Professional Responsibilities Regarding the Provision, Publication and Dissemination of Patient Phenotypes in the Context of Clinical Genetic and Genomic Testing: Points to Conside...

por Bush, Lynn W., Beck, Anita E., Biesecker, Leslie G., Evans, James P., Hamosh, Ada, Holm, Ingrid A., Martin, Christa L., Richards, C. Sue, Rehm, Heidi L.
Publicado 2018

Reliability of KRAS mutation testing in metastatic colorectal cancer patients across five laboratories

por Feigelson, Heather Spencer, Goddard, Katrina AB, Johnson, Monique A, Funk, Kellyan C, Rahm, Alanna Kulchak, Kauffman, Tia L, Chitale, Dhananjay A, Le Marchand, Loic, Richards, C Sue
Publicado 2012

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

por Kauffman, Tia L., Wilfond, Benjamin S., Jarvik, Gail P., Leo, Michael C., Lynch, Frances L., Reiss, Jacob A., Richards, C. Sue, McMullen, Carmit, Nickerson, Deborah, Dorschner, Michael O., Goddard, Katrina A.B.
Publicado 2016

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

por Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.
Publicado 2004

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

por Himes, Patricia, Kauffman, Tia L., Muessig, Kristin R., Amendola, Laura M., Berg, Jonathan S., Dorschner, Michael O., Gilmore, Marian, Nickerson, Deborah A., Reiss, Jacob A., Richards, C. Sue, Rope, Alan F., Simpson, Dana K., Wilfond, Benjamin S., Jarvik, Gail P., Goddard, Katrina A.B.
Publicado 2017

A case for expanding carrier testing to include actionable X‐linked disorders

por Rope, Alan F., Kauffman, Tia L., Himes, Pat, Amendola, Laura M., Punj, Sumit, Akkari, Yassmine, Potter, Amiee, Davis, James V., Schneider, Jennifer L., Reiss, Jacob A., Gilmore, Mari J., McMullen, Carmit K., Nickerson, Deborah A., Richards, C. Sue, Jarvik, Gail P., Wilfond, Benjamin S., Goddard, Katrina A. B.
Publicado 2018

Does KRAS Testing in Metastatic Colorectal Cancer Impact Overall Survival? A Comparative Effectiveness Study in a Population-Based Sample

por Feigelson, Heather Spencer, Zeng, Chan, Pawloski, Pamala A., Onitilo, Adedayo A., Richards, C. Sue, Johnson, Monique A., Kauffman, Tia L., Webster, Jennifer, Nyirenda, Carsie, Alexander, Gwen L., Hwang, Clara, Cross, Deanna, McCarty, Catherine A., Davis, Robert L., Schwarzkopf, Denise, Williams, Andrew E., Honda, Stacey, Daida, Yihe, Kushi, Lawrence H., Delate, Thomas, Goddard, Katrina A. B.
Publicado 2014

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

por O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Johnson, Amy Knight, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.
Publicado 2016

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

por Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.
Publicado 2015