Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

por Morimoto, Marie, Bhambhani, Vikas, Gazzaz, Nour, Davids, Mariska, Sathiyaseelan, Paalini, Macnamara, Ellen F., Lange, Jennifer, Lehman, Anna, Zerfas, Patricia M., Murphy, Jennifer L., Acosta, Maria T., Wang, Camille, Alderman, Emily, Reichert, Sara, Thurm, Audrey, Adams, David R., Introne, Wendy J., Gorski, Sharon M., Boerkoel, Cornelius F., Gahl, William A., Tifft, Cynthia J., Malicdan, May Christine V.
Publicado 2023

The practice of genomic medicine: A delineation of the process and its governing principles

por Handra, Julia, Elbert, Adrienne, Gazzaz, Nour, Moller-Hansen, Ashley, Hyunh, Stephanie, Lee, Hyun Kyung, Boerkoel, Pierre, Alderman, Emily, Anderson, Erin, Clarke, Lorne, Hamilton, Sara, Hamman, Ronnalea, Hughes, Shevaun, Ip, Simon, Langlois, Sylvie, Lee, Mary, Li, Laura, Mackenzie, Frannie, Patel, Millan S., Prentice, Leah M., Sangha, Karan, Sato, Laura, Seath, Kimberly, Seppelt, Margaret, Swenerton, Anne, Warnock, Lynn, Zambonin, Jessica L., Boerkoel, Cornelius F., Chin, Hui-Lin, Armstrong, Linlea
Publicado 2023

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