Lynch syndrome-chasing a better ascertainment rate in British Columbia

por Cremin, Carol, Bashash, Morteza, Armstrong, Linlea, Gill, Sharlene, Huntsman, David, Bajdik, Chris
Publicado 2010

The Orthopaedic Management of Human Disorganization Syndrome

por Smit, Kevin, So, Judy, Schaeffer, Emily, Armstrong, Linlea, Verchere, Cindy, Mulpuri, Kishore
Publicado 2020

Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers

por Pataky, Reka, Armstrong, Linlea, Chia, Stephen, Coldman, Andrew J, Kim-Sing, Charmaine, McGillivray, Barbara, Scott, Jenna, Wilson, Christine M, Peacock, Stuart
Publicado 2013

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications

por Cook, Courtney B., Armstrong, Linlea, Boerkoel, Cornelius F., Clarke, Lorne A., du Souich, Christèle, Demos, Michelle K., Gibson, William T., Gill, Harinder, Lopez, Elena, Patel, Millan S., Selby, Kathryn, Abu-Sharar, Ziad, Elliott, Alison M., Friedman, Jan M.
Publicado 2021

Expanding the genotype-phenotype spectrum in SCN8A-related disorders

por Hebbar, Malavika, Al-Taweel, Nawaf, Gill, Inderpal, Boelman, Cyrus, Dean, Richard A, Goodchild, Samuel J, Mezeyova, Janette, Shuart, Noah Gregory, Johnson, J. P., Lee, James, Michoulas, Aspasia, Huh, Linda L, Armstrong, Linlea, Connolly, Mary B, Demos, Michelle K.
Publicado 2023

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

por Chan, Wai-Man, Andrews, Caroline, Dragan, Laryssa, Fredrick, Douglas, Armstrong, Linlea, Lyons, Christopher, Geraghty, Michael T, Hunter, David G, Yazdani, Ahmad, Traboulsi, Elias I, Pott, Jan WR, Gutowski, Nicholas J, Ellard, Sian, Young, Elizabeth, Hanisch, Frank, Koc, Feray, Schnall, Bruce, Engle, Elizabeth C
Publicado 2007

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

Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology

por Dixon, Katherine, Young, Sean, Shen, Yaoqing, Thibodeau, My Linh, Fok, Alexandra, Pleasance, Erin, Zhao, Eric, Jones, Martin, Aubert, Geraldine, Armstrong, Linlea, Virani, Alice, Regier, Dean, Gelmon, Karen, Renouf, Dan, Chia, Stephen, Bosdet, Ian, Rassekh, S Rod, Deyell, Rebecca J, Yip, Stephen, Fisic, Ana, Titmuss, Emma, Abadi, Shirin, Jones, Steven J M, Sun, Sophie, Karsan, Aly, Marra, Marco, Laskin, Janessa, Lim, Howard, Schrader, Kasmintan A
Publicado 2020

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

por Friedman, JM, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, MacLeod, Patrick, Mathers, Joan, Michaud, Jacques L, McGillivray, Barbara C, Patel, Millan S, Qian, Hong, Rouleau, Guy A, Van Allen, Margot I, Yong, Siu-Li, Zahir, Farah R, Eydoux, Patrice, Marra, Marco A
Publicado 2009

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

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

por Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.
Publicado 2012

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

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

por Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.
Publicado 2019