Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory

por Gardner, Sabrina A., Weymouth, Katelyn S., Kelly, Wei S., Bogdanova, Ekaterina, Chen, Wenjie, Lupu, Daniel, Suhl, Joshua, Zeng, Qiandong, Geigenmüller, Ute, Boles, Debbie, Okamoto, Patricia M., McDowell, Geraldine, Hayden, Melissa A., Nagan, Narasimhan
Publicado 2018

539. GS-CA2: A Novel, Potent, and Selective First-In-class Inhibitor of HIV-1 Capsid Function Displays Nonclinical Pharmacokinetics Supporting Long-Acting Potential in Humans

por Zheng, Jim, Yant, Stephen R, Ahmadyar, Shekeba, Chan, Tiffany Y, Chiu, Anna, Cihlar, Tomas, Link, John O, Lu, Bing, Mwangi, Judy, Rowe, William, Schroeder, Scott D, Stepan, George J, Wang, Kelly Wei, Subramanian, Raju, Tse, Winston C
Publicado 2018

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

por Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.
Publicado 2021