Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Disease Program experience

por Lee, Elizabeth M.J., Xu, Karen, Mosbrook, Emma, Links, Amanda, Guzman, Jessica, Adams, David R., Flynn, Elise, Valkanas, Elise, Toro, Camillo, Tifft, Cynthia J., Boerkoel, Cornelius F., Gahl, William A., Sincan, Murat
Publicado 2016

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

por Maduro, Valerie, Pusey, Barbara N., Cherukuri, Praveen F., Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R., Bhatt, Samarth S., Eydoux, Patrice, Links, Amanda E., Lehman, Anna, Malicdan, May C., Mason, Christopher E., Morimoto, Marie, Mullikin, James C., Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.
Publicado 2016

Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

por Links, Amanda E., Draper, David, Lee, Elizabeth, Guzman, Jessica, Valivullah, Zaheer, Maduro, Valerie, Lebedev, Vlad, Didenko, Maxim, Tomlin, Garrick, Brudno, Michael, Girdea, Marta, Dumitriu, Sergiu, Haendel, Melissa A., Mungall, Christopher J., Smedley, Damian, Hochheiser, Harry, Arnold, Andrew M., Coessens, Bert, Verhoeven, Steven, Bone, William, Adams, David, Boerkoel, Cornelius F., Gahl, William A., Sincan, Murat
Publicado 2016

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

por Bone, William P., Washington, Nicole L., Buske, Orion J., Adams, David R., Davis, Joie, Draper, David, Flynn, Elise D., Girdea, Marta, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Jacobsen, Julius, Köhler, Sebastian, Lee, Elizabeth M. J., Links, Amanda E., Markello, Thomas C., Mungall, Christopher J., Nehrebecky, Michele, Robinson, Peter N., Sincan, Murat, Soldatos, Ariane G., Tifft, Cynthia J., Toro, Camilo, Trang, Heather, Valkanas, Elise, Vasilevsky, Nicole, Wahl, Colleen, Wolfe, Lynne A., Boerkoel, Cornelius F., Brudno, Michael, Haendel, Melissa A., Gahl, William A., Smedley, Damian
Publicado 2016

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

por Gall, Timothy, Valkanas, Elise, Bello, Christofer, Markello, Thomas, Adams, Christopher, Bone, William P., Brandt, Alexander J., Brazill, Jennifer M., Carmichael, Lynn, Davids, Mariska, Davis, Joie, Diaz-Perez, Zoraida, Draper, David, Elson, Jeremy, Flynn, Elise D., Godfrey, Rena, Groden, Catherine, Hsieh, Cheng-Kang, Fischer, Roxanne, Golas, Gretchen A., Guzman, Jessica, Huang, Yan, Kane, Megan S., Lee, Elizabeth, Li, Chong, Links, Amanda E., Maduro, Valerie, Malicdan, May Christine V., Malik, Fayeza S., Nehrebecky, Michele, Park, Joun, Pemberton, Paul, Schaffer, Katherine, Simeonov, Dimitre, Sincan, Murat, Smedley, Damian, Valivullah, Zaheer, Wahl, Colleen, Washington, Nicole, Wolfe, Lynne A., Xu, Karen, Zhu, Yi, Gahl, William A., Tifft, Cynthia J., Toro, Camillo, Adams, David R., He, Miao, Robinson, Peter N., Haendel, Melissa A., Zhai, R. Grace, Boerkoel, Cornelius F.
Publicado 2017