False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

por Tandy-Connor, Stephany, Guiltinan, Jenna, Krempely, Kate, LaDuca, Holly, Reineke, Patrick, Gutierrez, Stephanie, Gray, Phillip, Tippin Davis, Brigette
Publicado 2018

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal‐Dominant Hereditary Connective Tissue Disease

por Capuano, Alessandra, Bucciotti, Francesco, Farwell, Kelly D., Tippin Davis, Brigette, Mroske, Cameron, Hulick, Peter J., Weissman, Scott M., Gao, Qingshen, Spessotto, Paola, Colombatti, Alfonso, Doliana, Roberto
Publicado 2015

Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay

por Farber-Katz, Suzette, Hsuan, Vickie, Wu, Sitao, Landrith, Tyler, Vuong, Huy, Xu, Dong, Li, Bing, Hoo, Jayne, Lam, Stephanie, Nashed, Sarah, Toppmeyer, Deborah, Gray, Phillip, Haynes, Ginger, Lu, Hsiao-Mei, Elliott, Aaron, Tippin Davis, Brigette, Karam, Rachid
Publicado 2018

Validation of a prostate cancer polygenic risk score

por Black, Mary H., Li, Shuwei, LaDuca, Holly, Lo, Min‐Tzu, Chen, Jefferey, Hoiness, Robert, Gutierrez, Stephanie, Tippin‐Davis, Brigette, Lu, Hsiao‐Mei, Gielzak, Marta, Wiley, Kathleen, Shi, Zhuqing, Wei, Jun, Zheng, Siqun Lilly, Helfand, Brian T., Isaacs, William, Xu, Jianfeng
Publicado 2020

Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process

por Salvador, Monalyn U., Truelson, Melissa R.F., Mason, Carla, Souders, Beth, LaDuca, Holly, Dougall, Brittany, Black, Mary Helen, Fulk, Kelly, Profato, Jessica, Gutierrez, Stephanie, Jasperson, Kory, Tippin-Davis, Brigette, Lu, Hsiao-Mei, Gray, Phillip, Shah, Swati, Chao, Elizabeth C., Ghahramani, Negar, Landsverk, Megan, Gau, Chia-Ling, Chen, Daniel, Pronold, Melissa
Publicado 2019

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer

por Karam, Rachid, Conner, Blair, LaDuca, Holly, McGoldrick, Kelly, Krempely, Kate, Richardson, Marcy E., Zimmermann, Heather, Gutierrez, Stephanie, Reineke, Patrick, Hoang, Lily, Allen, Kyle, Yussuf, Amal, Farber-Katz, Suzette, Rana, Huma Q., Culver, Samantha, Lee, John, Nashed, Sarah, Toppmeyer, Deborah, Collins, Debra, Haynes, Ginger, Pesaran, Tina, Dolinsky, Jill S., Tippin Davis, Brigette, Elliott, Aaron, Chao, Elizabeth
Publicado 2019

Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

por 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
Publicado 2018

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

por Landrith, Tyler, Li, Bing, Cass, Ashley A., Conner, Blair R., LaDuca, Holly, McKenna, Danielle B., Maxwell, Kara N., Domchek, Susan, Morman, Nichole A., Heinlen, Christopher, Wham, Deborah, Koptiuch, Cathryn, Vagher, Jennie, Rivera, Ragene, Bunnell, Ann, Patel, Gayle, Geurts, Jennifer L., Depas, Morgan M., Gaonkar, Shraddha, Pirzadeh-Miller, Sara, Krukenberg, Rebekah, Seidel, Meredith, Pilarski, Robert, Farmer, Meagan, Pyrtel, Khateriaa, Milliron, Kara, Lee, John, Hoodfar, Elizabeth, Nathan, Deepika, Ganzak, Amanda C., Wu, Sitao, Vuong, Huy, Xu, Dong, Arulmoli, Aarani, Parra, Melissa, Hoang, Lily, Molparia, Bhuvan, Fennessy, Michele, Fox, Susanne, Charpentier, Sinead, Burdette, Julia, Pesaran, Tina, Profato, Jessica, Smith, Brandon, Haynes, Ginger, Dalton, Emily, Crandall, Joy Rae-Radecki, Baxter, Ruth, Lu, Hsiao-Mei, Tippin-Davis, Brigette, Elliott, Aaron, Chao, Elizabeth, Karam, Rachid
Publicado 2020