The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience

Por Lawrence, Lauren, Sincan, Murat, Markello, Thomas, Adams, David R, Gill, Fred, Godfrey, Rena, Golas, Gretchen, Groden, Catherine, Landis, Dennis, Nehrebecky, Michele, Park, Grace, Soldatos, Ariane, Tifft, Cynthia, Toro, Camilo, Wahl, Colleen, Wolfe, Lynne, Gahl, William A., Boerkoel, Cornelius F.
Publicado em 2014

Defective ciliogenesis in INPP5E-related Joubert syndrome

Por Hardee, Isabel, Soldatos, Ariane, Davids, Mariska, Vilboux, Thierry, Toro, Camilo, David, Karen L., Ferreira, Carlos R., Nehrebecky, Michele, Snow, Joseph, Thurm, Audrey, Heller, Theo, Macnamara, Ellen F., Gunay-Aygun, Meral, Zein, Wadih M., Gahl, William, Malicdan, May Christine V.
Publicado no Am J Med Genet A (2017)

The NIH Undiagnosed Diseases Program: Insights into Rare Diseases

Por Gahl, William A., Markello, Thomas C., Toro, Camilo, Fajardo, Karin Fuentes, Sincan, Murat, Gill, Fred, Carlson-Donohoe, Hannah, Gropman, Andrea, Pierson, Tyler Mark, Golas, Gretchen, Wolfe, Lynne, Groden, Catherine, Godfrey, Rena, Nehrebecky, Michele, Wahl, Colleen, Landis, Dennis M. D., Yang, Sandra, Madeo, Anne, Mullikin, James C, Boerkoel, Cornelius F., Tifft, Cynthia J., Adams, David
Publicado em 2011

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 no Genet Med (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 no Front Med (Lausanne) (2017)