used in the management of pediatric cancer patients. Despite this increase in testing, many pediatric hematology–oncology (
Externí odkaz: https://doaj.org/article/c7243c0d9b7f40c298a7758db67cead5
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3
Akademický článek
Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16‐year‐old female
Autor: James D. Tutor, Stephen F. Miller, Hiba Al Zubeidi, Anthony Sheyn, Jie Zhang, Regan Williams, Rose B. McGee
Publikováno v: Clinical Case Reports, Vol 8, Iss 12, Pp 2373-2376 (2020)
Abstract Pulmonary cysts and neoplasms, especially congenital or occurring at a young age, should be thoroughly investigated. Evaluation for DICER1 mutations should be performed if there is a family history of this syndrome, the lung cyst/neoplasm is
Externí odkaz: https://doaj.org/article/3781273266c04c89801c7e7f5cd17bb9
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4
Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management
Autor: Rose B. McGee, Ninad Oak, Lynn Harrison, Ke Xu, Regina Nuccio, Alise K. Blake, Roya Mostafavi, Sara Lewis, Leslie M. Taylor, Manish Kubal, Annastasia Ouma, Stacy J. Hines-Dowell, Cheng Cheng, Larissa V. Furtado, Kim E. Nichols
Publikováno v: Clinical Cancer Research. 29:1243-1251
Purpose: Clinical genomic sequencing of pediatric tumors is increasingly uncovering pathogenic variants in adult-onset cancer predisposition genes (aoCPG). Nevertheless, it remains poorly understood how often aoCPG variants are of germline origin and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c8d4af0350d71a04282bfb899608d2d
https://doi.org/10.1158/1078-0432.ccr-22-2482
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6
Data from Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing
Autor: Kim E. Nichols, Jinghui Zhang, James R. Downing, David W. Ellison, Ching-Hon Pui, Liza-Marie Johnson, Giles Robinson, Alberto S. Pappo, Stacy J. Hines-Dowell, Jessica M. Valdez, Leslie M. Taylor, Elsie L. Gerhardt, Roya Mostafavi, Regina Nuccio, Emily A. Quinn, Rose B. McGee, Charles G. Mullighan, Zhaohui Gu, Jian Wang, Alexander M. Gout, Jay Knight, Victor Pastor, Jamie L. Maciaszek, Manish Kubal, Delaram Rahbarinia, Mark R. Wilkinson, Aman Patel, Jared Becksfort, Eric Davis, Manjusha Pande, Ti-Cheng Chang, Xin Zhou, Samuel W. Brady, Yu Liu, Zhaojie Zhang, Yanling Liu, Antonina Silkov, Annastasia Ouma, Michael R. Clay, Lu Wang, Lynn W. Harrison, Jiali Gu, Jeffery M. Klco, Brent A. Orr, Armita Bahrami, Andrew Thrasher, Michael N. Edmonson, Scott G. Foy, Kayla V. Hamilton, Dale J. Hedges, Sheila Shurtleff, Michael Rusch, David A. Wheeler, Elizabeth M. Azzato, Chimene A. Kesserwan, Joy Nakitandwe, Scott Newman
Genomic studies of pediatric cancer have primarily focused on specific tumor types or high-risk disease. Here, we used a three-platform sequencing approach, including whole-genome sequencing (WGS), whole-exome sequencing (WES), and RNA sequencing (RN
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0766fc82b48ecf1bf79e0f14636f6d6
https://doi.org/10.1158/2159-8290.c.6549437
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