The impact of COVID-19 on pediatric diagnostic odysseys

por Waltz, Margaret, Bensen, Jeannette, Foreman, Ann Katherine M., Grant, Tracey, Lich, Kristen Hassmiller, Mollison, Lonna, Staley, Brooke, Cadigan, R. Jean
Publicado 2021

Genomic Knowledge in the Context of Diagnostic Exome Sequencing: Changes over Time, Persistent Subgroup Differences, and Associations with Psychological Sequencing Outcomes

por Rini, Christine, Henderson, Gail E., Evans, James P., Berg, Jonathan S., Foreman, Ann Katherine M., Griesemer, Ida, Waltz, Margaret, O’Daniel, Julianne M., Roche, Myra I.
Publicado 2019

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

por DeCristo, Daniela M., Milko, Laura V., O’Daniel, Julianne M., Foreman, Ann Katherine M., Mollison, Lonna F., Powell, Bradford C., Powell, Cynthia M., Berg, Jonathan S.
Publicado 2021

The who, what and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

por Rini, Christine, Khan, Cynthia M., Moore, Elizabeth, Roche, Myra I., Evans, James P., Berg, Jonathan S., Powell, Bradford C., Corbie-Smith, Giselle, Foreman, Ann Katherine M., Griesemer, Ida, Lee, Kristy, O’Daniel, Julianne M., Henderson, Gail E.
Publicado 2017

Factors influencing NCGENES research participants’ requests for non-medically actionable secondary findings

por Roche, Myra I., Griesemer, Ida, Khan, Cynthia M., Moore, Elizabeth, Lin, Feng-Chang, O’Daniel, Julianne M., Foreman, Ann Katherine M., Lee, Kristy, Powell, Bradford C., Berg, Jonathan S., Evans, James P., Henderson, Gail E., Rini, Christine
Publicado 2018

Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges

por Vora, Neeta L., Powell, Bradford, Brandt, Alicia, Strande, Natasha, Hardisty, Emily, Gilmore, Kelly, Foreman, Ann Katherine M., Wilhelmsen, Kirk, Bizon, Chris, Reilly, Jason, Owen, Phil, Powell, Cynthia M., Skinner, Debra, Rini, Christine, Lyerly, Anne D., Boggess, Kim A., Weck, Karen, Berg, Jonathan S., Evans, James P.
Publicado 2017

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Seq...

por Staley, Brooke S., Milko, Laura V., Waltz, Margaret, Griesemer, Ida, Mollison, Lonna, Grant, Tracey L., Farnan, Laura, Roche, Myra, Navas, Angelo, Lightfoot, Alexandra, Foreman, Ann Katherine M., O’Daniel, Julianne M., O’Neill, Suzanne C., Lin, Feng-Chang, Roman, Tamara S., Brandt, Alicia, Powell, Bradford C., Rini, Christine, Berg, Jonathan S., Bensen, Jeannette T.
Publicado 2021

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

por Berg, Jonathan S., Foreman, Ann Katherine M., O'Daniel, Julianne M., Booker, Jessica K., Boshe, Lacey, Carey, Timothy, Crooks, Kristy R., Jensen, Brian C., Juengst, Eric T., Lee, Kristy, Nelson, Daniel K., Powell, Bradford C., Powell, Cynthia M., Roche, Myra I., Skrzynia, Cecile, Strande, Natasha T., Weck, Karen E., Wilhelmsen, Kirk C., Evans, James P.
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