Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease

بواسطة Esplin, Edward D, Oei, Ling, Snyder, Michael P
الحاوية / القاعدة Pharmacogenomics (2014)

Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk

بواسطة O’Leary, Erin, Iacoboni, Daniela, Holle, Jennifer, Michalski, Scott T., Esplin, Edward D., Yang, Shan, Ouyang, Karen
الحاوية / القاعدة Ann Surg Oncol (2017)

46,XY Disorders of Sex Development and Congenital Diaphragmatic Hernia: A Case with Dysmorphic Facies, Truncus Arteriosus, Bifid Thymus, Gut Malrotation, Rhizomelia, and Adactyly

بواسطة Esplin, Edward D., Chaib, Hassan, Haney, Michael, Martin, Brock, Homeyer, Margaret, Urban, Alexander E., Bernstein, Jonathan A.
الحاوية / القاعدة Am J Med Genet A (2015)

Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines

بواسطة Nicolosi, Piper, Ledet, Elisa, Yang, Shan, Michalski, Scott, Freschi, Brandy, O’Leary, Erin, Esplin, Edward D., Nussbaum, Robert L., Sartor, Oliver
الحاوية / القاعدة JAMA Oncol (2019)

Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer

بواسطة Lincoln, Stephen E., Nussbaum, Robert L., Kurian, Allison W., Nielsen, Sarah M., Das, Kingshuk, Michalski, Scott, Yang, Shan, Ngo, Nhu, Blanco, Amie, Esplin, Edward D.
الحاوية / القاعدة JAMA Netw Open (2020)

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis

بواسطة Sturm, Amy C., Truty, Rebecca, Callis, Thomas E., Aguilar, Sienna, Esplin, Edward D., Garcia, Sarah, Haverfield, Eden V., Morales, Ana, Nussbaum, Robert L., Rojahn, Susan, Vatta, Matteo, Rader, Daniel J.
الحاوية / القاعدة JAMA Cardiol (2021)

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

بواسطة Truty, Rebecca, Patil, Nila, Sankar, Raman, Sullivan, Joseph, Millichap, John, Carvill, Gemma, Entezam, Ali, Esplin, Edward D., Fuller, Amy, Hogue, Michelle, Johnson, Britt, Khouzam, Amirah, Kobayashi, Yuya, Lewis, Rachel, Nykamp, Keith, Riethmaier, Darlene, Westbrook, Jody, Zeman, Michelle, Nussbaum, Robert L., Aradhya, Swaroop
الحاوية / القاعدة Epilepsia Open (2019)

Multigene Panel Testing in Individuals With Hepatocellular Carcinoma Identifies Pathogenic Germline Variants

بواسطة Mezina, Anya, Philips, Neil, Bogus, Zoe, Erez, Noam, Xiao, Rui, Fan, Ruoming, Olthoff, Kim M., Reddy, K. Rajender, Samadder, N. Jewel, Nielsen, Sarah M., Hatchell, Kathryn E., Esplin, Edward D., Rustgi, Anil K., Katona, Bryson W., Hoteit, Maarouf A., Nathanson, Katherine L., Wangensteen, Kirk J.
الحاوية / القاعدة JCO Precis Oncol (2021)

Germline hemizygous deletion of CDKN2A–CDKN2B locus in a patient presenting with Li–Fraumeni syndrome

بواسطة Chan, Sock Hoai, Lim, Weng Khong, Michalski, Scott T, Lim, Jing Quan, Ishak, Nur Diana Binte, Met-Domestici, Marie, Young, Cedric Ng Chuan, Vikstrom, Karen, Esplin, Edward D, Fulbright, Jennifer, Ang, Mei Kim, Wee, Joseph, Sittampalam, Kesavan, Farid, Mohamad, Lincoln, Stephen E, Itahana, Koji, Abdullah, Syafiq, Teh, Bin Tean, Ngeow, Joanne
الحاوية / القاعدة NPJ Genom Med (2016)

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma

بواسطة Nassar, Amin H., Abou Alaiwi, Sarah, AlDubayan, Saud H., Moore, Nicholas, Mouw, Kent W., Kwiatkowski, David J., Choueiri, Toni K., Curran, Catherine, Berchuck, Jacob E., Harshman, Lauren C., Nuzzo, Pier V., Chanza, Nieves Martinez, Van Allen, Eliezer, Esplin, Edward D., Yang, Shan, Callis, Thomas, Garber, Judy E., Rana, Huma Q., Sonpavde, Guru
الحاوية / القاعدة Genet Med (2019)

Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Prog...

