Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer
Hu, Chunling, Hart, Steven N, Polley, Eric C, Gnanaolivu, Rohan, Shimelis, Hermela, Lee, Kun Y, Lilyquist, Jenna, Na, Jie, Moore, Raymond, Antwi, Samuel O, Bamlet, William R, Chaffee, Kari G, DiCarlo, John, Wu, Zhong, Samara, Raed, Kasi, Pashtoon M, McWilliams, Robert R, Petersen, Gloria M, Couch, Fergus J
Published in JAMA : the journal of the American Medical Association (19.06.2018)
Published in JAMA : the journal of the American Medical Association (19.06.2018)
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Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing
Shimelis, Hermela, LaDuca, Holly, Hu, Chunling, Hart, Steven N, Na, Jie, Thomas, Abigail, Akinhanmi, Margaret, Moore, Raymond M, Brauch, Hiltrud, Cox, Angela, Eccles, Diana M, Ewart-Toland, Amanda, Fasching, Peter A, Fostira, Florentia, Garber, Judy, Godwin, Andrew K, Konstantopoulou, Irene, Nevanlinna, Heli, Sharma, Priyanka, Yannoukakos, Drakoulis, Yao, Song, Feng, Bing-Jian, Tippin Davis, Brigette, Lilyquist, Jenna, Pesaran, Tina, Goldgar, David E, Polley, Eric C, Dolinsky, Jill S, Couch, Fergus J
Published in JNCI : Journal of the National Cancer Institute (01.08.2018)
Published in JNCI : Journal of the National Cancer Institute (01.08.2018)
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Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls
Lilyquist, Jenna, LaDuca, Holly, Polley, Eric, Davis, Brigette Tippin, Shimelis, Hermela, Hu, Chunling, Hart, Steven N., Dolinsky, Jill S., Couch, Fergus J., Goldgar, David E.
Published in Gynecologic oncology (01.11.2017)
Published in Gynecologic oncology (01.11.2017)
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The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort
Hu, Chunling, Polley, Eric C, Yadav, Siddhartha, Lilyquist, Jenna, Shimelis, Hermela, Na, Jie, Hart, Steven N, Goldgar, David E, Shah, Swati, Pesaran, Tina, Dolinsky, Jill S, LaDuca, Holly, Couch, Fergus J
Published in JNCI : Journal of the National Cancer Institute (14.12.2020)
Published in JNCI : Journal of the National Cancer Institute (14.12.2020)
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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer
Couch, Fergus J, Shimelis, Hermela, Hu, Chunling, Hart, Steven N, Polley, Eric C, Na, Jie, Hallberg, Emily, Moore, Raymond, Thomas, Abigail, Lilyquist, Jenna, Feng, Bingjian, McFarland, Rachel, Pesaran, Tina, Huether, Robert, LaDuca, Holly, Chao, Elizabeth C, Goldgar, David E, Dolinsky, Jill S
Published in JAMA oncology (01.09.2017)
Published in JAMA oncology (01.09.2017)
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Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma
Graham, Rondell P., MBBS, Barr Fritcher, Emily G, Pestova, Ekaterina, PhD, Schulz, John, Sitailo, Leonid A., PhD, Vasmatzis, George, PhD, Murphy, Stephen J., PhD, McWilliams, Robert R., MD, Hart, Steven N., PhD, Halling, Kevin C., MD, PhD, Roberts, Lewis R., MB, ChB, PhD, Gores, Gregory J., MD, Couch, Fergus J., PhD, Zhang, Lizhi, MD, Borad, Mitesh J., MD, Kipp, Benjamin R., PhD
Published in Human pathology (01.08.2014)
Published in Human pathology (01.08.2014)
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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 patients
LaDuca, Holly, Polley, Eric C., Yussuf, Amal, Hoang, Lily, Gutierrez, Stephanie, Hart, Steven N., Yadav, Siddhartha, Hu, Chunling, Na, Jie, Goldgar, David E., Fulk, Kelly, Smith, Laura Panos, Horton, Carolyn, Profato, Jessica, Pesaran, Tina, Gau, Chia-Ling, Pronold, Melissa, Davis, Brigette Tippin, Chao, Elizabeth C., Couch, Fergus J., Dolinsky, Jill S.
