检索结果 - Brigette Tippin Davis
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1
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care 由 Stephany Tandy-Connor, Jenna Guiltinan, Kate Krempely, Holly LaDuca, Patrick Reineke, Stephanie Gutierrez, Phillip Gray, Brigette Tippin Davis
出版 2018Artigo -
2
Diagnostic Exome Sequencing Identifies a Novel Gene,<i>EMILIN1</i>, Associated with Autosomal‐Dominant Hereditary Connective Tissue Disease 由 Alessandra Capuano, Francesco Bucciotti, Kelly D. Farwell, Brigette Tippin Davis, Cameron Mroske, Peter J. Hulick, Scott M. Weissman, Qingshen Gao, Paola Spessotto, Alfonso Colombatti, Roberto Doliana
出版 2015Artigo -
3
Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls 由 Jenna Lilyquist, Holly LaDuca, Eric C. Polley, Brigette Tippin Davis, Hermela Shimelis, Chunling Hu, Steven N. Hart, Jill S. Dolinsky, Fergus J. Couch, David E. Goldgar
出版 2017Artigo -
4
<i>BRAT1</i> mutations present with a spectrum of clinical severity 由 Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn A. Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W. Yu, David T. Miller, Janet S. Soul, Andrea Poretti, SakkuBai Naidu
出版 2016Revisão -
5
Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes 由 Chunling Hu, Holly LaDuca, Hermela Shimelis, Eric C. Polley, Jenna Lilyquist, Steven N. Hart, Jie Na, Abigail Thomas, Kun Y. Lee, Brigette Tippin Davis, Mary Helen Black, Tina Pesaran, David E. Goldgar, Jill S. Dolinsky, Fergus J. Couch
出版 2018Artigo -
6
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing 由 Hsiao‐Mei Lu, Shuwei Li, Mary Helen Black, Shela Lee, Robert Hoiness, Sitao Wu, Wenbo Mu, Robert Huether, Jefferey Chen, Srijani Sridhar, Yuan Tian, Rachel McFarland, Jill S. Dolinsky, Brigette Tippin Davis, Sharon Mexal, Charles Dunlop, Aaron Elliott
出版 2018Artigo -
7
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk pa... 由 Holly LaDuca, Eric C. Polley, Amal Yussuf, Lily Hoang, Stephanie Gutierrez, Steven N. Hart, Siddhartha Yadav, Chunling Hu, Jie Na, David E. Goldgar, Kelly Fulk, Laura P. Smith, Carolyn Horton, Jessica Profato, Tina Pesaran, Chia-Ling Gau, Melissa Pronold, Brigette Tippin Davis, Elizabeth Chao, Fergus J. Couch, Jill S. Dolinsky
出版 2019Artigo -
8
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions 由 Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen, Zöe Powis, Elizabeth Chao, Brigette Tippin Davis, Ruth M. Baxter, Wenqi Zeng, Cameron Mroske, Melissa Parra, Stephanie Gandomi, Ira Lu, Xiang Li, Hong Lu, Hsiao‐Mei Lu, David Salvador, David Ruble, Monica Lao, Soren Fischbach, Jennifer X. Wen, Shela Lee, Aaron Elliott, Charles Dunlop, Sha Tang
出版 2014Artigo -
9
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer 由 Rachid Karam, Blair R. Conner, Holly LaDuca, Kelly McGoldrick, Kate Krempely, Marcy E. Richardson, Heather Zimmermann, Stephanie Gutierrez, Patrick Reineke, Lily Hoang, Kyle Allen, Amal Yussuf, Suzette Farber-Katz, Huma Q. Rana, Samantha Culver, John Lee, Sarah Nashed, Deborah Toppmeyer, Debra L. Collins, Ginger Haynes, Tina Pesaran, Jill S. Dolinsky, Brigette Tippin Davis, Aaron Elliott, Elizabeth Chao
出版 2019Artigo -
10
Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing 由 Hermela Shimelis, Holly LaDuca, Chunling Hu, Steven N. Hart, Jie Na, Abigail Thomas, Margaret Akinhanmi, Raymond M. Moore, Hiltrud Brauch, Angela Cox, Diana Eccles, Amanda E. Toland, Peter A. Fasching, Florentia Fostira, Judy E. Garber, Andrew K. Godwin, Irene Konstantopoulou, Heli Nevanlinna, Priyanka Sharma, Drakoulis Yannoukakos, Song Yao, Bing Feng, Brigette Tippin Davis, Jenna Lilyquist, Tina Pesaran, David E. Goldgar, Eric C. Polley, Jill S. Dolinsky, Fergus J. Couch
出版 2018Artigo -
11
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes 由 Tyler Landrith, Bing Li, Ashley Cass, Blair R. Conner, Holly LaDuca, Danielle McKenna, Kara N. Maxwell, Susan M. Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan Depas, Shraddha Gaonkar, Sara Pirzadeh‐Miller, Rebekah C. Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara J. Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda Ganzak, Sitao Wu, Huy Gia 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
出版 2020Artigo
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Biology
Gene
Genetics
Medicine
Internal medicine
Mutation
Genetic testing
Cancer
Oncology
Breast cancer
Disease
Germline mutation
Ovarian cancer
Bioinformatics
DNA mismatch repair
Environmental health
Exome sequencing
Genetic predisposition
PALB2
Population
Colorectal cancer
Compound heterozygosity
Exome
Genotype
Germline
Lynch syndrome
Missense mutation
Odds ratio
Paleontology
Phenotype