Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Autor: Harley, John, Myers, Melanie, Namjou, Bahram, Vinks, Sander, Connolly, John, Keating, Brendan, Gerhard, Glenn, Sundaresan, Agnes, Tromp, Gerard, Crosslin, David, Leppig, Kathy, Wicklund, Cathy, Chute, Christopher, Lynch, John, De Andrade, Mariza, Heit, John, McCormick, Jen, Brilliant, Murray, Kitchner, Terrie, Ritchie, Marylyn, Böttinger, Erwin, Peter, Inga, Persell, Stephen, Rasmussen-Torvik, Laura, McGregor, Tracy, Roden, Dan, Antommaria, Armand, Chiavacci, Rosetta, Faucett, Andy, Ledbetter, David, Williams, Janet, Hartzler, Andrea, Vitek, Carolyn R. Rohrer, Frost, Norm, Ferryman, Kadija, Horowitz, Carol, Rhodes, Rosamond, Zinberg, Randi, Aufox, Sharon, Pan, Vivian, Long, Rochelle, Ramos, Erin, Odgis, Jackie, Wise, Anastasia, Hull, Sara, Gitlin, Jonathan, Green, Robert, Metterville, Danielle, McGuire, Amy, Kong, Sek Won, Trinidad, Sue, Veenstra, David, Roche, Myra, Skinner, Debra, Raspberry, Kelly, O’Daniel, Julianne, Parsons, Will, Eng, Christine, Hilsenbeck, Susan, Karavite, Dean, Conlin, Laura, Spinner, Nancy, Krantz, Ian, Falk, Marni, Santani, Avni, Dechene, Elizabeth, Dulik, Matthew, Bernhardt, Barbara, Schuetze, Scott, Everett, Jessica, Gornick, Michele Caroline, Wilfond, Ben, Tabor, Holly, Lemke, Amy A., Richards, Sue, Goddard, Katrina, Cooper, Greg, East, Kelly, Barsh, Greg, Koenig, Barbara, Van Allen, Eliezer, Garber, Judy, Garrett, Jeremy, Zawati, Ma’n, Lewis, Michelle, Savage, Sarah, Smith, Maureen, Roychowdhury, Sameek, Bailey, Alice, Berkman, Benjamin, Anan, Charlisse Caga, Hindorff, Lucia, Hutter, Carolyn, King, Rosalind, Li, Rongling, Lockhart, Nicole, McEwen, Jean, Scholes, Derek, Schully, Sheri, Sun, Kathie, Jarvik, Gail P., Amendola, Laura M., Berg, Jonathan S., Brothers, Kyle, Clayton, Ellen W., Chung, Wendy, Evans, Barbara J., Evans, James P., Fullerton, Stephanie M., Gallego, Carlos J., Garrison, Nanibaa’ A., Gray, Stacy W., Holm, Ingrid A., Kullo, Iftikhar J., Lehmann, Lisa Soleymani, McCarty, Cathy, Prows, Cynthia A., Rehm, Heidi L., Sharp, Richard R., Salama, Joseph, Sanderson, Saskia, Van Driest, Sara L., Williams, Marc S., Wolf, Susan M., Wolf, Wendy A., Burke, Wylie

Publikováno v: In The American Journal of Human Genetics 5 June 2014 94(6):818-826

Weighing the evidence for newborn screening for early-infantile Krabbe disease

Autor: Kemper, Alex R. ^*, Knapp, Alixandra A., Green, Nancy S., Comeau, Anne Marie, Metterville, Danielle R., Perrin, James M.

Publikováno v: In Genetics in Medicine September 2010 12(9):539-543

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

Autor: Taylor, Kent D., Ranchalis, Jane, Murray, Mitzi L., Foreman, Ann Katherine M., Jamal, Seema M., Johnson, Andrew D., Gallego, Carlos J., Jarvik, Ella R., Shirts, Brian H., Dulik, Matthew C., Crosslin, David R., Dorschner, Michael O., Kim, Daniel Seung, Herman, Daniel S., Lee, Kristy, Santani, Avni, Turner, Emily H., Bennett, James T., Abrudan, Jenica L., Jones, Kelly L., Itsara, Andy, Salama, Joseph S., Robertson, Peggy D., Amendola, Laura M., Kelly, Melissa, Conlin, Laura K., Schleit, Jennifer, Burt, Amber, Hart, Ragan, Tokita, Mari J., Metterville, Danielle R., Rosenthal, Elisabeth A.

Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the criteria and processes for assigning the pathogenicity of specific variants and to estimate the fr

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White matter hyperintensity volume assessment in patients with Fabry disease

Autor: Rost, Natalia, Metterville, Danielle R., Cloonan, Lisa K., Fitzpatrick, Kaitlin M., Germain, Dominique, Politei, Juan M., Sims, Katherine B.

Publikováno v: In Molecular Genetics and Metabolism February 2013 108(2):S80-S80