Published in Genetics in medicine (01.02.2020)
Published in Genetics in medicine (01.02.2020)
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Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer
Maxwell, Kara N., Hart, Steven N., Vijai, Joseph, Schrader, Kasmintan A., Slavin, Thomas P., Thomas, Tinu, Wubbenhorst, Bradley, Ravichandran, Vignesh, Moore, Raymond M., Hu, Chunling, Guidugli, Lucia, Wenz, Brandon, Domchek, Susan M., Robson, Mark E., Szabo, Csilla, Neuhausen, Susan L., Weitzel, Jeffrey N., Offit, Kenneth, Couch, Fergus J., Nathanson, Katherine L.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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A Comparison of Whole Genome Gene Expression Profiles of HepaRG Cells and HepG2 Cells to Primary Human Hepatocytes and Human Liver Tissues
HART, Steven N, YE LI, NAKAMOTO, Kaori, SUBILEAU, Eva-Anne, STEEN, David, ZHONG, Xiao-Bo
Published in Drug metabolism and disposition (01.06.2010)
Published in Drug metabolism and disposition (01.06.2010)
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Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities
Cosgrove, Nicola, Varešlija, Damir, Keelan, Stephen, Elangovan, Ashuvinee, Atkinson, Jennifer M., Cocchiglia, Sinéad, Bane, Fiona T., Singh, Vikrant, Furney, Simon, Hu, Chunling, Carter, Jodi M., Hart, Steven N., Yadav, Siddhartha, Goetz, Matthew P., Hill, Arnold D. K., Oesterreich, Steffi, Lee, Adrian V., Couch, Fergus J., Young, Leonie S.
Published in Nature communications (26.01.2022)
Published in Nature communications (26.01.2022)
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Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer
Kiiski, Johanna I., Pelttari, Liisa M., Khan, Sofia, Freysteinsdottir, Edda S., Reynisdottir, Inga, Hart, Steven N., Shimelis, Hermela, Vilske, Sara, Kallioniemi, Anne, Schleutker, Johanna, Leminen, Arto, Bützow, Ralf, Blomqvist, Carl, Barkardottir, Rosa B., Couch, Fergus J., Aittomäki, Kristiina, Nevanlinna, Heli
Published in Proceedings of the National Academy of Sciences - PNAS (21.10.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (21.10.2014)
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Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy
Kendig, Katherine I, Baheti, Saurabh, Bockol, Matthew A, Drucker, Travis M, Hart, Steven N, Heldenbrand, Jacob R, Hernaez, Mikel, Hudson, Matthew E, Kalmbach, Michael T, Klee, Eric W, Mattson, Nathan R, Ross, Christian A, Taschuk, Morgan, Wieben, Eric D, Wiepert, Mathieu, Wildman, Derek E, Mainzer, Liudmila S
Published in Frontiers in genetics (20.08.2019)
Published in Frontiers in genetics (20.08.2019)
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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance
Richardson, Marcy E., Hu, Chunling, Lee, Kun Y., LaDuca, Holly, Fulk, Kelly, Durda, Kate M., Deckman, Ashley M., Goldgar, David E., Monteiro, Alvaro N.A., Gnanaolivu, Rohan, Hart, Steven N., Polley, Eric C., Chao, Elizabeth, Pesaran, Tina, Couch, Fergus J.
Published in American journal of human genetics (04.03.2021)
Published in American journal of human genetics (04.03.2021)
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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models
Hart, Steven N., Hoskin, Tanya, Shimelis, Hermela, Moore, Raymond M., Feng, Bingjian, Thomas, Abigail, Lindor, Noralane M., Polley, Eric C., Goldgar, David E., Iversen, Edwin, Monteiro, Alvaro N.A., Suman, Vera J., Couch, Fergus J.
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
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Recommendations for performance optimizations when using GATK3.8 and GATK4
Heldenbrand, Jacob R, Baheti, Saurabh, Bockol, Matthew A, Drucker, Travis M, Hart, Steven N, Hudson, Matthew E, Iyer, Ravishankar K, Kalmbach, Michael T, Kendig, Katherine I, Klee, Eric W, Mattson, Nathan R, Wieben, Eric D, Wiepert, Mathieu, Wildman, Derek E, Mainzer, Liudmila S
Published in BMC bioinformatics (08.11.2019)
Published in BMC bioinformatics (08.11.2019)
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The Biological Reference Repository (BioR): a rapid and flexible system for genomics annotation
Kocher, Jean-Pierre A, Quest, Daniel J, Duffy, Patrick, Meiners, Michael A, Moore, Raymond M, Rider, David, Hossain, Asif, Hart, Steven N, Dinu, Valentin
Published in Bioinformatics (Oxford, England) (01.07.2014)
Published in Bioinformatics (Oxford, England) (01.07.2014)
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Design considerations for workflow management systems use in production genomics research and the clinic
Ahmed, Azza E., Allen, Joshua M., Bhat, Tajesvi, Burra, Prakruthi, Fliege, Christina E., Hart, Steven N., Heldenbrand, Jacob R., Hudson, Matthew E., Istanto, Dave Deandre, Kalmbach, Michael T., Kapraun, Gregory D., Kendig, Katherine I., Kendzior, Matthew Charles, Klee, Eric W., Mattson, Nate, Ross, Christian A., Sharif, Sami M., Venkatakrishnan, Ramshankar, Fadlelmola, Faisal M., Mainzer, Liudmila S.
Published in Scientific reports (04.11.2021)
Published in Scientific reports (04.11.2021)
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