بواسطة DiNucci, Anna, Henrikson, Nora B., Jonas, M. Cabell, Basra, Sundeep, Blasi, Paula, Brown, Jennifer, Esplin, Edward D., Hassen, Dina, Hao, Jing, Hu, Yirui, Klinger, Tracey, Ladd, Ilene, Leppig, Kathleen, Lewis, Meredith, Meyer, Michelle, Ney, Steven, Ramaprasan, Arvind, Romagnoli, Katrina, Salvati, Zachary, Scrol, Aaron, Schwiter, Rachel, Sheridan, Leigh, Somasundaram, Brinda, Suwannarat, Pim, Wagner, Jennifer K., Rahm, Alanna K.
الحاوية / القاعدة J Pers Med (2021)

Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome

بواسطة Samadder, N. Jewel, Riegert-Johnson, Douglas, Boardman, Lisa, Rhodes, Deborah, Wick, Myra, Okuno, Scott, Kunze, Katie L., Golafshar, Michael, Uson, Pedro L. S., Mountjoy, Luke, Ertz-Archambault, Natalie, Patel, Neej, Rodriguez, Eduardo A., Lizaola-Mayo, Blanca, Lehrer, Michael, Thorpe, Cameron S., Yu, Nathan Y., Esplin, Edward D., Nussbaum, Robert L., Sharp, Richard R., Azevedo, Cindy, Klint, Margaret, Hager, Megan, Macklin-Mantia, Sarah, Bryce, Alan H., Bekaii-Saab, Tanios S., Sekulic, Aleksandar, Stewart, A. Keith
الحاوية / القاعدة JAMA Oncol (2020)

Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hyp...

بواسطة Campbell-Salome, Gemme, Jones, Laney K., Masnick, Max F., Walton, Nephi A., Ahmed, Catherine D., Buchanan, Adam H., Brangan, Andrew, Esplin, Edward D., Kann, David G., Ladd, Ilene G., Kelly, Melissa A., Kindt, Iris, Kirchner, H. Lester, McGowan, Mary P., McMinn, Megan N., Morales, Ana, Myers, Kelly D., Oetjens, Matthew T., Rahm, Alanna Kulchak, Schmidlen, Tara J., Sheldon, Amanda, Simmons, Emilie, Snir, Moran, Strande, Natasha T., Walters, Nicole L., Wilemon, Katherine, Williams, Marc S., Gidding, Samuel S., Sturm, Amy C.
الحاوية / القاعدة Circ Genom Precis Med (2021)

The Human Tumor Atlas Network: Charting Tumor Transitions across Space and Time at Single-Cell Resolution

بواسطة Rozenblatt-Rosen, Orit, Regev, Aviv, Oberdoerffer, Philipp, Nawy, Tal, Hupalowska, Anna, Rood, Jennifer E., Ashenberg, Orr, Cerami, Ethan, Coffey, Robert J., Demir, Emek, Ding, Li, Esplin, Edward D., Ford, James M., Goecks, Jeremy, Ghosh, Sharmistha, Gray, Joe W., Guinney, Justin, Hanlon, Sean E., Hughes, Shannon K., Hwang, E. Shelley, Iacobuzio-Donahue, Christine A., Jané-Valbuena, Judit, Johnson, Bruce E., Lau, Ken S., Lively, Tracy, Mazzilli, Sarah A., Pe’er, Dana, Santagata, Sandro, Shalek, Alex K., Schapiro, Denis, Snyder, Michael P., Sorger, Peter K., Spira, Avrum E., Srivastava, Sudhir, Tan, Kai, West, Robert B., Williams, Elizabeth H.
الحاوية / القاعدة Cell (2020)