Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

por Zahir, Farah R., Mwenifumbo, Jill C., Chun, Hye-Jung E., Lim, Emilia L., Van Karnebeek, Clara D. M., Couse, Madeline, Mungall, Karen L., Lee, Leora, Makela, Nancy, Armstrong, Linlea, Boerkoel, Cornelius F., Langlois, Sylvie L., McGillivray, Barbara M., Jones, Steven J. M., Friedman, Jan M., Marra, Marco A.
Publicado 2017

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

por Elliott, Alison M., Adam, Shelin, du Souich, Christèle, Lehman, Anna, Nelson, Tanya N., van Karnebeek, Clara, Alderman, Emily, Armstrong, Linlea, Aubertin, Gudrun, Blood, Katherine, Boelman, Cyrus, Boerkoel, Cornelius, Bretherick, Karla, Brown, Lindsay, Chijiwa, Chieko, Clarke, Lorne, Couse, Madeline, Creighton, Susan, Watts-Dickens, Abby, Gibson, William T., Gill, Harinder, Tarailo-Graovac, Maja, Hamilton, Sara, Heran, Harindar, Horvath, Gabriella, Huang, Lijia, Hulait, Gurdip K., Koehn, David, Lee, Hyun Kyung, Lewis, Suzanne, Lopez, Elena, Louie, Kristal, Niederhoffer, Karen, Matthews, Allison, Meagher, Kirsten, Peng, Junran J., Patel, Millan S., Race, Simone, Richmond, Phillip, Rupps, Rosemarie, Salvarinova, Ramona, Seath, Kimberly, Selby, Kathryn, Steinraths, Michelle, Stockler, Sylvia, Tang, Kaoru, Tyson, Christine, van Allen, Margot, Wasserman, Wyeth, Mwenifumbo, Jill, Friedman, Jan M.
Publicado 2022