Li‐Fraumeni versus Pseudo‐Li‐Fraumeni Syndrome: Key Insights for Interpreting Next‐Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes

por Sorscher, Steven, Desnoyers, Rodwige, Ouyang, Karen, Ramkissoon, Shakti
Publicado 2017

BLM SUMOylation regulates ssDNA accumulation at stalled replication forks

por Ouyang, Karen J., Yagle, Mary K., Matunis, Michael J., Ellis, Nathan A.
Publicado 2013

SUMO Modification Regulates BLM and RAD51 Interaction at Damaged Replication Forks

por Ouyang, Karen J., Woo, Leslie L., Zhu, Jianmei, Huo, Dezheng, Matunis, Michael J., Ellis, Nathan A.
Publicado 2009

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

por O’Leary, Erin, Iacoboni, Daniela, Holle, Jennifer, Michalski, Scott T., Esplin, Edward D., Yang, Shan, Ouyang, Karen
Publicado 2017

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance

por Johnson, Britt, Ouyang, Karen, Frank, Lauren, Truty, Rebecca, Rojahn, Susan, Morales, Ana, Aradhya, Swaroop, Nykamp, Keith
Publicado 2022

Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T

por Drendel, Holli M., Pike, Jason E., Schumacher, Katherine, Ouyang, Karen, Wang, Jing, Stuy, Mary, Dlouhy, Stephen, Bai, Shaochun
Publicado 2015

Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy

por Celestino-Soper, Patrícia B. S., Lynnes, Ty C., Zhang, Lili, Ouyang, Karen, Wann, Samuel, Clyde, Victoria L., Vatta, Matteo
Publicado 2018

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

por Truty, Rebecca, Ouyang, Karen, Rojahn, Susan, Garcia, Sarah, Colavin, Alexandre, Hamlington, Barbara, Freivogel, Mary, Nussbaum, Robert L., Nykamp, Keith, Aradhya, Swaroop
Publicado 2021

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

por Chen, Elaine, Facio, Flavia M., Aradhya, Kerry W., Rojahn, Susan, Hatchell, Kathryn E., Aguilar, Sienna, Ouyang, Karen, Saitta, Sulagna, Hanson-Kwan, Andrea K., Capurro, Nicole Nakousi, Takamine, Eriko, Jamuar, Saumya Shekhar, McKnight, Dianalee, Johnson, Britt, Aradhya, Swaroop
Publicado 2023

Measuring the predictability of life outcomes with a scientific mass collaboration

por Salganik, Matthew J., Lundberg, Ian, Kindel, Alexander T., Ahearn, Caitlin E., Al-Ghoneim, Khaled, Almaatouq, Abdullah, Altschul, Drew M., Brand, Jennie E., Carnegie, Nicole Bohme, Compton, Ryan James, Datta, Debanjan, Davidson, Thomas, Filippova, Anna, Gilroy, Connor, Goode, Brian J., Jahani, Eaman, Kashyap, Ridhi, Kirchner, Antje, McKay, Stephen, Morgan, Allison C., Pentland, Alex, Polimis, Kivan, Raes, Louis, Rigobon, Daniel E., Roberts, Claudia V., Stanescu, Diana M., Suhara, Yoshihiko, Usmani, Adaner, Wang, Erik H., Adem, Muna, Alhajri, Abdulla, AlShebli, Bedoor, Amin, Redwane, Amos, Ryan B., Argyle, Lisa P., Baer-Bositis, Livia, Büchi, Moritz, Chung, Bo-Ryehn, Eggert, William, Faletto, Gregory, Fan, Zhilin, Freese, Jeremy, Gadgil, Tejomay, Gagné, Josh, Gao, Yue, Halpern-Manners, Andrew, Hashim, Sonia P., Hausen, Sonia, He, Guanhua, Higuera, Kimberly, Hogan, Bernie, Horwitz, Ilana M., Hummel, Lisa M., Jain, Naman, Jin, Kun, Jurgens, David, Kaminski, Patrick, Karapetyan, Areg, Kim, E. H., Leizman, Ben, Liu, Naijia, Möser, Malte, Mack, Andrew E., Mahajan, Mayank, Mandell, Noah, Marahrens, Helge, Mercado-Garcia, Diana, Mocz, Viola, Mueller-Gastell, Katariina, Musse, Ahmed, Niu, Qiankun, Nowak, William, Omidvar, Hamidreza, Or, Andrew, Ouyang, Karen, Pinto, Katy M., Porter, Ethan, Porter, Kristin E., Qian, Crystal, Rauf, Tamkinat, Sargsyan, Anahit, Schaffner, Thomas, Schnabel, Landon, Schonfeld, Bryan, Sender, Ben, Tang, Jonathan D., Tsurkov, Emma, van Loon, Austin, Varol, Onur, Wang, Xiafei, Wang, Zhi, Wang, Julia, Wang, Flora, Weissman, Samantha, Whitaker, Kirstie, Wolters, Maria K., Woon, Wei Lee, Wu, James, Wu, Catherine, Yang, Kengran, Yin, Jingwen, Zhao, Bingyu, Zhu, Chenyun, Brooks-Gunn, Jeanne, Engelhardt, Barbara E., Hardt, Moritz, Knox, Dean, Levy, Karen, Narayanan, Arvind, Stewart, Brandon M., Watts, Duncan J., McLanahan, Sara
Publicado 2020